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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_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
MTOR	2475	broad.mit.edu	37	chr1	11169374	11169374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatctcgaaccctgttaaTaatctggatagctttcttat	10	17	5	9	1	3	0	0	0	3	0	4	2	3	1	1	1	2	2	1	1	6	6			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr1:11169374T>A	ENST00000361445.4	-	56	7577	c.7501A>T	c.(7501-7503)Att>Ttt	p.I2501F	MTOR_ENST00000376838.1_Missense_Mutation_p.I706F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2501	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACCCTGTTAATAATCTGGATA	0.413													9	57					0	0	1	0	0	A	11169374	T	A	11169374	3	1	1	1	0	0	0	0	1	0	0	0	10002	1406	49	5	160	5	MTOR	1	11169374	Missense_Mutation	SNP	T	TCGA-RZ-AB0B-01A-11D-A39W-08		11169374	238081247	1	1			1	1		2	2	39	N	T_A	2.08676e-05
MTOR	2475	broad.mit.edu	37	chr1	11169412	11169412	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttagggcctctggtttcAccaaaccgtctccaactgga	9	12	8	12	1	3	0	1	0	2	0	4	1	3	1	4	3	2	1	4	3	4	4			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr1:11169412A>C	ENST00000361445.4	-	56	7539	c.7463T>G	c.(7462-7464)gTg>gGg	p.V2488G	MTOR_ENST00000376838.1_Missense_Mutation_p.V693G	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2488	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTCTGGTTTCACCAAACCGTC	0.393													49	7					0	0	1	0	0	C	11169412	A	C	11169412	3	2	1	1	0	0	0	0	1	0	0	0	10002	159	6	5	198	5	MTOR	1	11169412	Missense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08	38	11169412	238081209	2	2			1	1		2	2	39	N	T_A	2.08676e-05
APLF	200558	broad.mit.edu	37	chr2	68753323	68753323	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagcagaacaagacacAggagaagagtgcaaaaatac	21	3	9	8	0	1	4	1	0	0	4	1	5	1	4	0	1	4	2	0	1	6	1			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr2:68753323A>T	ENST00000303795.4	+	6	924	c.753A>T	c.(751-753)acA>acT	p.T251T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	251					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AACAAGACACAGGAGAAGAGT	0.338													3	52					0	0	1	0	0	T	68753323	A	T	68753323	2	4	1	1	0	0	0	0	0	0	0	1	772	175	7	5		5	APLF	2	68753323	Silent	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		68753323	174446050	3	3											
MUC4	4585	broad.mit.edu	37	chr3	195515449	195515449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtggcgtgacctgtggatActgaggaagcatcggtgaca	9	8	17	7	2	0	3	0	3	0	0	1	5	0	5	1	5	2	1	1	5	2	1			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr3:195515449A>G	ENST00000463781.3	-	2	3461	c.3002T>C	c.(3001-3003)gTa>gCa	p.V1001A	MUC4_ENST00000475231.1_Missense_Mutation_p.V1001A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587													4	0					0	0	1	0	0	G	195515449	A	G	195515449	3	3	1	1	0	0	0	0	1	0	0	0	10026	391	14	4		4	MUC4	3	195515449	Missense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		195515449	2506981	4	4											
ARSJ	79642	broad.mit.edu	37	chr4	114823726	114823726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggtccaccctctcatatgGgtcggctgtgatgttgaaaa	9	12	11	9	1	1	2	1	2	1	0	4	2	2	2	2	3	0	2	2	3	4	3			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr4:114823726G>T	ENST00000315366.7	-	2	2370	c.1504C>A	c.(1504-1506)Cca>Aca	p.P502T	ARSJ_ENST00000541197.1_Missense_Mutation_p.P502T	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	502						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTCTCATATGGGTCGGCTGTG	0.512													20	25					1.96292e-10	2.11392e-10	1	1	0	T	114823726	G	T	114823726	3	4	1	1	0	0	0	0	1	0	0	0	994	1232	43	5	299	5	ARSJ	4	114823726	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		114823726	76330550	5	5											
DNAH8	1769	broad.mit.edu	37	chr6	38828378	38828378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgggatgtactgatcGtcttgttatcactccattaa	9	17	7	8	1	3	1	1	1	2	0	5	2	4	2	1	1	1	2	1	1	3	5			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr6:38828378G>A	ENST00000359357.3	+	41	5707	c.5453G>A	c.(5452-5454)cGt>cAt	p.R1818H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2035H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1818H					dynein, axonemal, heavy chain 8											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						TGTACTGATCGTCTTGTTATC	0.289													7	65					0	0	1	0	0	A	38828378	G	A	38828378	3	1	1	1	0	0	0	0	1	0	0	0	4634	1145	40	1	5607	1	DNAH8	6	38828378	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		38828378	132286689	6	6											
TSC22D4	81628	broad.mit.edu	37	chr7	100074941	100074941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaactccatccgcagccGcatgtctacagctttcctcc	8	9	5	19	2	1	0	0	0	1	0	5	0	5	0	6	0	4	3	6	0	2	2			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr7:100074941G>A	ENST00000300181.2	-	2	1475	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	TSC22D4_ENST00000393991.1_Missense_Mutation_p.R2W|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	241					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCGCAGCCGCATGTCTACA	0.652													4	49					0	0	1	0	0	A	100074941	G	A	100074941	3	1	1	1	0	0	0	0	1	0	0	0	16671	1086	38	1	482	1	TSC22D4	7	100074941	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		100074941	59063722	7	7											
LSM1	27257	broad.mit.edu	37	chr8	38021245	38021245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctcggtccttcagggcCtgcactttcaacttctctgc	6	12	8	15	1	3	1	2	0	1	1	6	1	4	1	3	2	3	1	3	2	1	3			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr8:38021245C>G	ENST00000311351.4	-	4	740	c.345G>C	c.(343-345)caG>caC	p.Q115H	RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	115					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					CCTTCAGGGCCTGCACTTTCA	0.488													21	26					0	0	1	0	0	G	38021245	C	G	38021245	3	3	1	1	0	0	0	0	1	0	0	0	9095	680	24	5	60	5	LSM1	8	38021245	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		38021245	108342777	8	8											
COL14A1	7373	broad.mit.edu	37	chr8	121224799	121224799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggccagtgatcctgttaCgggacaagaaacaacatgtg	14	7	12	8	1	0	3	0	1	0	2	1	4	1	4	2	2	3	1	2	2	4	1			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr8:121224799C>T	ENST00000297848.3	+	13	1850	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T527M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T432M|COL14A1_ENST00000537875.1_Missense_Mutation_p.T527M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	527	Fibronectin type-III 3.				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)			GATCCTGTTACGGGACAAGAA	0.443													96	20					0	0	1	0	0	T	121224799	C	T	121224799	3	4	1	1	0	0	0	0	1	0	0	0	3694	536	19	1	1626	1	COL14A1	8	121224799	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08	83203554	121224799	25139223	9	9											
POU4F1	5457	broad.mit.edu	37	chr13	79175838	79175838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggatgggcttgagCgcgatcatgttgttgtgcga	6	11	16	8	3	1	1	1	1	0	0	1	4	1	2	1	2	3	4	1	2	0	3			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr13:79175838C>T	ENST00000377208.5	-	2	1183	c.972G>A	c.(970-972)gcG>gcA	p.A324A	RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	324	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TGGGCTTGAGCGCGATCATGT	0.637													3	22					0	0	1	0	0	T	79175838	C	T	79175838	2	4	1	1	0	0	0	0	0	0	0	1	12324	755	27	1		1	POU4F1	13	79175838	Silent	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		79175838	35994040	10	10											
C15orf60	283677	broad.mit.edu	37	chr15	73852150	73852150	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatctgcatggggtgcaGaagagttaggccccttccta	11	9	11	10	0	1	2	0	0	1	2	2	2	2	2	3	3	3	3	3	3	5	3			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr15:73852150G>T	ENST00000331090.6	+	6	722	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	C15orf60_ENST00000560581.1_Nonsense_Mutation_p.E204*	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	232										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						ATGGGGTGCAGAAGAGTTAGG	0.478													6	65					0.00198382	0.00198382	1	1	0	T	73852150	G	T	73852150	4	4	1	1	0	0	0	0	0	1	0	0	1814	943	33	5	716	5	C15orf60	15	73852150	Nonsense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		73852150	28679242	11	11											
PPP4R1	9989	broad.mit.edu	37	chr18	9550172	9550172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgcgtgcagcttcttcaCcatctcgctgacctgggagg	5	10	12	14	3	3	1	1	1	2	0	4	2	3	2	3	2	3	3	3	2	0	2			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr18:9550172C>A	ENST00000400556.3	-	18	2498	c.2425G>T	c.(2425-2427)Gtg>Ttg	p.V809L	PPP4R1_ENST00000400555.3_Missense_Mutation_p.V792L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	809					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AGCTTCTTCACCATCTCGCTG	0.483													18	31					2.70639e-06	2.80663e-06	1	1	0	A	9550172	C	A	9550172	3	1	1	1	0	0	0	0	1	0	0	0	12452	507	18	5	439	5	PPP4R1	18	9550172	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		9550172	68527076	12	12											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								26	42					0	0	1	0	0	T	3118942	A	T	3118942	3	4	1	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		3118942	56010041	13	13											
SHANK1	50944	broad.mit.edu	37	chr19	51220008	51220008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacattgagcggccctggaGgcctctaacagaggccaggc	9	5	15	12	1	1	2	0	1	1	1	1	4	1	4	3	6	2	0	3	6	1	2			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:51220008G>A	ENST00000293441.1	-	1	187	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	SHANK1_ENST00000359082.3_Missense_Mutation_p.L57F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L57F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	57					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)		CGGCCCTGGAGGCCTCTAACA	0.672													3	31					0	0	1	0	0	A	51220008	G	A	51220008	3	1	1	1	0	0	0	0	1	0	0	0	14319	1000	35	3	6408	3	SHANK1	19	51220008	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	48101066	51220008	7908975	14	14											
LILRA2	0	broad.mit.edu	37	chr19	55086935	55086935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgagcccctcccacGggggccagtacagatgctac	7	6	12	16	1	0	2	0	1	0	1	1	2	1	2	5	2	4	2	5	2	2	2			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:55086935G>A	ENST00000251377.3	+	6	1001	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290R|LILRA2_ENST00000251376.3_Missense_Mutation_p.G290R|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.G290W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCTCCCACGGGGGCCAGTA	0.657													30	34					0	0	1	0	0	A	55086935	G	A	55086935	3	1	1	1	0	0	0	0	1	0	0	0	8825	1116	39	1	886	1	LILRA2	19	55086935	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	3866927	55086935	4042048	15	15											
EDEM2	55741	broad.mit.edu	37	chr20	33722607	33722607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacatcttcgaacacCgggtcaccagtgaggctgct	8	8	11	14	2	2	1	1	1	1	0	3	2	2	1	3	3	2	2	3	3	1	1			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr20:33722607C>T	ENST00000540582.1	-	10	1234	c.513G>A	c.(511-513)ccG>ccA	p.P171P	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Silent_p.P212P|EDEM2_ENST00000374491.3_Silent_p.P175P|EDEM2_ENST00000541621.1_5'UTR			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	212					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTCGAACACCGGGTCACCAG	0.582													3	50					0	0	1	0	0	T	33722607	C	T	33722607	2	4	1	1	0	0	0	0	0	0	0	1	4938	639	23	1		1	EDEM2	20	33722607	Silent	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		33722607	29302913	16	16											
GMEB2	26205	broad.mit.edu	37	chr20	62236098	62236098	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaggacggcttcctacctAacacggcttccttgagctgg	7	10	10	14	2	0	1	0	1	0	0	2	2	2	2	4	4	3	3	4	4	3	6			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr20:62236098A>T	ENST00000266068.1	-	2	705	c.227T>A	c.(226-228)tTa>tAa	p.L76*	GMEB2_ENST00000370077.1_Nonsense_Mutation_p.L76*|GMEB2_ENST00000370069.1_Nonsense_Mutation_p.L25*			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	76					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CTTCCTACCTAACACGGCTTC	0.572													9	50					0	0	1	0	0	T	62236098	A	T	62236098	4	4	1	1	0	0	0	0	0	1	0	0	6530	372	13	5	1397	5	GMEB2	20	62236098	Nonsense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08	28513491	62236098	789422	17	17											
PRAMEF6	440561	broad.mit.edu	37	chr1	13108945	13108945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgccttaagtccctcaCtctcttcatcagctcagccc	6	11	8	16	0	5	0	4	0	1	0	7	0	6	0	3	2	3	1	3	2	1	2			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr1:13108945C>A	ENST00000376182.1	-	4	1423	c.1324G>T	c.(1324-1326)Gtg>Ttg	p.V442L	PRAMEF6_ENST00000414205.2_Missense_Mutation_p.V442L|PRAMEF6_ENST00000376192.5_Intron	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	442										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCCTCACTCTCTTCATC	0.517													10	92					1.49906e-05	1.69893e-05	1	1	0	A	13108945	C	A	13108945	3	1	2	1	0	0	0	0	1	0	0	0	12489	565	20	5		5	PRAMEF6	1	13108945	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		13108945	236141676	1	18											
DFNA5	1687	broad.mit.edu	37	chr7	24758768	24758768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgtcgtgatcttctgtgtCaaaacgcacaggacctcatt	10	12	8	11	3	4	1	2	1	2	0	6	2	4	2	1	1	1	1	1	1	2	2			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr7:24758768C>G	ENST00000342947.3	-	4	899	c.474G>C	c.(472-474)ttG>ttC	p.L158F	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.L158F|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	158					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCTTCTGTGTCAAAACGCACA	0.502													28	39					0	0	1	0	0	G	24758768	C	G	24758768	3	3	2	1	0	0	0	0	1	0	0	0	4482	825	29	5	1044	5	DFNA5	7	24758768	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		24758768	134379895	2	19											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166799	96166799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcgtcgccaccattgccGcaaatgtggttttgttgtct	7	15	9	10	3	1	0	0	0	1	0	3	0	1	0	3	1	1	3	3	1	2	5			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr8:96166799G>A	ENST00000315367.3	+	2	768	c.527G>A	c.(526-528)cGc>cAc	p.R176H	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.R176H	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	176						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CACCATTGCCGCAAATGTGGT	0.478													5	187					0	0	1	0	0	A	96166799	G	A	96166799	3	1	2	1	0	0	0	0	1	0	0	0	12115	1087	38	1	529	1	PLEKHF2	8	96166799	Missense_Mutation	SNP	G	TCGA-V3-A9ZX-01A-11D-A39W-08		96166799	50197223	3	20											
P2RX3	5024	broad.mit.edu	37	chr11	57118298	57118298	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggcctgggaccagtgCatccccaaatactccttcac	11	7	8	15	0	1	0	1	0	0	0	3	2	3	1	5	2	2	1	5	2	3	2			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr11:57118298C>A	ENST00000263314.2	+	8	802	c.768C>A	c.(766-768)tgC>tgA	p.C256*		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	256					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGGACCAGTGCATCCCCAAAT	0.582													3	26					0.115264	0.122468	1	1	0	A	57118298	C	A	57118298	4	1	2	1	0	0	0	0	0	1	0	0	11388	718	25	5	798	5	P2RX3	11	57118298	Nonsense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		57118298	77888218	4	21											
CNTN5	53942	broad.mit.edu	37	chr11	100179204	100179204	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacagggatttgaggtaTgaacagaatgattgaaaata	17	9	11	4	0	0	5	0	4	0	1	0	7	0	6	1	2	1	1	1	2	6	4			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr11:100179204T>C	ENST00000527185.1	+	21	3073	c.2734T>C	c.(2734-2736)Tga>Cga	p.*912R	CNTN5_ENST00000528682.1_Intron|CNTN5_ENST00000524871.1_Intron|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000279463.3_Intron|CNTN5_ENST00000418526.2_Intron	NM_001243271.1	NP_001230200.1	O94779	CNTN5_HUMAN	contactin 5	0	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTTGAGGTATGAACAGAATG	0.393													10	19					0	0	1	0	0	C	100179204	T	C	100179204	4	2	2	1	0	0	0	0	0	0	0	0	3667	1479	51	4		4	CNTN5	11	100179204	Nonstop_Mutation	SNP	T	TCGA-V3-A9ZX-01A-11D-A39W-08	43060906	100179204	34827312	5	22											
TENC1	23371	broad.mit.edu	37	chr12	53449609	53449609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtttctgcctacatgcaCtacagcaagatctctgcagg	10	11	8	12	1	2	1	0	0	2	1	4	1	2	1	1	1	6	4	1	1	3	3			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr12:53449609C>T	ENST00000314250.6	+	10	1031	c.741C>T	c.(739-741)caC>caT	p.H247H	TENC1_ENST00000549700.1_Silent_p.H247H|TENC1_ENST00000314276.3_Silent_p.H257H|TENC1_ENST00000552570.1_Silent_p.H247H|TENC1_ENST00000379902.3_Silent_p.H123H|TENC1_ENST00000451358.1_Silent_p.H247H|TENC1_ENST00000546602.1_Silent_p.H247H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	247	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCTACATGCACTACAGCAAGA	0.597													42	74					0	0	1	0	0	T	53449609	C	T	53449609	2	4	2	1	0	0	0	0	0	0	0	1	15817	564	20	3		3	TENC1	12	53449609	Silent	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		53449609	80402286	6	23											
GGA2	23062	broad.mit.edu	37	chr16	23481415	23481415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgggtgcccaggggCtcccgtctgggagaagtgga	6	8	16	11	1	2	1	0	0	2	1	3	3	3	2	3	5	2	1	3	5	2	1			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr16:23481415C>T	ENST00000309859.4	-	15	1604	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	508	GAE.				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)		TGCCCAGGGGCTCCCGTCTGG	0.552													15	38					0	0	1	0	0	T	23481415	C	T	23481415	3	4	2	1	0	0	0	0	1	0	0	0	6395	797	28	2	331	2	GGA2	16	23481415	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		23481415	66873338	7	24											
WDR16	146845	broad.mit.edu	37	chr17	9490111	9490111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggccttttctccaaatGatttgtacttggtatcacta	8	17	6	10	0	3	1	1	1	2	0	4	1	3	1	2	2	1	2	2	2	4	7			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr17:9490111G>C	ENST00000352665.5	+	3	436	c.367G>C	c.(367-369)Gat>Cat	p.D123H	WDR16_ENST00000576499.1_Missense_Mutation_p.M121I|WDR16_ENST00000299764.5_Missense_Mutation_p.D133H|WDR16_ENST00000396219.3_Missense_Mutation_p.D55H	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	123						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTCCAAATGATTTGTACTT	0.388													39	45					0	0	1	0	0	C	9490111	G	C	9490111	3	2	2	1	0	0	0	0	1	0	0	0	17336	1290	45	5	377	5	WDR16	17	9490111	Missense_Mutation	SNP	G	TCGA-V3-A9ZX-01A-11D-A39W-08		9490111	71705099	8	25											
C17orf80	55028	broad.mit.edu	37	chr17	71239111	71239111	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcttcacaggatacttcgtCctgtgttgtagctggagttt	6	16	10	9	1	2	0	1	0	1	0	4	2	3	2	1	2	2	4	1	2	2	6			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr17:71239111C>G	ENST00000359042.2	+	5	1892	c.1698C>G	c.(1696-1698)gtC>gtG	p.V566V	C17orf80_ENST00000255557.4_Silent_p.V530V|C17orf80_ENST00000577615.1_Silent_p.V530V|C17orf80_ENST00000535032.2_Silent_p.V566V|C17orf80_ENST00000582793.1_Silent_p.V35V|C17orf80_ENST00000268942.8_Silent_p.V530V|C17orf80_ENST00000426147.2_Silent_p.V566V	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	566						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GATACTTCGTCCTGTGTTGTA	0.468													12	13					0	0	1	0	0	G	71239111	C	G	71239111	2	3	2	1	0	0	0	0	0	0	0	1	1895	842	30	5		5	C17orf80	17	71239111	Silent	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08	61749000	71239111	9956099	9	26											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								20	29					0	0	1	0	0	T	3118942	A	T	3118942	3	4	2	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V3-A9ZX-01A-11D-A39W-08		3118942	56010041	10	27											
SULT6B1	391365	broad.mit.edu	37	chr2	37398631	37398631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcctgagacttcgcacGcatggcttggaaggtgctct	6	12	13	10	2	1	1	0	1	1	1	3	3	2	2	1	3	1	4	1	3	1	2			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:37398631G>A	ENST00000535679.1	-	6	726	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	243						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GACTTCGCACGCATGGCTTGG	0.483													4	108					0	0	1	0	0	A	37398631	G	A	37398631	3	1	3	1	0	0	0	0	1	0	0	0	15440	1087	38	1	192	1	SULT6B1	2	37398631	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		37398631	205800742	1	28											
HDLBP	3069	broad.mit.edu	37	chr2	242169044	242169044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggccccaagggagggtcTtgggagccacctgagcccca	7	5	16	13	0	1	1	0	1	1	0	1	3	1	3	6	5	2	0	6	5	1	1			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:242169044T>C	ENST00000391975.1	-	28	4006	c.3779A>G	c.(3778-3780)aAg>aGg	p.K1260R	HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1260					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA 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)		AGGGAGGGTCTTGGGAGCCAC	0.557													4	45					0	0	1	0	0	C	242169044	T	C	242169044	3	2	3	1	0	0	0	0	1	0	0	0	7066	1609	56	4	31	4	HDLBP	2	242169044	Missense_Mutation	SNP	T	TCGA-V3-A9ZY-01A-11D-A39W-08	204770413	242169044	1030329	2	29											
FAT1	2195	broad.mit.edu	37	chr4	187542653	187542653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttatttcatacaccactGatgattgactatgggctgta	10	16	7	8	0	1	3	1	3	0	0	1	3	1	3	1	1	1	2	1	1	4	7			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr4:187542653G>A	ENST00000441802.2	-	10	5296	c.5087C>T	c.(5086-5088)tCa>tTa	p.S1696L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1696	Cadherin 15.				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						ATACACCACTGATGATTGACT	0.388										HNSCC(5;0.00058)			3	53					0	0	1	0	0	A	187542653	G	A	187542653	3	1	3	1	0	0	0	0	1	0	0	0	5722	1294	45	3	8751	3	FAT1	4	187542653	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		187542653	3611623	3	30											
PCDHGA2	0	broad.mit.edu	37	chr5	140719342	140719342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggtgaccgccactgaCgcagatgagggctactacgc	9	6	12	14	4	1	4	1	3	0	1	1	4	1	4	2	2	2	2	2	2	2	2			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:140719342C>A	ENST00000394576.2	+	1	804	c.804C>A	c.(802-804)gaC>gaA	p.D268E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.D268D(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCACTGACGCAGATGAGG	0.507													45	47					1.41504e-22	1.47935e-22	1	1	0	A	140719342	C	A	140719342	3	1	3	1	0	0	0	0	1	0	0	0	11601	535	19	5	806	5	PCDHGA2	5	140719342	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		140719342	40195918	4	31											
GRIA1	0	broad.mit.edu	37	chr5	153174266	153174266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggtggtacgacaagggcGagtgcggcagcgggggaggt	9	5	21	6	4	0	0	0	0	0	0	0	3	0	1	0	7	3	2	0	7	3	1			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:153174266G>A	ENST00000285900.5	+	14	2699	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	786					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	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			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)	CGACAAGGGCGAGTGCGGCAG	0.448													11	18					0	0	1	0	0	A	153174266	G	A	153174266	3	1	3	1	0	0	0	0	1	0	0	0	6808	1059	37	1	2410	1	GRIA1	5	153174266	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08	12454924	153174266	27740994	5	32											
PRSS16	10279	broad.mit.edu	37	chr6	27222478	27222478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctccctacacagatgtcaCctgtgagaatcccagatgtc	11	10	7	13	0	2	3	1	1	1	3	5	4	3	3	3	0	1	0	3	0	2	1			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr6:27222478C>G	ENST00000230582.3	+	10	1172	c.1157C>G	c.(1156-1158)aCc>aGc	p.T386S	PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	386					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACAGATGTCACCTGTGAGAAT	0.512													29	74					0	0	1	0	0	G	27222478	C	G	27222478	3	3	3	1	0	0	0	0	1	0	0	0	12666	507	18	5	1195	5	PRSS16	6	27222478	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		27222478	143892589	6	33											
COBL	23242	broad.mit.edu	37	chr7	51095952	51095952	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccccctaggaggggcTcccactgccaaatcttcccc	7	7	7	20	0	1	0	0	0	1	0	4	1	4	1	8	3	1	1	8	3	2	2			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr7:51095952T>C	ENST00000395542.2	-	12	3271	c.3087A>G	c.(3085-3087)ggA>ggG	p.G1029G	COBL_ENST00000265136.7_Silent_p.G947G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	947										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)					TAGGAGGGGCTCCCACTGCCA	0.572													14	13					0	0	1	0	0	C	51095952	T	C	51095952	2	2	3	1	0	0	0	0	0	0	0	1	3676	1538	54	4		4	COBL	7	51095952	Silent	SNP	T	TCGA-V3-A9ZY-01A-11D-A39W-08		51095952	108042711	7	34											
PRUNE2	158471	broad.mit.edu	37	chr9	79322557	79322557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaactcaggacttgatgCacttgaatgagtatactcac	13	13	7	8	0	2	3	2	3	0	0	2	4	2	4	0	1	3	2	0	1	4	6			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr9:79322557C>A	ENST00000428286.1	-	8	4756	c.3556G>T	c.(3556-3558)Gca>Tca	p.A1186S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1545S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1545					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGACTTGATGCACTTGAATGA	0.448													3	21					0.115264	0.115264	1	1	0	A	79322557	C	A	79322557	3	1	3	1	0	0	0	0	1	0	0	0	12690	710	25	5	4681	5	PRUNE2	9	79322557	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		79322557	61890874	8	35											
TCTN3	26123	broad.mit.edu	37	chr10	97443174	97443174	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatataagtacctcattataAtgaacaaaaaattcctcacc	18	12	2	9	0	2	1	2	1	0	0	3	1	3	1	3	0	2	1	3	0	10	7			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr10:97443174A>G	ENST00000371209.5	-	10	1307	c.1308T>C	c.(1306-1308)caT>caC	p.H436H	TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000371217.5_Intron|TCTN3_ENST00000430368.2_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3	0					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CCTCATTATAATGAACAAAAA	0.353													2	4					0	0	1	0	0	G	97443174	A	G	97443174	2	3	3	1	0	0	0	0	0	0	0	1	15783	116	4	4		4	TCTN3	10	97443174	Silent	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		97443174	38091573	9	36											
PTPRB	0	broad.mit.edu	37	chr12	71016404	71016404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttctagtgctcctcacCgaaacttctgctcccaggcc	6	12	8	15	1	3	0	1	0	2	0	5	1	5	0	4	1	3	3	4	1	2	3			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr12:71016404C>T	ENST00000334414.6	-	3	518	c.474G>A	c.(472-474)tcG>tcA	p.S158S	PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000550358.1_Silent_p.S158S|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)			TGCTCCTCACCGAAACTTCTG	0.418													5	4					0	0	1	0	0	T	71016404	C	T	71016404	2	4	3	1	0	0	0	0	0	0	0	1	12848	639	23	1		1	PTPRB	12	71016404	Silent	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		71016404	62835491	10	37											
PDS5B	23047	broad.mit.edu	37	chr13	33226028	33226028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctttacatcttgcttcaGatttttttctcaagcatcct	8	19	4	10	0	3	1	2	0	2	1	5	1	4	1	1	0	4	3	1	0	3	8			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr13:33226028G>C	ENST00000315596.10	+	3	382	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					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)		TCTTGCTTCAGATTTTTTTCT	0.373													52	85					0	0	1	0	0	C	33226028	G	C	33226028	3	2	3	1	0	0	0	0	1	0	0	0	11739	942	33	5	202	5	PDS5B	13	33226028	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		33226028	81943850	11	38											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	10	9	13	1	4	0	2	0	2	0	5	0	4	0	2	2	4	2	2	2	2	2			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				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)	CAAATCTTTGCGGGCCATCAG	0.517													5	208					0	0	1	0	0	T	3293588	C	T	3293588	2	4	3	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		3293588	87061165	12	39											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								23	31					0	0	1	0	0	T	3118942	A	T	3118942	3	4	3	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		3118942	56010041	13	40											
ZNF229	7772	broad.mit.edu	37	chr19	44933957	44933957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggttacgtatgtgcgtGttctgtctgacgccccgacc	4	12	14	11	4	2	1	0	1	2	0	2	2	2	1	3	2	2	3	3	2	2	3			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:44933957G>A	ENST00000291187.4	-	6	1303	c.981C>T	c.(979-981)aaC>aaT	p.N327N	ZNF229_ENST00000588931.1_Silent_p.N333N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTATGTGCGTGTTCTGTCTGA	0.502													23	19					0	0	1	0	0	A	44933957	G	A	44933957	2	1	3	1	0	0	0	0	0	0	0	1	17840	1368	48	3		3	ZNF229	19	44933957	Silent	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08	41815015	44933957	14195026	14	41											
LRRC4B	94030	broad.mit.edu	37	chr19	51021330	51021330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgccttctccgtgggcCgcgaggagcgcggggcgggt	4	6	19	12	7	1	1	0	1	1	0	2	3	1	2	3	5	2	0	3	5	1	1			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:51021330C>T	ENST00000599957.1	-	3	1837	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	547						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)		CTCCGTGGGCCGCGAGGAGCG	0.687													9	17					0	0	1	0	0	T	51021330	C	T	51021330	3	4	3	1	0	0	0	0	1	0	0	0	9052	652	23	1	505	1	LRRC4B	19	51021330	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08	6087373	51021330	8107653	15	42											
KIR3DL2	3812	broad.mit.edu	37	chr19	55363677	55363677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacagatgtcggggttcaCgcccacactccctcactggg	7	8	10	16	2	2	1	2	0	0	1	4	1	3	1	3	3	1	1	3	3	1	2			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:55363677C>T	ENST00000326321.3	+	3	328	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	99	Ig-like C2-type 1.				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)		TCGGGGTTCACGCCCACACTC	0.592													28	35					0	0	1	0	0	T	55363677	C	T	55363677	3	4	3	1	0	0	0	0	1	0	0	0	8364	536	19	1	305	1	KIR3DL2	19	55363677	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08	4342347	55363677	3765306	16	43											
NLRP11	204801	broad.mit.edu	37	chr19	56307611	56307611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcgcaaatcacatttcAtcaagctgtaagaggaattc	13	11	8	9	1	3	1	3	0	0	1	5	2	3	2	0	2	1	4	0	2	4	3			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:56307611A>G	ENST00000443188.1	-	8	2887	c.2177T>C	c.(2176-2178)aTg>aCg	p.M726T	NLRP11_ENST00000589093.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T|NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	726							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)		ATCACATTTCATCAAGCTGTA	0.428													33	35					0	0	1	0	0	G	56307611	A	G	56307611	3	3	3	1	0	0	0	0	1	0	0	0	10520	217	8	4	944	4	NLRP11	19	56307611	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08	943934	56307611	2821372	17	44											
NFATC2	4773	broad.mit.edu	37	chr20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggacatcatcggggtatgCgggtccggagggtgggctgg	6	7	20	8	3	1	0	1	0	0	0	3	2	2	2	1	8	1	2	1	8	1	1			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr20:50140605C>T	ENST00000371564.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					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.A59T(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)					TCGGGGTATGCGGGTCCGGAG	0.592													3	46					0	0	1	0	0	T	50140605	C	T	50140605	3	4	3	1	0	0	0	0	1	0	0	0	10409	768	27	1	2686	1	NFATC2	20	50140605	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		50140605	12884915	18	45											
BAGE2	85319	broad.mit.edu	37	chr21	11085920	11085922	+	RNA	DEL	ACC	ACC	-																															ccatcaccaccatcaccactAccaccaccaccaccaccatc																								rs36147384		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr21:11085920_11085922delACC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		catcaccactaccaccaccacca	0.547													2	4	---	---	---	---						-	11085922	ACC	-	11085920	6	5	3	0	1	1	0	1	0	0	0	0	1290	406	14	0		0	BAGE2	21	11085920	RNA	DEL	ACC	TCGA-V3-A9ZY-01A-11D-A39W-08		11085920	37043975	19	46											
CHCHD10	400916	broad.mit.edu	37	chr22	24108202	24108202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgacctcttcagggcaGggagctcagacctgggaagg	9	5	15	12	1	3	1	2	0	1	1	3	4	3	3	3	4	1	3	3	4	1	1			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr22:24108202G>A	ENST00000484558.2	-	4	989	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	141						mitochondrion				large_intestine(2)|lung(1)	3						CTTCAGGGCAGGGAGCTCAGA	0.657													3	27					0	0	1	0	0	A	24108202	G	A	24108202	2	1	3	1	0	0	0	0	0	0	0	1	3337	991	35	3		3	CHCHD10	22	24108202	Silent	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		24108202	27196364	20	47											
EIF1AX	1964	broad.mit.edu	37	chrX	20152122	20152122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccgaggtatttatccAaacctacaaaagaaaagtca	18	9	6	8	1	1	1	1	0	0	1	3	2	3	1	3	1	2	1	3	1	9	4			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chrX:20152122A>T	ENST00000379607.5	-	4	411	c.208T>A	c.(208-210)Tgg>Agg	p.W70R	EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	70	S1-like.					cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GTATTTATCCAAACCTACAAA	0.323													41	4					0	0	1	0	0	T	20152122	A	T	20152122	3	4	3	1	0	0	0	0	1	0	0	0	5018	130	5	5	242	5	EIF1AX	23	20152122	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		20152122	135118438	21	48											
FCGR2A	2212	broad.mit.edu	37	chr1	161487879	161487879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagggcacctactgacGatgataaaaacatctacctg	14	7	7	13	1	1	2	0	2	1	0	1	3	1	2	4	1	3	1	4	1	5	3			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr1:161487879G>T	ENST00000271450.6	+	7	933	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298Y|FCGR2A_ENST00000486608.1_3'UTR|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	299						integral to membrane|plasma membrane	IgG binding|receptor activity	p.D298N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	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)	ACCTACTGACGATGATAAAAA	0.443													16	30					5.61819e-17	5.61819e-17	1	1	0	T	161487879	G	T	161487879	3	4	4	1	0	0	0	0	1	0	0	0	5814	1058	37	5	921	5	FCGR2A	1	161487879	Missense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08		161487879	87762742	1	49											
SF3B1	23451	broad.mit.edu	37	chr2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctatctgttgtacaatcTtaataccagtgtgtctcgct	9	16	7	9	1	3	0	0	0	3	0	4	0	3	0	1	0	3	4	1	0	6	6			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K666R(7)|p.K666T(6)|p.K666M(6)		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)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome								28	28					0	0	1	0	0	G	198267360	T	G	198267360	3	3	4	1	0	0	0	0	1	0	0	0	14203	1609	56	5	1965	5	SF3B1	2	198267360	Missense_Mutation	SNP	T	TCGA-V4-A9E5-01A-11D-A39W-08		198267360	44932013	2	50											
LRRC66	339977	broad.mit.edu	37	chr4	52861873	52861873	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttggcgcagatgggtctCtgggtgtggtgtgtgccccg	3	12	17	9	2	1	1	0	0	1	1	2	1	1	1	2	4	2	1	2	4	1	2			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr4:52861873C>G	ENST00000343457.3	-	4	1321	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	439						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGATGGGTCTCTGGGTGTGGT	0.547													42	97					0	0	1	0	0	G	52861873	C	G	52861873	3	3	4	1	0	0	0	0	1	0	0	0	9063	922	32	5	1331	5	LRRC66	4	52861873	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		52861873	138292403	3	51											
FAT4	79633	broad.mit.edu	37	chr4	126373735	126373735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtctgccaggatatgCgggtagctggtgtgaaatag	10	10	15	6	1	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	5	3			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr4:126373735C>T	ENST00000394329.3	+	9	11577	c.11564C>T	c.(11563-11565)gCg>gTg	p.A3855V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3855	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A3855V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGATATGCGGGTAGCTGG	0.473													11	34					0	0	1	0	0	T	126373735	C	T	126373735	3	4	4	1	0	0	0	0	1	0	0	0	5725	768	27	1	11598	1	FAT4	4	126373735	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08	73511862	126373735	64780541	4	52											
SNX18	112574	broad.mit.edu	37	chr5	53839202	53839202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttacaacaacaaataatAtttttccaaaaagttaccca	18	13	1	9	0	1	0	0	0	1	0	2	0	2	0	2	0	4	1	2	0	9	7			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr5:53839202A>G	ENST00000381410.4	+	2	2005	c.1815A>G	c.(1813-1815)atA>atG	p.I605M	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	458	BAR.				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)				AACAAATAATATTTTTCCAAA	0.348													9	37					0	0	1	0	0	G	53839202	A	G	53839202	3	3	4	1	0	0	0	0	1	0	0	0	14943	439	16	4	2087	4	SNX18	5	53839202	Missense_Mutation	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		53839202	127076058	5	53											
TFAP2B	7021	broad.mit.edu	37	chr6	50805696	50805696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaatttcagagccaaatCgaaaaatggggggagatctt	14	10	11	6	1	2	2	1	0	1	2	3	4	2	2	1	3	2	1	1	3	4	3			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:50805696C>T	ENST00000263046.4	+	6	1023	c.857C>T	c.(856-858)tCg>tTg	p.S286L	TFAP2B_ENST00000393655.3_Missense_Mutation_p.S277L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	277					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)					AGAGCCAAATCGAAAAATGGG	0.428													11	107					0	0	1	0	0	T	50805696	C	T	50805696	3	4	4	1	0	0	0	0	1	0	0	0	15848	893	31	1	848	1	TFAP2B	6	50805696	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		50805696	120309371	6	54											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)tctfs	p.S297fs	TRDN_ENST00000398178.3_Intron|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	5	---	---	---	---						A	123786033	-	A	123786032	7	5	4	1	0	1	1	0	0	0	0	0	16529	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-V4-A9E5-01A-11D-A39W-08	72980336	123786032	47329035	7	55											
DLL1	28514	broad.mit.edu	37	chr6	170594480	170594480	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggtggctccattcttGcagggcttatggtgtgtgca	5	13	15	8	0	1	0	0	0	1	0	2	0	2	0	1	4	3	5	1	4	1	3			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:170594480G>T	ENST00000366756.3	-	7	1227	c.894C>A	c.(892-894)tgC>tgA	p.C298*		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	298	EGF-like 3.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch 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)		CTCCATTCTTGCAGGGCTTAT	0.547													29	14					1.88708e-17	1.97286e-17	1	1	0	T	170594480	G	T	170594480	4	4	4	1	0	0	0	0	0	1	0	0	4594	1311	46	5	1297	5	DLL1	6	170594480	Nonsense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	46808448	170594480	520587	8	56											
ZAN	7455	broad.mit.edu	37	chr7	100345181	100345181	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcactgcagggagtatcCggaaacacactctcttctca	10	11	7	13	1	3	0	2	0	2	0	6	2	4	2	1	2	2	2	1	2	2	3			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr7:100345181C>T	ENST00000542585.1	+	0	1088				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			AGGGAGTATCCGGAAACACAC	0.517													15	24					0	0	1	0	0	T	100345181	C	T	100345181	1	4	4	0	1	0	0	0	0	0	0	0	17573	643	23	1		1	ZAN	7	100345181	RNA	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		100345181	58793482	9	57											
UBR5	51366	broad.mit.edu	37	chr8	103289313	103289313	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggttttgaactctcAgtttcttctggcagcacggg	5	13	12	11	1	3	1	1	1	3	0	4	1	3	1	1	4	2	4	1	4	1	4			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr8:103289313A>G	ENST00000520539.1	-	45	7002	c.6396T>C	c.(6394-6396)acT>acC	p.T2132T	UBR5_ENST00000521922.1_Silent_p.T2126T|UBR5_ENST00000220959.4_Silent_p.T2132T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2132					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	protein binding|RNA 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)			TTGAACTCTCAGTTTCTTCTG	0.423													51	101					0	0	1	0	0	G	103289313	A	G	103289313	2	3	4	1	0	0	0	0	0	0	0	1	16966	175	7	4		4	UBR5	8	103289313	Silent	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		103289313	43074709	10	58											
C9orf41	138199	broad.mit.edu	37	chr9	77642981	77642983	+	In_Frame_Del	DEL	CTC	CTC	-																															aagtgctcacgctcaagcctCtcctcctcctcctcggtgct																										TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr9:77642981_77642983delCTC	ENST00000376834.3	-	1	327_329	c.175_177delGAG	c.(175-177)gagdel	p.E59del	C9orf41_ENST00000376830.3_In_Frame_Del_p.E59del|C9orf41_ENST00000376837.3_In_Frame_Del_p.E59del	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	59										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GCTCAAGCCTCTCCTCCTCCTCC	0.695													2	4	---	---	---	---						-	77642983	CTC	-	77642981	7	5	4	1	0	1	0	1	0	0	0	0	2500	912	32	0	1084	0	C9orf41	9	77642981	In_Frame_Del	DEL	CTC	TCGA-V4-A9E5-01A-11D-A39W-08		77642981	63570450	11	59											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								19	39					0	0	1	0	0	G	80409488	T	G	80409488	3	3	4	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9E5-01A-11D-A39W-08	2766507	80409488	60803943	12	60											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GGGGTAAAGGAGAGAAATCTC	0.363													8	120					0	0	1	0	0	C	11058340	A	C	11058340	1	2	4	0	1	0	0	0	0	0	0	0	1290	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		11058340	37071555	13	61											
SSX5	6758	broad.mit.edu	37	chrX	48054516	48054516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaccttccagaacggaCtgagattcaccaaatgtatt	12	11	6	12	1	1	2	1	1	0	2	3	4	3	3	4	1	1	1	4	1	3	5			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:48054516C>G	ENST00000311798.1	-	3	171	c.119G>C	c.(118-120)aGt>aCt	p.S40T	SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CCAGAACGGACTGAGATTCAC	0.537													29	65					0	0	1	0	0	G	48054516	C	G	48054516	3	3	4	1	0	0	0	0	1	0	0	0	15264	565	20	5	594	5	SSX5	23	48054516	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		48054516	107216044	14	62											
TSC22D3	1831	broad.mit.edu	37	chrX	107018505	107018505	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttcctgcagctgccGaaagttgctcactgtagggc	7	11	11	12	1	1	0	1	0	0	0	2	1	2	0	2	1	5	6	2	1	2	4			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:107018505G>T	ENST00000372383.4	-	1	512	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000506081.1_Silent_p.R49R|TSC22D3_ENST00000372384.2_Silent_p.R49R|TSC22D3_ENST00000315660.4_Silent_p.R49R	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	0	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						TGCAGCTGCCGAAAGTTGCTC	0.607													48	34					2.74224e-37	3.00341e-37	1	1	0	T	107018505	G	T	107018505	2	4	4	1	0	0	0	0	0	0	0	1	16670	1057	37	5		5	TSC22D3	23	107018505	Silent	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	58963989	107018505	48252055	15	63											
GPR101	83550	broad.mit.edu	37	chrX	136113492	136113492	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgttgacgctggcgaaggcGaacaggtgggtgaggctaac	9	7	18	7	3	0	2	0	2	0	0	0	4	0	2	0	5	2	3	0	5	3	2			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:136113492G>A	ENST00000298110.1	-	1	341	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	114						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)					TGGCGAAGGCGAACAGGTGGG	0.622													14	8					0	0	1	0	0	A	136113492	G	A	136113492	2	1	4	1	0	0	0	0	0	0	0	1	6662	1049	37	1		1	GPR101	23	136113492	Silent	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	29094987	136113492	19157068	16	64											
CADM3	57863	broad.mit.edu	37	chr1	159170598	159170598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctctacacaggaacCtacctgacacatgaggcaaa	13	8	7	13	0	2	2	0	2	2	0	3	3	2	3	2	2	3	1	2	2	4	2			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr1:159170598C>T	ENST00000368125.4	+	9	1240	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T395T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	361					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.T395T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACACAGGAACCTACCTGACAC	0.582													14	29					0	0	1	0	0	T	159170598	C	T	159170598	2	4	5	1	0	0	0	0	0	0	0	1	2586	668	24	3		3	CADM3	1	159170598	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		159170598	90080023	1	65											
IL1R1	3554	broad.mit.edu	37	chr2	102793054	102793054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacatggggctatccgctgGtcaggggactttacacaggg	10	8	14	9	1	1	0	1	0	0	0	2	1	2	1	1	6	2	2	1	6	3	3			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr2:102793054G>C	ENST00000410023.1	+	12	1863	c.1545G>C	c.(1543-1545)tgG>tgC	p.W515C	IL1R1_ENST00000409929.1_Missense_Mutation_p.W484C|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.W515C|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	515	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)	CTATCCGCTGGTCAGGGGACT	0.458													5	12					0	0	1	0	0	C	102793054	G	C	102793054	3	2	5	1	0	0	0	0	1	0	0	0	7702	1270	44	5	1583	5	IL1R1	2	102793054	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		102793054	140406319	2	66											
ATP13A5	344905	broad.mit.edu	37	chr3	193071963	193071963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttcaacctcaatggCgttgggcccacacactaatc	10	11	8	12	1	2	0	2	0	0	0	3	1	2	1	2	3	1	1	2	3	3	4			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr3:193071963C>T	ENST00000342358.4	-	6	676	c.559G>A	c.(559-561)Gcc>Acc	p.A187T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	187					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCTCAATGGCGTTGGGCCCA	0.388													42	6					0	0	1	0	0	T	193071963	C	T	193071963	3	4	5	1	0	0	0	0	1	0	0	0	1126	768	27	1	3195	1	ATP13A5	3	193071963	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		193071963	4950467	3	67											
TNPO1	3842	broad.mit.edu	37	chr5	72184017	72184017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctggactcttagccgCtatgcacactgggtggtcag	8	10	12	11	1	2	0	1	0	1	0	2	1	2	1	1	3	3	3	1	3	2	2			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:72184017C>T	ENST00000337273.5	+	13	1842	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	TNPO1_ENST00000523768.1_Silent_p.R422R|TNPO1_ENST00000454282.1_Silent_p.R422R|TNPO1_ENST00000506351.2_Silent_p.R464R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	472					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCTTAGCCGCTATGCACACT	0.488													34	52					0	0	1	0	0	T	72184017	C	T	72184017	2	4	5	1	0	0	0	0	0	0	0	1	16395	784	28	2		2	TNPO1	5	72184017	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		72184017	108731243	4	68											
PCDHB16	0	broad.mit.edu	37	chr5	140563665	140563665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcaacgcagacaacGgccacctgttcgccctcagg	9	7	8	17	3	3	1	2	0	1	1	5	1	3	1	4	2	2	2	4	2	2	1			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:140563665G>A	ENST00000361016.2	+	1	2686	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		511	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCAGACAACGGCCACCTGTT	0.682													31	59					0	0	1	0	0	A	140563665	G	A	140563665	3	1	5	1	0	0	0	0	1	0	0	0	11588	1116	39	1	1533	1	PCDHB16	5	140563665	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08	68379648	140563665	40351595	5	69											
CD109	135228	broad.mit.edu	37	chr6	74477911	74477911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgatggggaaattataaGtgatgttctaaaaattcctg	15	13	10	3	0	1	3	0	2	1	1	2	4	2	4	1	2	0	1	1	2	6	5			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:74477911G>T	ENST00000437994.2	+	14	2062	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	CD109_ENST00000287097.5_Missense_Mutation_p.S544I|CD109_ENST00000422508.2_Missense_Mutation_p.S467I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	544						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						GAAATTATAAGTGATGTTCTA	0.279													14	1					2.61681e-11	2.73576e-11	1	1	0	T	74477911	G	T	74477911	3	4	5	1	0	0	0	0	1	0	0	0	2985	1029	36	5	1685	5	CD109	6	74477911	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		74477911	96637156	6	70											
COL12A1	1303	broad.mit.edu	37	chr6	75890813	75890813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctcatcatccccagccGcttccttgtaggtgatgtga	7	12	9	13	1	2	3	2	3	0	0	4	3	4	3	5	1	1	2	5	1	1	3			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:75890813G>A	ENST00000322507.8	-	11	2315	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A669V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A669V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	669	Fibronectin type-III 3.				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						ATCCCCAGCCGCTTCCTTGTA	0.458													26	6					0	0	1	0	0	A	75890813	G	A	75890813	3	1	5	1	0	0	0	0	1	0	0	0	3692	1087	38	1	7409	1	COL12A1	6	75890813	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08	1412902	75890813	95224254	7	71											
FBXO10	26267	broad.mit.edu	37	chr9	37518321	37518321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggagatgctgttgttgGccactcgggtgggttggctg	4	12	18	7	1	0	1	0	0	0	1	1	2	0	1	1	5	2	6	1	5	0	3			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:37518321G>A	ENST00000432825.2	-	9	2363	c.2315C>T	c.(2314-2316)gCc>gTc	p.A772V	FBXO10_ENST00000541829.1_Missense_Mutation_p.A297V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	772						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)		GCTGTTGTTGGCCACTCGGGT	0.582													3	28					0	0	1	0	0	A	37518321	G	A	37518321	3	1	5	1	0	0	0	0	1	0	0	0	5759	1203	42	2	567	2	FBXO10	9	37518321	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		37518321	103695110	8	72											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								37	32					0	0	1	0	0	A	80409488	T	A	80409488	3	1	5	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9E7-01A-11D-A39W-08	42891167	80409488	60803943	9	73											
INPP5A	3632	broad.mit.edu	37	chr10	134595441	134595441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagtgttgtgtcgtgcAgtgacgtggtggtaaatatg	9	12	15	5	2	0	1	0	1	0	0	1	1	0	1	0	2	1	4	0	2	4	3			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr10:134595441A>T	ENST00000368594.3	+	15	1512	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L		NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	412					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGTGTCGTGCAGTGACGTGGT	0.527													41	61					0	0	1	0	0	T	134595441	A	T	134595441	3	4	5	1	0	0	0	0	1	0	0	0	7798	188	7	5	1293	5	INPP5A	10	134595441	Missense_Mutation	SNP	A	TCGA-V4-A9E7-01A-11D-A39W-08		134595441	939306	10	74											
FAT3	120114	broad.mit.edu	37	chr11	92620220	92620220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgcaggtagtaataaagGcagcaactctgaagttcagt	13	11	10	7	0	2	1	1	1	1	0	2	1	2	1	0	2	3	6	0	2	6	5			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr11:92620220G>T	ENST00000298047.6	+	24	13009	c.12992G>T	c.(12991-12993)gGc>gTc	p.G4331V	FAT3_ENST00000533797.1_Missense_Mutation_p.G666V|FAT3_ENST00000409404.2_Missense_Mutation_p.G4331V|FAT3_ENST00000525166.1_Missense_Mutation_p.G4181V|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4331					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)				AGTAATAAAGGCAGCAACTCT	0.478										TCGA Ovarian(4;0.039)			8	10					0.00448238	0.00448238	1	1	0	T	92620220	G	T	92620220	3	4	5	1	0	0	0	0	1	0	0	0	5724	1203	42	5	13086	5	FAT3	11	92620220	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		92620220	42386296	11	75											
OR6C65	403282	broad.mit.edu	37	chr12	55795145	55795145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagcagtgcttaatacctCtgttgctcctatgttgaatc	8	16	8	9	0	1	1	0	1	1	0	3	1	2	1	2	0	4	6	2	0	5	6			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr12:55795145C>T	ENST00000379665.2	+	1	932	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CTTAATACCTCTGTTGCTCCT	0.373													30	28					0	0	1	0	0	T	55795145	C	T	55795145	3	4	5	1	0	0	0	0	1	0	0	0	11242	913	32	3	835	3	OR6C65	12	55795145	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		55795145	78056750	12	76											
RAB2B	84932	broad.mit.edu	37	chr14	21936887	21936887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtagtaggaacgggtgaTagaacggaaggattcttgcc	11	9	14	7	2	1	2	0	1	1	1	1	5	1	5	2	4	3	2	2	4	6	5			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr14:21936887T>C	ENST00000397762.1	-	4	311	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GAACGGGTGATAGAACGGAAG	0.498													25	31					0	0	1	0	0	C	21936887	T	C	21936887	3	2	5	1	0	0	0	0	1	0	0	0	12970	1406	49	4	459	4	RAB2B	14	21936887	Missense_Mutation	SNP	T	TCGA-V4-A9E7-01A-11D-A39W-08		21936887	85412653	13	77											
FUK	197258	broad.mit.edu	37	chr16	70500085	70500085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctttcacctgcctcccCgtggagaaccccgaggcccc	6	6	11	18	2	1	1	1	0	0	1	2	3	2	1	8	3	2	1	8	3	1	1			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr16:70500085C>T	ENST00000288078.6	+	5	568	c.336C>T	c.(334-336)ccC>ccT	p.P112P	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.P95P|FUK_ENST00000378912.2_Silent_p.P144P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	112						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)				CCTGCCTCCCCGTGGAGAACC	0.637													29	8					0	0	1	0	0	T	70500085	C	T	70500085	2	4	5	1	0	0	0	0	0	0	0	1	6131	639	23	1		1	FUK	16	70500085	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		70500085	19854668	14	78											
ALKBH7	84266	broad.mit.edu	37	chr19	6374569	6374569	+	Frame_Shift_Del	DEL	T	T	-																															cgggggagtggctggaactcTtgctggagccgggctccctc																										TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:6374569delT	ENST00000245812.3	+	3	860	c.472delT	c.(472-474)ttgfs	p.L159fs	ALKBH7_ENST00000596657.1_Frame_Shift_Del_p.L17fs|ALKBH7_ENST00000599849.1_Frame_Shift_Del_p.L98fs	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	159						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCTGGAACTCTTGCTGGAGCC	0.642													22	16	---	---	---	---						-	6374569	T	-	6374569	7	5	5	1	0	1	0	1	0	0	0	0	528	1606	56	0	482	0	ALKBH7	19	6374569	Frame_Shift_Del	DEL	T	TCGA-V4-A9E7-01A-11D-A39W-08		6374569	52754414	15	79											
MUC16	94025	broad.mit.edu	37	chr19	9089401	9089401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgagagtgaggacaCtccctgctgtctcttcccct	6	11	11	13	0	1	2	0	2	1	1	4	4	3	3	3	2	2	2	3	2	0	1			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:9089401C>T	ENST00000397910.4	-	1	2617	c.2414G>A	c.(2413-2415)aGt>aAt	p.S805N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	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						AGTGAGGACACTCCCTGCTGT	0.512													64	83					0	0	1	0	0	T	9089401	C	T	9089401	3	4	5	1	0	0	0	0	1	0	0	0	10021	565	20	3	41445	3	MUC16	19	9089401	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08	2714832	9089401	50039582	16	80											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	1	2	3	3	1	2	5	7			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403													4	112					0	0	1	0	0	T	12575380	C	T	12575380	2	4	5	1	0	0	0	0	0	0	0	1	18169	564	20	3		3	ZNF709	19	12575380	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08	3485979	12575380	46553603	17	81											
BCL2L12	83596	broad.mit.edu	37	chr19	50173670	50173670	+	Frame_Shift_Del	DEL	G	G	-																															agccggcgcgtggccgggctGgggggcaccctggccggact																										TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:50173670delG	ENST00000246785.3	+	6	1137	c.879delG	c.(877-879)ctgfs	p.L293fs	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	293					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)		TGGCCGGGCTGGGGGGCACCC	0.751													2	4	---	---	---	---						-	50173670	G	-	50173670	7	5	5	1	0	1	0	1	0	0	0	0	1368	1335	47	0	901	0	BCL2L12	19	50173670	Frame_Shift_Del	DEL	G	TCGA-V4-A9E7-01A-11D-A39W-08	37598290	50173670	8955313	18	82											
IGFN1	91156	broad.mit.edu	37	chr1	201190723	201190723	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtctccagtggctcccGtgccatgtgggcaccgtgcc	5	8	13	15	2	1	0	0	0	1	0	3	1	2	0	5	2	2	2	5	2	0	0			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:201190723G>T	ENST00000335211.4	+	19	10180	c.10050G>T	c.(10048-10050)ccG>ccT	p.P3350P	IGFN1_ENST00000295591.8_Silent_p.P510P	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											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						AGTGGCTCCCGTGCCATGTGG	0.632													3	17					0.150653	0.157204	1	1	0	T	201190723	G	T	201190723	2	4	6	1	0	0	0	0	0	0	0	1	7634	1132	40	5		5	IGFN1	1	201190723	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		201190723	48059898	1	83											
RYR2	6262	broad.mit.edu	37	chr1	237777594	237777594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgccaggctcatgatgaaCaacgagtacattgtccccat	12	9	8	12	1	1	2	1	2	0	0	2	3	2	2	3	1	4	2	3	1	3	2			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:237777594C>A	ENST00000366574.2	+	37	5483	c.5166C>A	c.(5164-5166)aaC>aaA	p.N1722K	RYR2_ENST00000542537.1_Missense_Mutation_p.N1706K|RYR2_ENST00000360064.6_Missense_Mutation_p.N1720K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1722	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)			TCATGATGAACAACGAGTACA	0.527													11	8					0.010729	0.0117044	1	1	0	A	237777594	C	A	237777594	3	1	6	1	0	0	0	0	1	0	0	0	13821	477	17	5	5312	5	RYR2	1	237777594	Missense_Mutation	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08	36586871	237777594	11473027	2	84											
OR2L3	391192	broad.mit.edu	37	chr1	248224859	248224859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatcatctatagcctgagGaacaaggaggtgatgggggc	11	7	14	9	0	2	2	1	2	1	0	2	4	2	4	2	5	2	0	2	5	4	2			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:248224859G>A	ENST00000359959.3	+	1	876	c.876G>A	c.(874-876)agG>agA	p.R292R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	292					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)			ATAGCCTGAGGAACAAGGAGG	0.498													14	35					0	0	1	0	0	A	248224859	G	A	248224859	2	1	6	1	0	0	0	0	0	0	0	1	11056	1165	41	3		3	OR2L3	1	248224859	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	10447265	248224859	1025762	3	85											
PSME4	23198	broad.mit.edu	37	chr2	54096539	54096539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatggtatctcctacaGaaccagggtctcgctttctt	10	12	9	10	1	3	1	0	0	3	1	5	2	3	2	2	3	2	2	2	3	5	4			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr2:54096539G>A	ENST00000404125.1	-	44	5292	c.5237C>T	c.(5236-5238)tCt>tTt	p.S1746F	PSME4_ENST00000421748.2_Missense_Mutation_p.S890F|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1746					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCTCCTACAGAACCAGGGTC	0.398													48	111					0	0	1	0	0	A	54096539	G	A	54096539	3	1	6	1	0	0	0	0	1	0	0	0	12758	942	33	3	306	3	PSME4	2	54096539	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		54096539	189102834	4	86											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105890086	105890086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaattgataatgtcgtctGgattaaaactgttcttctgc	10	15	9	7	1	3	1	0	1	3	0	4	2	3	2	0	2	2	2	0	2	4	5			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr2:105890086G>T	ENST00000393359.2	-	9	2153	c.1727C>A	c.(1726-1728)cCa>cAa	p.P576Q	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P576Q			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	576					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						AATGTCGTCTGGATTAAAACT	0.433													3	58					1	1	1	1	0	T	105890086	G	T	105890086	3	4	6	1	0	0	0	0	1	0	0	0	15884	1348	47	5	871	5	TGFBRAP1	2	105890086	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	51793547	105890086	137309287	5	87											
HAND2	9464	broad.mit.edu	37	chr4	174450363	174450363	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggcggcggcggcagcTgcggcggcggcggcggcaaa	4	2	22	13	9	0	0	0	0	0	0	0	0	0	0	0	10	2	3	0	10	1	0			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr4:174450363T>A	ENST00000359562.4	-	1	1017	c.78A>T	c.(76-78)gcA>gcT	p.A26A	HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	26	Poly-Ala.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cggcggcagctgcggcggcgg	0.701													2	3					0	0	1	0	0	A	174450363	T	A	174450363	2	1	6	1	0	0	0	0	0	0	0	1	6991	1567	55	5		5	HAND2	4	174450363	Silent	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08		174450363	16703913	6	88											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	6	8	12	15	3	0	0	0	0	0	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													3	11					0	0	1	0	0	A	60241050	G	A	60241050	1	1	6	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		60241050	120674210	7	89											
ZNF354C	30832	broad.mit.edu	37	chr5	178506834	178506834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcatactggagagaaaccGtatcagtgtaatcagtgtgg	13	11	11	6	1	3	1	3	0	0	1	3	3	3	2	1	2	2	2	1	2	4	4			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr5:178506834G>A	ENST00000315475.6	+	5	1707	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAGAGAAACCGTATCAGTGTA	0.393													19	36					0	0	1	0	0	A	178506834	G	A	178506834	2	1	6	1	0	0	0	0	0	0	0	1	17923	1132	40	1		1	ZNF354C	5	178506834	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	118265784	178506834	2408426	8	90											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517782	113517782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtagtgctgaggttacTtctttttgacagactctttt	9	18	8	6	0	2	3	0	2	2	1	2	3	2	3	0	1	2	3	0	1	4	8			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr7:113517782T>C	ENST00000284601.3	-	4	3433	c.3365A>G	c.(3364-3366)aAg>aGg	p.K1122R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1122					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGTTACTTCTTTTTGAC	0.383													3	59					0	0	1	0	0	C	113517782	T	C	113517782	3	2	6	1	0	0	0	0	1	0	0	0	12420	1609	56	4	7	4	PPP1R3A	7	113517782	Missense_Mutation	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08		113517782	45620881	9	91											
SLC7A2	6542	broad.mit.edu	37	chr8	17417930	17417930	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaacctcgaagagtgagtcCcaggtcaccatgctgcagag	11	7	12	11	1	1	3	1	1	0	2	3	4	2	3	3	1	3	3	3	1	2	1			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr8:17417930C>A	ENST00000470360.1	+	11	1626	c.1509C>A	c.(1507-1509)tcC>tcA	p.S503S	SLC7A2_ENST00000522656.1_Silent_p.S464S|SLC7A2_ENST00000004531.10_Silent_p.S504S|SLC7A2_ENST00000398090.3_Silent_p.S503S|SLC7A2_ENST00000494857.1_Silent_p.S464S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	464					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGTGAGTCCCAGGTCACCA	0.552													39	36					5.71845e-15	6.86214e-15	1	1	0	A	17417930	C	A	17417930	2	1	6	1	0	0	0	0	0	0	0	1	14752	610	22	5		5	SLC7A2	8	17417930	Silent	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08		17417930	128946092	10	92											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18721576	18721576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgaacaaacagactcGggagcctgctgaggagaacc	12	6	12	11	1	0	4	0	2	0	2	1	6	0	5	2	2	6	2	2	2	3	1			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr9:18721576G>A	ENST00000380548.4	+	15	2258	c.1919G>A	c.(1918-1920)cGg>cAg	p.R640Q	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R640Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	640	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAACAGACTCGGGAGCCTGCT	0.592													30	50					0	0	1	0	0	A	18721576	G	A	18721576	3	1	6	1	0	0	0	0	1	0	0	0	273	1116	39	1	1981	1	ADAMTSL1	9	18721576	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		18721576	122491855	11	93											
PLCE1	51196	broad.mit.edu	37	chr10	95891952	95891952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacaatgcagtgagaagaGaagaaacagaaaatacagtt	20	7	9	5	0	1	4	0	1	1	4	1	6	1	4	0	0	4	2	0	0	8	3	rs145451189	by1000genomes	TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr10:95891952G>C	ENST00000371380.3	+	2	1463	c.1228G>C	c.(1228-1230)Gaa>Caa	p.E410Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.E102Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E410Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E102Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						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|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGAGAAGAGAAGAAACAGA	0.408													8	27					0	0	1	0	0	C	95891952	G	C	95891952	3	2	6	1	0	0	0	0	1	0	0	0	12082	943	33	5	1520	5	PLCE1	10	95891952	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		95891952	39642795	12	94											
PLCB2	5330	broad.mit.edu	37	chr15	40594218	40594218	+	Frame_Shift_Del	DEL	A	A	-																															acccgcttgcggtcagcaggAaacatctggaaaaagctgaa																										TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr15:40594218delA	ENST00000260402.3	-	7	771	c.522delT	c.(520-522)tttfs	p.F174fs	PLCB2_ENST00000456256.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000543785.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000557821.1_Frame_Shift_Del_p.F174fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	174					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)		GGTCAGCAGGAAACATCTGGA	0.582													8	7	---	---	---	---						-	40594218	A	-	40594218	7	5	6	1	0	1	0	1	0	0	0	0	12076	243	9	0	3139	0	PLCB2	15	40594218	Frame_Shift_Del	DEL	A	TCGA-V4-A9E8-01A-11D-A39W-08		40594218	61937174	13	95											
NACA2	342538	broad.mit.edu	37	chr17	59668490	59668490	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctcagcctgggactGcggcaactcctgctctgtag	5	10	11	15	1	2	0	1	0	2	0	4	1	3	1	3	2	4	3	3	2	2	1			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr17:59668490G>A	ENST00000521764.1	-	1	73	c.52C>T	c.(52-54)Cag>Tag	p.Q18*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	18					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GCCTGGGACTGCGGCAACTCC	0.567													18	30					0	0	1	0	0	A	59668490	G	A	59668490	4	1	6	1	0	0	0	0	0	1	0	0	10182	1328	46	2	599	2	NACA2	17	59668490	Nonsense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		59668490	21526720	14	96											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								11	22					0	0	1	0	0	T	3118942	A	T	3118942	3	4	6	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9E8-01A-11D-A39W-08		3118942	56010041	15	97											
SNAPC2	6618	broad.mit.edu	37	chr19	7987612	7987612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccgttcctggtgccccTggagcttctgggtcgggcag	4	9	15	13	2	1	0	0	0	1	0	3	2	2	1	4	4	3	3	4	4	1	2			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr19:7987612T>C	ENST00000221573.6	+	5	1019	c.968T>C	c.(967-969)cTg>cCg	p.L323P	SNAPC2_ENST00000597584.1_Missense_Mutation_p.L86P	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	323					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGGTGCCCCTGGAGCTTCTG	0.697													4	77					0	0	1	0	0	C	7987612	T	C	7987612	3	2	6	1	0	0	0	0	1	0	0	0	14889	1580	55	4	986	4	SNAPC2	19	7987612	Missense_Mutation	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08	4868670	7987612	51141371	16	98											
MN1	4330	broad.mit.edu	37	chr22	28194881	28194883	+	In_Frame_Del	DEL	GCT	GCT	-																															catgagggccgcgttttggcGctgctgctgctgctgctgtt																										TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr22:28194881_28194883delGCT	ENST00000302326.4	-	1	2603_2605	c.1649_1651delAGC	c.(1648-1653)cagcgc>cgc	p.Q550del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	550	Poly-Gln.						binding			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						GCGTTTTGGCgctgctgctgctg	0.645			T	ETV6	"AML, meningioma"								3	3	---	---	---	---						-	28194883	GCT	-	28194881	7	5	6	1	0	1	0	1	0	0	0	0	9722	1087	38	0	2319	0	MN1	22	28194881	In_Frame_Del	DEL	GCT	TCGA-V4-A9E8-01A-11D-A39W-08		28194881	23109685	17	99											
KDM6A	7403	broad.mit.edu	37	chrX	44918345	44918345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcagatacatggtgttcaAtagggtaagcctttgtataa	12	13	11	5	0	1	1	1	0	0	1	1	1	1	1	1	2	3	4	1	2	6	7			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chrX:44918345A>G	ENST00000377967.4	+	11	1011	c.970A>G	c.(970-972)Ata>Gta	p.I324V	KDM6A_ENST00000536777.1_Missense_Mutation_p.I324V|KDM6A_ENST00000543216.1_Missense_Mutation_p.I324V|KDM6A_ENST00000382899.4_Missense_Mutation_p.I324V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	324					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)|p.0(2)		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						ATGGTGTTCAATAGGGTAAGC	0.318			"D, N, F, S"		"renal, oesophageal SCC, MM"								25	7					0	0	1	0	0	G	44918345	A	G	44918345	3	3	6	1	0	0	0	0	1	0	0	0	8180	101	4	4	1012	4	KDM6A	23	44918345	Missense_Mutation	SNP	A	TCGA-V4-A9E8-01A-11D-A39W-08		44918345	110352215	18	100											
MPP1	4354	broad.mit.edu	37	chrX	154014531	154014531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgactccttggaggagcCttccacccgtccctgccacc	5	9	9	18	1	0	1	0	1	0	0	3	3	3	3	7	2	3	1	7	2	0	2			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chrX:154014531C>T	ENST00000413259.3	-	7	927	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.G209S|MPP1_ENST00000393531.1_Missense_Mutation_p.G189S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	209	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	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)					TTGGAGGAGCCTTCCACCCGT	0.532													5	82					0	0	1	0	0	T	154014531	C	T	154014531	3	4	6	1	0	0	0	0	1	0	0	0	9782	681	24	3	803	3	MPP1	23	154014531	Missense_Mutation	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08	109096186	154014531	1256029	19	101											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								22	35					0	0	1	0	0	T	198267483	C	T	198267483	3	4	7	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		198267483	44931890	1	102											
ADD1	118	broad.mit.edu	37	chr4	2877722	2877722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caaggagaggtacttcgaccGagtagatgagaacaacccag	15	5	12	9	2	0	3	0	1	0	3	1	7	0	3	2	2	3	2	2	2	5	3			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:2877722G>C	ENST00000355842.3	+	3	943	c.80G>C	c.(79-81)cGa>cCa	p.R27P	ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000398129.1_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P			P35611	ADDA_HUMAN	adducin 1 (alpha)	27					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACTTCGACCGAGTAGATGAG	0.527													31	44					0	0	1	0	0	C	2877722	G	C	2877722	3	2	7	1	0	0	0	0	1	0	0	0	303	1058	37	5	82	5	ADD1	4	2877722	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		2877722	188276554	2	103											
CENPE	1062	broad.mit.edu	37	chr4	104062907	104062907	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccccccataaaaatacCttttcttgtaatttagcatt	13	15	2	11	0	1	0	0	0	1	0	2	0	2	0	4	0	2	2	4	0	7	9			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:104062907C>G	ENST00000265148.3	-	35	5552	c.5463G>C	c.(5461-5463)aaG>aaC	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313													9	6					0	0	1	0	0	G	104062907	C	G	104062907	5	3	7	1	0	0	0	0	0	0	1	0	3252	695	24	5	2702	5	CENPE	4	104062907	Splice_Site	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08	101185185	104062907	87091369	3	104											
BTN2A1	11120	broad.mit.edu	37	chr6	26458919	26458919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccctcctcctcctcCtcctcagcctgtgtgcactg	3	11	6	21	0	1	0	1	0	0	0	7	0	7	0	8	0	3	1	8	0	0	0			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr6:26458919C>A	ENST00000429381.1	+	2	267	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	BTN2A1_ENST00000312541.5_Missense_Mutation_p.L19I|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	19					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						CCTCCTCCTCCTCCTCAGCCT	0.582													4	98					1	1	1	1	0	A	26458919	C	A	26458919	3	1	7	1	0	0	0	0	1	0	0	0	1563	681	24	5	57	5	BTN2A1	6	26458919	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		26458919	144656148	4	105											
TECPR1	25851	broad.mit.edu	37	chr7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-																															gtggcctcccatctgccgccAaaacctggaaggatgggaga																										TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	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	7	1	0	1	0	1	0	0	0	0	15802	130	5	0	1254	0	TECPR1	7	97858474	Frame_Shift_Del	DEL	A	TCGA-V4-A9E9-01A-11D-A39W-08		97858474	61280189	5	106											
CSMD3	114788	broad.mit.edu	37	chr8	113702197	113702197	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactggcattcaaaccttaaAacatcacgattagaaaatcc	18	9	4	10	1	2	1	2	0	0	1	3	2	3	1	2	1	3	1	2	1	7	3			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr8:113702197A>T	ENST00000297405.5	-	14	2299	c.2055T>A	c.(2053-2055)gtT>gtA	p.V685V	CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000352409.3_Silent_p.V685V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	685	Sushi 3.					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						CAAACCTTAAAACATCACGAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			66	178					0	0	1	0	0	T	113702197	A	T	113702197	2	4	7	1	0	0	0	0	0	0	0	1	3971	1	1	5		5	CSMD3	8	113702197	Silent	SNP	A	TCGA-V4-A9E9-01A-11D-A39W-08		113702197	32661825	6	107											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								45	55					0	0	1	0	0	G	80409488	T	G	80409488	3	3	7	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9E9-01A-11D-A39W-08		80409488	60803943	7	108											
ZNF484	83744	broad.mit.edu	37	chr9	95608788	95608788	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgctcatggagttgtgAtttcttaatgaaagacttgc	11	15	10	5	0	2	4	1	3	1	1	2	5	2	5	0	1	2	2	0	1	2	4			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:95608788A>C	ENST00000395505.2	-	3	2265	c.2173T>G	c.(2173-2175)Tca>Gca	p.S725A	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000375495.3_Missense_Mutation_p.S761A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGAGTTGTGATTTCTTAATG	0.393													40	65					0	0	1	0	0	C	95608788	A	C	95608788	3	2	7	1	0	0	0	0	1	0	0	0	17994	333	12	5	281	5	ZNF484	9	95608788	Missense_Mutation	SNP	A	TCGA-V4-A9E9-01A-11D-A39W-08	15199300	95608788	45604643	8	109											
DNAJC1	64215	broad.mit.edu	37	chr10	22055195	22055195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagtatgaactcacctgggGagcaggtcactgaatccttc	11	9	11	10	0	2	2	2	2	0	0	4	4	3	3	2	3	2	2	2	3	4	2			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:22055195G>C	ENST00000376980.3	-	10	1432	c.1142C>G	c.(1141-1143)tCc>tGc	p.S381C	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	381					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)				CTCACCTGGGGAGCAGGTCAC	0.353													56	56					0	0	1	0	0	C	22055195	G	C	22055195	3	2	7	1	0	0	0	0	1	0	0	0	4655	1174	41	5	534	5	DNAJC1	10	22055195	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		22055195	113479552	9	110											
CDHR1	92211	broad.mit.edu	37	chr10	85956312	85956312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctgagggagaccccatctCctaccacatcagctttgacc	9	8	7	17	0	2	3	1	2	1	1	3	4	2	3	6	1	2	1	6	1	1	2			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:85956312C>T	ENST00000372117.3	+	3	306	c.203C>T	c.(202-204)tCc>tTc	p.S68F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	68	Cadherin 1.				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						GACCCCATCTCCTACCACATC	0.507													29	26					0	0	1	0	0	T	85956312	C	T	85956312	3	4	7	1	0	0	0	0	1	0	0	0	3140	855	30	3	213	3	CDHR1	10	85956312	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08	63901117	85956312	49578435	10	111											
TMOD2	29767	broad.mit.edu	37	chr15	52065948	52065948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagcctatagaaactcGtaaagaagaaaaagtgaccc	21	5	8	7	1	0	5	0	1	0	4	1	5	0	5	2	0	2	1	2	0	10	3	rs114844653	by1000genomes	TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr15:52065948G>A	ENST00000249700.4	+	4	544	c.323G>A	c.(322-324)cGt>cAt	p.R108H	TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H|TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	108					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ATAGAAACTCGTAAAGAAGAA	0.408													44	39					0	0	1	0	0	A	52065948	G	A	52065948	3	1	7	1	0	0	0	0	1	0	0	0	16294	1145	40	1	333	1	TMOD2	15	52065948	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		52065948	50465444	11	112											
GP2	2813	broad.mit.edu	37	chr16	20331019	20331019	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattggaagttgatgttgagGatggtgtctctgatgatgaa	10	14	14	3	0	1	5	0	5	1	0	2	7	1	7	0	3	0	2	0	3	2	3			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr16:20331019G>T	ENST00000302555.5	-	6	1079	c.930C>A	c.(928-930)atC>atA	p.I310I	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000381362.4_Silent_p.I313I			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	313	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGATGTTGAGGATGGTGTCTC	0.448													82	77					1.5608e-48	1.80724e-48	1	1	0	T	20331019	G	T	20331019	2	4	7	1	0	0	0	0	0	0	0	1	6622	1164	41	5		5	GP2	16	20331019	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		20331019	70023734	12	113											
OVCA2	124641	broad.mit.edu	37	chr17	1945490	1945491	+	Frame_Shift_Ins	INS	-	-	C																															ggcccgcacccggtccccgaINSccccccgggccccgagggcg																										TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:1945490_1945491insC	ENST00000572195.1	+	1	164_165	c.149_150insC	c.(148-153)gaccccfs	p.DP50fs	DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	50					response to retinoic acid	cytoplasm	hydrolase activity										CCGGTCCCCGACCCCCCGGGCC	0.703											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						C	1945491	-	C	1945490	7	5	7	1	0	1	1	0	0	0	0	0	11369	275	10	0	151	0	OVCA2	17	1945490	Frame_Shift_Ins	INS	-	TCGA-V4-A9E9-01A-11D-A39W-08		1945490	79249720	13	114											
GSG2	83903	broad.mit.edu	37	chr17	3628701	3628701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaacgctgtgagaagattgGggaaggggtgtttggcgaag	10	8	19	4	2	0	2	0	1	0	2	0	5	0	3	0	5	1	3	0	5	4	2			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:3628701G>C	ENST00000325418.4	+	1	1491	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	491	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GAGAAGATTGGGGAAGGGGTG	0.458													27	42					0	0	1	0	0	C	3628701	G	C	3628701	3	2	7	1	0	0	0	0	1	0	0	0	6863	1232	43	5	1474	5	GSG2	17	3628701	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08	1683211	3628701	77566509	14	115											
CHST9	83539	broad.mit.edu	37	chr18	24496802	24496802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttcaaatgcttcccGtagtggacagcattgtggga	9	12	11	9	1	2	0	1	0	1	0	3	2	3	2	1	2	3	4	1	2	2	5			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr18:24496802G>A	ENST00000284224.8	-	6	1030	c.753C>T	c.(751-753)taC>taT	p.Y251Y	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	251					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AATGCTTCCCGTAGTGGACAG	0.423													3	73					0	0	1	0	0	A	24496802	G	A	24496802	2	1	7	1	0	0	0	0	0	0	0	1	3433	1140	40	1		1	CHST9	18	24496802	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		24496802	53580446	15	116											
ADAMTS10	81794	broad.mit.edu	37	chr19	8656924	8656924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccatggagtccacggccCccaggctccgtccacaccct	6	5	9	21	2	0	0	0	0	0	0	3	1	3	1	8	3	0	1	8	3	0	0			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:8656924C>A	ENST00000270328.4	-	13	1917	c.1651G>T	c.(1651-1653)Ggg>Tgg	p.G551W	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	551	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCACGGCCCCCAGGCTCCG	0.687													5	33					0.0293803	0.0307794	1	1	0	A	8656924	C	A	8656924	3	1	7	1	0	0	0	0	1	0	0	0	255	623	22	5	1712	5	ADAMTS10	19	8656924	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		8656924	50472059	16	117											
ZNF439	90594	broad.mit.edu	37	chr19	11978607	11978607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcacactggagagaaaccGtatgaatgtaaacaatgtgg	16	8	10	7	1	1	2	1	1	0	1	1	4	1	3	1	2	2	2	1	2	6	2			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:11978607G>A	ENST00000304030.2	+	3	923	c.723G>A	c.(721-723)ccG>ccA	p.P241P	ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P241P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAGAAACCGTATGAATGTA	0.363													4	92					0	0	1	0	0	A	11978607	G	A	11978607	2	1	7	1	0	0	0	0	0	0	0	1	17968	1132	40	1		1	ZNF439	19	11978607	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08	3321683	11978607	47150376	17	118											
LILRA1	11024	broad.mit.edu	37	chr19	55106755	55106755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccgggccatcttctcTgtgggccccgtgagcccgag	3	9	14	15	3	2	1	0	1	2	0	4	2	3	1	5	3	1	0	5	3	0	1			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:55106755T>C	ENST00000453777.1	+	5	719	c.549T>C	c.(547-549)tcT>tcC	p.S183S	LILRA1_ENST00000251372.3_Silent_p.S183S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S183S(1)		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)		CCATCTTCTCTGTGGGCCCCG	0.567													4	155					0	0	1	0	0	C	55106755	T	C	55106755	2	2	7	1	0	0	0	0	0	0	0	1	8824	1567	55	4		4	LILRA1	19	55106755	Silent	SNP	T	TCGA-V4-A9E9-01A-11D-A39W-08	43128148	55106755	4022228	18	119											
C20orf96	140680	broad.mit.edu	37	chr20	258020	258021	+	Frame_Shift_Del	DEL	AA	AA	-																															agctgctctgcctgctgctcAagatctggggaggggttagg																										TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr20:258020_258021delAA	ENST00000360321.2	-	7	707_708	c.569_570delTT	c.(568-570)cttfs	p.L190fs	C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	190										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGCTGCTCAAGATCTGGGGA	0.574													91	115	---	---	---	---						-	258021	AA	-	258020	7	5	7	1	0	1	0	1	0	0	0	0	2136	117	5	0	541	0	C20orf96	20	258020	Frame_Shift_Del	DEL	AA	TCGA-V4-A9E9-01A-11D-A39W-08		258020	62767500	19	120											
NPHP4	261734	broad.mit.edu	37	chr1	6012777	6012777	+	Frame_Shift_Del	DEL	G	G	-																															cacctcctggaagtggtcctGgacgtggagctccagcagct																										TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr1:6012777delG	ENST00000378156.4	-	7	1058	c.793delC	c.(793-795)cagfs	p.Q265fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	265					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTGGTCCTGGACGTGGAGC	0.637													2	4	---	---	---	---						-	6012777	G	-	6012777	7	5	8	1	0	1	0	1	0	0	0	0	10628	1357	47	0	3583	0	NPHP4	1	6012777	Frame_Shift_Del	DEL	G	TCGA-V4-A9EA-01A-11D-A39W-08		6012777	243237844	1	121											
KDM1A	23028	broad.mit.edu	37	chr1	23377001	23377001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaggtttttcttttcatTagaaaccgcacagtaagttt	12	15	7	7	1	2	2	1	0	1	2	2	2	2	2	1	1	1	4	1	1	4	7			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr1:23377001T>C	ENST00000400181.4	+	4	803	c.699T>C	c.(697-699)atT>atC	p.I233I	KDM1A_ENST00000356634.3_Silent_p.I213I|KDM1A_ENST00000542151.1_Silent_p.I233I|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	213	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|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 transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTTTTCATTAGAAACCGCA	0.378													3	79					0	0	1	0	0	C	23377001	T	C	23377001	2	2	8	1	0	0	0	0	0	0	0	1	8166	1742	61	4		4	KDM1A	1	23377001	Silent	SNP	T	TCGA-V4-A9EA-01A-11D-A39W-08	17364224	23377001	225873620	2	122											
SF3B1	23451	broad.mit.edu	37	chr2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	9	15	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	4	5			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		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)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome								27	36					0	0	1	0	0	A	198267484	G	A	198267484	3	1	8	1	0	0	0	0	1	0	0	0	14203	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		198267484	44931889	3	123											
ITPR3	3710	broad.mit.edu	37	chr6	33654821	33654821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctcctggctctgatggaGagccggcatgacagtgaaaa	10	8	13	10	1	1	4	0	3	1	1	2	5	2	4	2	3	2	3	2	3	2	0			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr6:33654821G>A	ENST00000374316.5	+	45	7075	c.6015G>A	c.(6013-6015)gaG>gaA	p.E2005E	ITPR3_ENST00000605930.1_Silent_p.E2005E			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2005					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCTGATGGAGAGCCGGCATG	0.642													64	31					0	0	1	0	0	A	33654821	G	A	33654821	2	1	8	1	0	0	0	0	0	0	0	1	7966	933	33	3		3	ITPR3	6	33654821	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		33654821	137460246	4	124											
C6orf89	221477	broad.mit.edu	37	chr6	36882388	36882388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgccagtaccctgaggCgacagaaggcttctctgaag	9	10	12	10	1	1	3	0	2	1	1	2	4	1	3	2	2	2	2	2	2	3	3			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr6:36882388C>T	ENST00000480824.2	+	6	908	c.614C>T	c.(613-615)gCg>gTg	p.A205V	C6orf89_ENST00000510325.2_Missense_Mutation_p.A99V|C6orf89_ENST00000355190.3_Missense_Mutation_p.A212V|C6orf89_ENST00000359359.2_Missense_Mutation_p.A99V|C6orf89_ENST00000373685.1_Missense_Mutation_p.A205V			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	205						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TACCCTGAGGCGACAGAAGGC	0.507													125	78					0	0	1	0	0	T	36882388	C	T	36882388	3	4	8	1	0	0	0	0	1	0	0	0	2388	768	27	1	653	1	C6orf89	6	36882388	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08	3227567	36882388	134232679	5	125											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18906784	18906784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctacctgtggcaactacGgcttccagtcccggcgtgtg	6	9	12	14	3	0	0	0	0	0	0	2	0	2	0	3	3	4	3	3	3	3	3			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr9:18906784G>A	ENST00000380548.4	+	28	5395	c.5056G>A	c.(5056-5058)Ggc>Agc	p.G1686S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G387S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1686	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACTACGGCTTCCAGTC	0.647													15	18					0	0	1	0	0	A	18906784	G	A	18906784	3	1	8	1	0	0	0	0	1	0	0	0	273	1116	39	1	5170	1	ADAMTSL1	9	18906784	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		18906784	122306647	6	126											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								40	38					0	0	1	0	0	A	80409488	T	A	80409488	3	1	8	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EA-01A-11D-A39W-08	61502704	80409488	60803943	7	127											
DSCAML1	57453	broad.mit.edu	37	chr11	117307958	117307958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtcagaaacacctcccCggagctgttggcccggaggc	7	7	12	15	3	1	1	1	0	0	1	3	3	3	3	5	4	2	2	5	4	1	2			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr11:117307958C>T	ENST00000321322.6	-	26	4781	c.4780G>A	c.(4780-4782)Ggg>Agg	p.G1594R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1324R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1534					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)		AACACCTCCCCGGAGCTGTTG	0.652													6	36					0	0	1	0	0	T	117307958	C	T	117307958	3	4	8	1	0	0	0	0	1	0	0	0	4795	652	23	1	1593	1	DSCAML1	11	117307958	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		117307958	17698558	8	128											
ACVRL1	94	broad.mit.edu	37	chr12	52309169	52309169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgcggcatgcggcctggcGcacctgcacgtggagatctt	5	8	14	14	5	1	1	0	0	1	1	2	2	2	1	3	4	2	3	3	4	0	1			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr12:52309169G>A	ENST00000550683.1	+	6	1076	c.975G>A	c.(973-975)gcG>gcA	p.A325A	ACVRL1_ENST00000419526.2_Silent_p.A137A|ACVRL1_ENST00000388922.4_Silent_p.A311A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	311	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCGGCCTGGCGCACCTGCACG	0.607													13	21					0	0	1	0	0	A	52309169	G	A	52309169	2	1	8	1	0	0	0	0	0	0	0	1	224	1074	38	1		1	ACVRL1	12	52309169	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		52309169	81542726	9	129											
PYGL	5836	broad.mit.edu	37	chr14	51379761	51379761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctgcttcaccttggCgagttcccggaggaagacat	8	9	11	13	2	2	1	2	0	0	1	3	4	3	3	3	3	1	3	3	3	1	3			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr14:51379761C>T	ENST00000216392.7	-	13	1938	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	PYGL_ENST00000532462.1_Missense_Mutation_p.A536T|PYGL_ENST00000544180.2_Missense_Mutation_p.A502T|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	536					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTCACCTTGGCGAGTTCCCGG	0.483													3	31					0	0	1	0	0	T	51379761	C	T	51379761	3	4	8	1	0	0	0	0	1	0	0	0	12913	768	27	1	969	1	PYGL	14	51379761	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		51379761	55969779	10	130											
TBX6	6911	broad.mit.edu	37	chr16	30102139	30102139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactccttccatagctccCggttctccaggctcaggctg	6	11	9	15	1	2	1	1	1	1	0	6	1	5	1	4	3	2	4	4	3	2	3			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr16:30102139C>T	ENST00000553607.1	-	2	986	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	TBX6_ENST00000395224.2_Missense_Mutation_p.R98Q|TBX6_ENST00000279386.2_Missense_Mutation_p.R98Q			O95947	TBX6_HUMAN	T-box 6	98					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCATAGCTCCCGGTTCTCCAG	0.637													22	18					0	0	1	0	0	T	30102139	C	T	30102139	3	4	8	1	0	0	0	0	1	0	0	0	15722	652	23	1	1045	1	TBX6	16	30102139	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		30102139	60252614	11	131											
CRISPLD2	83716	broad.mit.edu	37	chr16	84940226	84940226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggatggaaaggccttccGgatctttgctgtcaggcagt	7	11	14	9	2	2	0	1	0	1	0	4	3	3	3	2	5	1	2	2	5	1	2	rs147087796		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr16:84940226G>A	ENST00000262424.5	+	15	1696	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R490Q	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	491						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AAGGCCTTCCGGATCTTTGCT	0.537													11	55					0	0	1	0	0	A	84940226	G	A	84940226	3	1	8	1	0	0	0	0	1	0	0	0	3906	1116	39	1	1526	1	CRISPLD2	16	84940226	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08	54838087	84940226	5414527	12	132											
PHLPP1	23239	broad.mit.edu	37	chr18	60587193	60587193	+	Splice_Site	DEL	T	T	-																															tttgtccctttttatacagcTtattttgtaatagcagtctc																										TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr18:60587193delT	ENST00000400316.4	+	10	3051	c.1270delT	c.(1270-1272)tta>ta	p.L424fs	PHLPP1_ENST00000262719.5_Splice_Site_p.L936fs	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	936					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTTATACAGCTTATTTTGTAA	0.393													2	4	---	---	---	---						-	60587193	T	-	60587193	8	5	8	1	0	1	0	1	0	0	1	0	11902	1623	56	0	2844	0	PHLPP1	18	60587193	Splice_Site	DEL	T	TCGA-V4-A9EA-01A-11D-A39W-08		60587193	17490055	13	133											
ZSWIM1	90204	broad.mit.edu	37	chr20	44511331	44511331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctcccatggccctgacaAtgctgaatgggctcctgatt	7	12	9	13	0	1	3	0	3	1	0	4	3	3	3	3	2	1	2	3	2	2	1			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr20:44511331A>G	ENST00000372523.1	+	2	195	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M34V	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	34							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GGCCCTGACAATGCTGAATGG	0.512													5	46					0	0	1	0	0	G	44511331	A	G	44511331	3	3	8	1	0	0	0	0	1	0	0	0	18280	101	4	4	102	4	ZSWIM1	20	44511331	Missense_Mutation	SNP	A	TCGA-V4-A9EA-01A-11D-A39W-08		44511331	18514189	14	134											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C																															atcgctgaaaggggtaaaggAgagaaatctctttataaaac																								rs28617310	by1000genomes	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GGGGTAAAGGAGAGAAATCTC	0.363													6	166					0	0	1	0	0	C	11058340	A	C	11058340	1	2	8	0	1	0	0	0	0	0	0	0	1290	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-V4-A9EA-01A-11D-A39W-08		11058340	37071555	15	135	1	2									
BAGE2	85319	broad.mit.edu	37	chr21	11058348	11058348	+	RNA	SNP	C	C	A																															aaggggtaaaggagagaaatCtctttataaaaccttgaaaa																										TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr21:11058348C>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GGAGAGAAATCTCTTTATAAA	0.343													4	138					0.00024832	0.0002716	1	1	0	A	11058348	C	A	11058348	1	1	8	0	1	0	0	0	0	0	0	0	1290	928	32	5		5	BAGE2	21	11058348	RNA	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08	8	11058348	37071547	16	136	1	2									
MORC2	22880	broad.mit.edu	37	chr22	31332573	31332573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctcttcctgcgtcttCatgtcctttctgaatgttcc	3	19	6	13	1	4	1	1	1	3	0	8	1	7	1	3	0	2	2	3	0	1	5			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr22:31332573C>T	ENST00000397641.3	-	17	2070	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	MORC2_ENST00000215862.4_Missense_Mutation_p.M492I|MORC2_ENST00000469915.1_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCTGCGTCTTCATGTCCTTTC	0.522													58	61					0	0	1	0	0	T	31332573	C	T	31332573	3	4	8	1	0	0	0	0	1	0	0	0	9751	826	29	3	1476	3	MORC2	22	31332573	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		31332573	19971993	17	137											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													6	11	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	8	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-V4-A9EA-01A-11D-A39W-08		49208295	106062265	18	138											
DDX3Y	8653	broad.mit.edu	37	chrY	15028513	15028513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgaagaatatgtgcatCgtattggccgtacaggacgt	12	12	11	6	3	0	2	0	1	0	1	1	3	0	3	1	2	2	3	1	2	6	6			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chrY:15028513C>A	ENST00000336079.3	+	14	1682	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S	DDX3Y_ENST00000360160.4_Missense_Mutation_p.R526S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	526	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATATGTGCATCGTATTGGCCG	0.383													3	60					0.004672	0.00495515	1	1	0	A	15028513	C	A	15028513	3	1	8	1	0	0	0	0	1	0	0	0	4382	884	31	5	1630	5	DDX3Y	24	15028513	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		15028513	44345053	19	139											
TNFRSF8	0	broad.mit.edu	37	chr1	12164444	12164444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccttagacgacctcGtggagaagacgccgtgtgca	8	9	13	11	4	0	3	0	0	0	3	2	5	1	3	3	1	1	1	3	1	2	1	rs141205943		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:12164444G>A	ENST00000263932.2	+	4	499	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	93					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.V93M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGACGACCTCGTGGAGAAGAC	0.592													17	19					0	0	1	0	0	A	12164444	G	A	12164444	3	1	9	1	0	0	0	0	1	0	0	0	16359	1145	40	1	291	1	TNFRSF8	1	12164444	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		12164444	237086177	1	140											
RGL1	23179	broad.mit.edu	37	chr1	183885710	183885710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaaaatccacaagcgcTctgtctcggtgacgtccatt	10	9	7	15	3	2	1	0	1	2	0	5	1	4	1	4	1	1	1	4	1	3	1			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:183885710T>C	ENST00000304685.4	+	17	2433	c.1984T>C	c.(1984-1986)Tct>Cct	p.S662P	RGL1_ENST00000360851.3_Missense_Mutation_p.S627P|RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCACAAGCGCTCTGTCTCGGT	0.493													3	59					0	0	1	0	0	C	183885710	T	C	183885710	3	2	9	1	0	0	0	0	1	0	0	0	13328	1551	54	4	2046	4	RGL1	1	183885710	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	171721266	183885710	65364911	2	141											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415244	213415244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggagtggttgagtcagcaGtaactgcaaacaacacagaa	15	8	11	7	0	1	2	1	1	0	1	1	3	1	3	0	2	5	4	0	2	4	3			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:213415244G>T	ENST00000366960.3	+	11	2575	c.2425G>T	c.(2425-2427)Gta>Tta	p.V809L	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	809	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAGTCAGCAGTAACTGCAAA	0.393													37	37					5.43694e-19	5.9312e-19	1	1	0	T	213415244	G	T	213415244	3	4	9	1	0	0	0	0	1	0	0	0	13710	1029	36	5	2467	5	RPS6KC1	1	213415244	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	29529534	213415244	35835377	3	142											
RYR2	6262	broad.mit.edu	37	chr1	237791261	237791261	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgccaaagacctacacGataaatggtgtgtccgtgga	11	8	11	11	2	0	1	0	0	0	1	1	3	1	2	4	2	2	0	4	2	4	2			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:237791261G>T	ENST00000366574.2	+	41	6638	c.6321G>T	c.(6319-6321)acG>acT	p.T2107T	RYR2_ENST00000542537.1_Silent_p.T2091T|RYR2_ENST00000360064.6_Silent_p.T2105T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2107	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)			AGACCTACACGATAAATGGTG	0.547													13	17					7.03913e-09	7.45319e-09	1	1	0	T	237791261	G	T	237791261	2	4	9	1	0	0	0	0	0	0	0	1	13821	1045	37	5		5	RYR2	1	237791261	Silent	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	24376017	237791261	11459360	4	143											
FANCL	55120	broad.mit.edu	37	chr2	58388662	58388662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttttattttttacctcatAtaagcatatttgatggaaag	13	19	5	4	0	1	1	1	1	0	0	1	2	1	2	1	1	2	1	1	1	6	10			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:58388662A>G	ENST00000402135.3	-	12	1066	c.1030T>C	c.(1030-1032)Tat>Cat	p.Y344H	FANCL_ENST00000233741.4_Missense_Mutation_p.Y339H|FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	339					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TTTACCTCATATAAGCATATT	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	28					0	0	1	0	0	G	58388662	A	G	58388662	3	3	9	1	0	0	0	0	1	0	0	0	5703	449	16	4	124	4	FANCL	2	58388662	Missense_Mutation	SNP	A	TCGA-V4-A9EC-01A-11D-A39W-08		58388662	184810711	5	144											
SF3B1	23451	broad.mit.edu	37	chr2	198267370	198267370	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaatcttaataccagTgtgtctcgcttgccaggact	9	14	8	10	1	2	0	0	0	2	0	3	1	2	1	2	1	3	2	2	1	4	5			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:198267370T>G	ENST00000335508.6	-	14	2078	c.1987A>C	c.(1987-1989)Act>Cct	p.T663P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	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)			TTAATACCAGTGTGTCTCGCT	0.418			Mis		myelodysplastic syndrome								17	24					0	0	1	0	0	G	198267370	T	G	198267370	3	3	9	1	0	0	0	0	1	0	0	0	14203	1696	59	5	1975	5	SF3B1	2	198267370	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	139878708	198267370	44932003	6	145											
SLC27A6	28965	broad.mit.edu	37	chr5	128302199	128302199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttcgttcacgtgtggttCggcctcgccaagctgggctg	4	11	14	12	4	1	0	1	0	0	0	4	1	1	0	2	3	1	4	2	3	1	3			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:128302199C>T	ENST00000262462.4	+	1	1379	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SLC27A6_ENST00000506176.1_Silent_p.F123F|SLC27A6_ENST00000395266.1_Silent_p.F123F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	123					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACGTGTGGTTCGGCCTCGCCA	0.592													11	13					0	0	1	0	0	T	128302199	C	T	128302199	2	4	9	1	0	0	0	0	0	0	0	1	14585	883	31	1		1	SLC27A6	5	128302199	Silent	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		128302199	52613061	7	146											
ARSI	340075	broad.mit.edu	37	chr5	149677696	149677696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcaggtcaccatggccGcgtacttccgccgggccaca	7	6	11	17	4	1	0	1	0	0	0	2	0	2	0	6	3	2	2	6	3	1	2			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:149677696G>A	ENST00000328668.7	-	2	1370	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	264						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			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)			CACCATGGCCGCGTACTTCCG	0.587													3	26					0	0	1	0	0	A	149677696	G	A	149677696	3	1	9	1	0	0	0	0	1	0	0	0	993	1087	38	1	922	1	ARSI	5	149677696	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	21375497	149677696	31237564	8	147											
SLC39A7	7922	broad.mit.edu	37	chr6	33169207	33169208	+	Frame_Shift_Ins	INS	-	-	T																															catggccacagccatgcccaINStggccatggccacactcacg																										TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:33169207_33169208insT	ENST00000374677.3	+	1	558_559	c.185_186insT	c.(184-189)catggcfs	p.G63fs	SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	63	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.S59_H66delSHAHGHGH(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCCATGCCCATGGCCATGGCC	0.559													32	32	---	---	---	---						T	33169208	-	T	33169207	7	5	9	1	0	1	1	0	0	0	0	0	14678	217	8	0	187	0	SLC39A7	6	33169207	Frame_Shift_Ins	INS	-	TCGA-V4-A9EC-01A-11D-A39W-08		33169207	137945860	9	148											
KLHL31	401265	broad.mit.edu	37	chr6	53519136	53519136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggactcggcagccacctCggattcttgttcgcctagat	7	10	11	13	4	1	1	0	0	1	1	4	4	1	3	3	3	1	2	3	3	1	4			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:53519136C>T	ENST00000370905.3	-	2	1075	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	KLHL31_ENST00000407079.1_Missense_Mutation_p.R312Q	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCAGCCACCTCGGATTCTTGT	0.483													54	58					0	0	1	0	0	T	53519136	C	T	53519136	3	4	9	1	0	0	0	0	1	0	0	0	8428	884	31	1	977	1	KLHL31	6	53519136	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	20349929	53519136	117595931	10	149											
AIM1	202	broad.mit.edu	37	chr6	106960619	106960619	+	Frame_Shift_Del	DEL	A	A	-																															ccgccaaggagtccccacccAagagggtgcccgatcccagc																										TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:106960619delA	ENST00000369066.3	+	1	890	c.403delA	c.(403-405)aagfs	p.K135fs		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	135							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)		GTCCCCACCCAAGAGGGTGCC	0.756													2	4	---	---	---	---						-	106960619	A	-	106960619	7	5	9	1	0	1	0	1	0	0	0	0	427	131	5	0	405	0	AIM1	6	106960619	Frame_Shift_Del	DEL	A	TCGA-V4-A9EC-01A-11D-A39W-08	53441483	106960619	64154448	11	150											
MUC17	140453	broad.mit.edu	37	chr7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacccctgggaccacttctGctgaagccacttcatctcct	7	10	7	17	0	3	1	1	1	2	0	4	2	3	2	5	1	2	2	5	1	1	2			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1431T(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)					GACCACTTCTGCTGAAGCCAC	0.488													6	183					0	0	1	0	0	A	100678988	G	A	100678988	3	1	9	1	0	0	0	0	1	0	0	0	10022	1319	46	2	4301	2	MUC17	7	100678988	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		100678988	58459675	12	151											
TYRP1	7306	broad.mit.edu	37	chr9	12695537	12695541	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-																															aggagaaatcttctggacttAagtaaagaagaaaagaacca																										TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:12695537_12695541delAAGTA	ENST00000388918.5	+	3	537_541	c.408_412delAAGTA	c.(406-414)ttaagtaaafs	p.SK137fs	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	137					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)		TTCTGGACTTAAGTAAAGAAGAAAA	0.429									Oculocutaneous Albinism				13	76	---	---	---	---						-	12695541	AAGTA	-	12695537	7	5	9	1	0	1	0	1	0	0	0	0	16878	359	13	0	414	0	TYRP1	9	12695537	Frame_Shift_Del	DEL	AAGTA	TCGA-V4-A9EC-01A-11D-A39W-08		12695537	128517894	13	152											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								41	43					0	0	1	0	0	G	80409488	T	G	80409488	3	3	9	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	67713951	80409488	60803943	14	153											
SETX	23064	broad.mit.edu	37	chr9	135205194	135205194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttacatggaggtgctttGaattttatgtttctaataat	10	19	9	3	0	1	1	0	1	1	0	1	2	1	2	0	2	2	3	0	2	5	7			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:135205194G>C	ENST00000372169.2	-	10	1973	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	SETX_ENST00000224140.5_Missense_Mutation_p.F597L|SETX_ENST00000393220.1_Missense_Mutation_p.F597L			Q7Z333	SETX_HUMAN	senataxin	597					cell death|double-strand break repair|RNA processing	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)		GAGGTGCTTTGAATTTTATGT	0.358													7	18					0	0	1	0	0	C	135205194	G	C	135205194	3	2	9	1	0	0	0	0	1	0	0	0	14195	1281	45	5	6310	5	SETX	9	135205194	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	54795706	135205194	6008237	15	154											
PNPLA7	375775	broad.mit.edu	37	chr9	140374845	140374845	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagcgctgggtccagggTgtgagcgtgccatctacctg	6	8	15	12	3	1	1	0	1	1	0	2	1	2	1	3	2	4	2	3	2	1	1			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:140374845T>C	ENST00000406427.1	-	23	2835	c.2499A>G	c.(2497-2499)acA>acG	p.T833T	PNPLA7_ENST00000277531.4_Silent_p.T808T|PNPLA7_ENST00000371457.1_Silent_p.T414T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	808					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTCCAGGGTGTGAGCGTGC	0.677													15	14					0	0	1	0	0	C	140374845	T	C	140374845	2	2	9	1	0	0	0	0	0	0	0	1	12218	1683	59	4		4	PNPLA7	9	140374845	Silent	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	5169651	140374845	838586	16	155											
HK1	3098	broad.mit.edu	37	chr10	71144107	71144107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaatggtgacttcttggCcctggatcttggaggaacca	10	10	13	8	0	2	2	0	1	2	1	2	6	2	5	2	5	1	0	2	5	2	3			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr10:71144107C>T	ENST00000448642.2	+	16	2083	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	HK1_ENST00000404387.2_Missense_Mutation_p.A534V|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000359426.6_Missense_Mutation_p.A530V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	530	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GACTTCTTGGCCCTGGATCTT	0.473													39	61					0	0	1	0	0	T	71144107	C	T	71144107	3	4	9	1	0	0	0	0	1	0	0	0	7231	739	26	2	1809	2	HK1	10	71144107	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		71144107	64390640	17	156											
SACS	26278	broad.mit.edu	37	chr13	23913291	23913291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacattatcatgaattccCgactcataatgatgggaatg	14	11	8	8	2	2	2	2	2	0	0	3	5	3	3	1	1	1	0	1	1	5	3			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:23913291C>T	ENST00000382298.3	-	10	5312	c.4724G>A	c.(4723-4725)cGg>cAg	p.R1575Q	SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382292.3_Missense_Mutation_p.R1575Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1575			R -> P (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein 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)		CATGAATTCCCGACTCATAAT	0.338													3	47					0	0	1	0	0	T	23913291	C	T	23913291	3	4	9	1	0	0	0	0	1	0	0	0	13856	652	23	1	9019	1	SACS	13	23913291	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		23913291	91256587	18	157											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679303	37679303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgatgcccagataaaCgtctccaaaggagccagacc	12	6	12	11	1	1	3	0	1	1	2	2	4	1	4	4	3	3	0	4	3	3	1			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:37679303C>T	ENST00000379800.3	-	1	500	c.91G>A	c.(91-93)Gtt>Att	p.V31I		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	31	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCCAGATAAACGTCTCCAAAG	0.537													3	75					0	0	1	0	0	T	37679303	C	T	37679303	3	4	9	1	0	0	0	0	1	0	0	0	3976	536	19	1	926	1	CSNK1A1L	13	37679303	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	13766012	37679303	77490575	19	158											
COL4A2	1284	broad.mit.edu	37	chr13	111098204	111098204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcctggatggctatcaagGgcctgatggaccccggggac	8	6	16	11	1	1	1	1	1	0	0	1	4	1	4	4	7	0	1	4	7	2	1			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:111098204G>C	ENST00000360467.5	+	17	1292	c.986G>C	c.(985-987)gGg>gCg	p.G329A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	329	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)			GGCTATCAAGGGCCTGATGGA	0.512													37	49					0	0	1	0	0	C	111098204	G	C	111098204	3	2	9	1	0	0	0	0	1	0	0	0	3713	1232	43	5	1048	5	COL4A2	13	111098204	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	73418901	111098204	4071674	20	159											
NDN	4692	broad.mit.edu	37	chr15	23932001	23932001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacatctttcaccatgtctgGaaaccagatgatcatcttct	11	13	6	11	0	6	2	2	1	4	1	6	4	6	3	2	1	1	0	2	1	1	2			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:23932001G>T	ENST00000331837.4	-	1	449	c.364C>A	c.(364-366)Cca>Aca	p.P122T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	122	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACCATGTCTGGAAACCAGATG	0.622									Prader-Willi syndrome				11	100					2.27111e-07	2.336e-07	1	1	0	T	23932001	G	T	23932001	3	4	9	1	0	0	0	0	1	0	0	0	10294	1174	41	5	605	5	NDN	15	23932001	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		23932001	78599391	21	160											
LRRC49	54839	broad.mit.edu	37	chr15	71193327	71193327	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaacgttcttctgaagAgaaaattctttactcagaca	13	14	5	9	1	6	3	2	1	4	2	6	4	6	3	0	0	2	1	0	0	5	6			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:71193327A>C	ENST00000260382.5	+	4	520	c.260A>C	c.(259-261)gAg>gCg	p.E87A	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	87						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCTTCTGAAGAGAAAATTCTT	0.313													15	19					0	0	1	0	0	C	71193327	A	C	71193327	3	2	9	1	0	0	0	0	1	0	0	0	9051	304	11	5	274	5	LRRC49	15	71193327	Missense_Mutation	SNP	A	TCGA-V4-A9EC-01A-11D-A39W-08	47261326	71193327	31338065	22	161											
KRTAP4-4	84616	broad.mit.edu	37	chr17	39316785	39316785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtggtcctgcagcaggtGgtctggcagcactggggtct	5	9	17	10	0	2	0	0	0	2	0	3	0	3	0	1	7	3	4	1	7	0	0			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr17:39316785G>A	ENST00000390661.3	-	1	198	c.159C>T	c.(157-159)acC>acT	p.T53T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	53	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAGGTGGTCTGGCAGC	0.672													12	18					0	0	1	0	0	A	39316785	G	A	39316785	2	1	9	1	0	0	0	0	0	0	0	1	8596	1335	47	3		3	KRTAP4-4	17	39316785	Silent	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		39316785	41878425	23	162											
DSG1	1828	broad.mit.edu	37	chr18	28913603	28913603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctgaccgagatggcgggGcagatggcatgtcagcggaa	9	6	17	9	3	2	3	1	1	1	2	2	5	2	4	1	5	1	3	1	5	1	0			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr18:28913603G>A	ENST00000257192.4	+	7	948	c.736G>A	c.(736-738)Gca>Aca	p.A246T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	246	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGATGGCGGGGCAGATGGCAT	0.428													26	26					0	0	1	0	0	A	28913603	G	A	28913603	3	1	9	1	0	0	0	0	1	0	0	0	4802	1203	42	2	762	2	DSG1	18	28913603	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		28913603	49163645	24	163											
SIM2	6493	broad.mit.edu	37	chr21	38115707	38115707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagattgaatacaaggaaCttcagctgtccctggagcag	12	8	13	8	0	1	2	1	1	0	1	2	5	2	4	1	3	4	2	1	3	4	3			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr21:38115707C>T	ENST00000290399.6	+	9	1631	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	340	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(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ATACAAGGAACTTCAGCTGTC	0.587													7	46					0	0	1	0	0	T	38115707	C	T	38115707	3	4	9	1	0	0	0	0	1	0	0	0	14379	565	20	3	1052	3	SIM2	21	38115707	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		38115707	10014188	25	164											
EP300	2033	broad.mit.edu	37	chr22	41573600	41573600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccgatgactcccaTggcccccatgggtatgaacc	8	7	10	16	1	0	2	0	2	0	0	1	4	1	2	6	2	2	1	6	2	2	1			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr22:41573600T>C	ENST00000263253.7	+	31	7104	c.5885T>C	c.(5884-5886)aTg>aCg	p.M1962T	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1962					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGACTCCCATGGCCCCCATG	0.597			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				26	34					0	0	1	0	0	C	41573600	T	C	41573600	3	2	9	1	0	0	0	0	1	0	0	0	5176	1464	51	4	6007	4	EP300	22	41573600	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08		41573600	9730966	26	165											
EIF1AX	1964	broad.mit.edu	37	chrX	20156731	20156731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	5	18	6	12	1	1	1	0	1	1	0	2	1	2	1	5	1	4	2	5	1	4	8			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313													24	21					0	0	1	0	0	T	20156731	C	T	20156731	3	4	9	1	0	0	0	0	1	0	0	0	5018	507	18	3	432	3	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		20156731	135113829	27	166											
GABRE	2564	broad.mit.edu	37	chrX	151131076	151131076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtaacagaggcgttcgtCgtaccaggtctgggagaaga	10	9	15	7	3	1	3	0	0	1	3	3	4	1	3	1	3	2	4	1	3	3	4			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:151131076C>T	ENST00000370325.1	-	4	435	c.382G>A	c.(382-384)Gac>Aac	p.D128N	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.D128N			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	128					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGTTCGTCGTACCAGGTC	0.463													36	35					0	0	1	0	0	T	151131076	C	T	151131076	3	4	9	1	0	0	0	0	1	0	0	0	6205	884	31	1	1162	1	GABRE	23	151131076	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	130974345	151131076	4139484	28	167											
RENBP	5973	broad.mit.edu	37	chrX	153207074	153207074	+	Frame_Shift_Del	DEL	G	G	-																															gcctttccgaatgcaatgacGgagcagaaaccagccggctt																										TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:153207074delG	ENST00000393700.3	-	8	882	c.802delC	c.(802-804)cgtfs	p.R268fs	RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	268					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase 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)	ATGCAATGACGGAGCAGAAAC	0.637													21	46	---	---	---	---						-	153207074	G	-	153207074	7	5	9	1	0	1	0	1	0	0	0	0	13277	1116	39	0	497	0	RENBP	23	153207074	Frame_Shift_Del	DEL	G	TCGA-V4-A9EC-01A-11D-A39W-08	2075998	153207074	2063486	29	168											
SPEN	23013	broad.mit.edu	37	chr1	16259500	16259500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgcaggtgcacaggcGctgcagccttctgaggaagg	7	5	14	15	2	1	1	0	1	1	0	1	2	1	2	4	4	3	4	4	4	1	1			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:16259500G>A	ENST00000375759.3	+	11	6969	c.6765G>A	c.(6763-6765)gcG>gcA	p.A2255A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2255	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGCACAGGCGCTGCAGCCTT	0.537													4	129					0	0	1	0	0	A	16259500	G	A	16259500	2	1	10	1	0	0	0	0	0	0	0	1	15094	1074	38	1		1	SPEN	1	16259500	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		16259500	232991121	1	169											
PADI6	353238	broad.mit.edu	37	chr1	17723476	17723477	+	RNA	INS	-	-	CA																															cactggcccaggaatgcaccINScaggtggctgggcctggccc																								rs67024576	by1000genomes	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						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)	AGGAATGCACCCAGGTGGCTGG	0.629													4	4	---	---	---	---						CA	17723477	-	CA	17723476	6	5	10	0	1	1	1	0	0	0	0	0	11428	638	22	0		0	PADI6	1	17723476	RNA	INS	-	TCGA-V4-A9ED-01A-11D-A39W-08	1463976	17723476	231527145	2	170											
WDR65	149465	broad.mit.edu	37	chr1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtctagctacctgcatccGcaaaccccttatagccacct	9	9	6	17	2	1	0	0	0	1	0	2	0	2	0	6	1	5	3	6	1	5	4			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458													4	113					0	0	1	0	0	A	43663300	G	A	43663300	3	1	10	1	0	0	0	0	1	0	0	0	17376	1087	38	1	1221	1	WDR65	1	43663300	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	25939824	43663300	205587321	3	171											
FOXD3	27022	broad.mit.edu	37	chr1	63790123	63790123	+	Frame_Shift_Del	DEL	C	C	-																															gcccgcagcctcggccgccgCcgctgctgcggccgccgctc																										TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:63790123delC	ENST00000371116.2	+	1	1394	c.1394delC	c.(1393-1395)gccfs	p.A471fs		NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	471	Poly-Ala.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						tcggccgccgccgctgctgcg	0.697													2	4	---	---	---	---						-	63790123	C	-	63790123	7	5	10	1	0	1	0	1	0	0	0	0	6031	739	26	0	1396	0	FOXD3	1	63790123	Frame_Shift_Del	DEL	C	TCGA-V4-A9ED-01A-11D-A39W-08	20126823	63790123	185460498	4	172											
HSD17B7	51478	broad.mit.edu	37	chr1	162773243	162773243	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctattccaatgtggcctGtccaggtacagcattgacca	9	12	8	12	0	1	1	0	1	1	0	4	1	3	1	4	2	2	2	4	2	3	4			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:162773243G>C	ENST00000254521.3	+	6	720	c.665G>C	c.(664-666)tGt>tCt	p.C222S	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	222					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATGTGGCCTGTCCAGGTACA	0.413													21	42					0	0	1	0	0	C	162773243	G	C	162773243	3	2	10	1	0	0	0	0	1	0	0	0	7429	1377	48	5	687	5	HSD17B7	1	162773243	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	98983120	162773243	86477378	5	173											
DTL	51514	broad.mit.edu	37	chr1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacagccaaattttgggacGtaaaagctggtgagctgatt	14	10	11	6	1	0	2	0	2	0	0	0	3	0	3	1	2	4	3	1	2	4	4			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:212220678G>A	ENST00000366991.4	+	5	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.V85I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	127					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|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	165					0	0	1	0	0	A	212220678	G	A	212220678	3	1	10	1	0	0	0	0	1	0	0	0	4813	1145	40	1	397	1	DTL	1	212220678	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	49447435	212220678	37029943	6	174											
PLXND1	23129	broad.mit.edu	37	chr3	129303286	129303286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggttgcagtaggcaatCtggtgaccaaaggcagggcc	11	6	16	8	0	1	1	0	1	1	0	1	2	1	2	2	6	1	5	2	6	3	2			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:129303286C>A	ENST00000393239.1	-	6	2149	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	PLXND1_ENST00000324093.4_Missense_Mutation_p.Q657H			Q9Y4D7	PLXD1_HUMAN	plexin D1	657					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						AGTAGGCAATCTGGTGACCAA	0.637													4	39					0.00909568	0.00909568	1	1	0	A	129303286	C	A	129303286	3	1	10	1	0	0	0	0	1	0	0	0	12175	912	32	5	3930	5	PLXND1	3	129303286	Missense_Mutation	SNP	C	TCGA-V4-A9ED-01A-11D-A39W-08		129303286	68719144	7	175											
CEP164	22897	broad.mit.edu	37	chr11	117267963	117267963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgagctggccagtgcGcaggaggtggccaaagaccc	9	4	15	13	2	0	2	0	1	0	1	0	3	0	3	4	4	2	2	4	4	1	0	rs149964584	by1000genomes	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:117267963G>A	ENST00000278935.3	+	27	3582	c.3435G>A	c.(3433-3435)gcG>gcA	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cell division|DNA repair|G2/M transition of mitotic cell cycle|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)		TGGCCAGTGCGCAGGAGGTGG	0.617													3	36					0	0	1	0	0	A	117267963	G	A	117267963	2	1	10	1	0	0	0	0	0	0	0	1	3271	1074	38	1		1	CEP164	11	117267963	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		117267963	17738553	8	176											
ETS1	2113	broad.mit.edu	37	chr11	128360370	128360370	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttttgggatccccagtcGttgctgttctttagtgaaac	7	15	9	10	1	1	1	0	1	1	0	3	2	2	2	3	1	2	3	3	1	2	6			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:128360370G>A	ENST00000392668.4	-	4	400	c.316C>T	c.(316-318)Cga>Tga	p.R106*	ETS1_ENST00000319397.6_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1		PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|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.R106*(1)|p.R62*(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)		ATCCCCAGTCGTTGCTGTTCT	0.438													15	86					0	0	1	0	0	A	128360370	G	A	128360370	4	1	10	1	0	0	0	0	0	1	0	0	5303	1153	40	1	1169	1	ETS1	11	128360370	Nonsense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	11092407	128360370	6646146	9	177											
NACA	4666	broad.mit.edu	37	chr12	57113149	57113149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggccagcactaaggtaGccagaggagcacaggtattc	12	5	14	10	0	0	1	0	0	0	1	1	2	0	2	2	5	3	4	2	5	3	4			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr12:57113149G>A	ENST00000454682.1	-	3	2446	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CACTAAGGTAGCCAGAGGAGC	0.512			T	BCL6	NHL								9	6					0	0	1	0	0	A	57113149	G	A	57113149	3	1	10	1	0	0	0	0	1	0	0	0	10181	971	34	2	4099	2	NACA	12	57113149	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		57113149	76738746	10	178											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcagtatttatttccTgaccgtgctgagtgttgtgc	7	15	11	8	1	0	2	0	2	0	0	1	2	1	2	2	0	4	5	2	0	3	6			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					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)	ATTTATTTCCTGACCGTGCTG	0.468													83	115					0	0	1	0	0	A	49281339	T	A	49281339	3	1	10	1	0	0	0	0	1	0	0	0	4225	1580	55	5	388	5	CYSLTR2	13	49281339	Missense_Mutation	SNP	T	TCGA-V4-A9ED-01A-11D-A39W-08		49281339	65888539	11	179											
LMO7	4008	broad.mit.edu	37	chr13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatgatctttatgtgcGcaagctcagtccagtcatgc	11	11	10	9	1	3	1	2	1	1	0	4	2	4	2	1	1	3	2	1	1	3	2			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:76379755G>A	ENST00000357063.3	+	10	2471	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H			Q8WWI1	LMO7_HUMAN	LIM domain 7	404						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413													4	202					0	0	1	0	0	A	76379755	G	A	76379755	3	1	10	1	0	0	0	0	1	0	0	0	8896	1087	38	1	1249	1	LMO7	13	76379755	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	27098416	76379755	38790123	12	180											
SBNO2	22904	broad.mit.edu	37	chr19	1122978	1122978	+	Frame_Shift_Del	DEL	G	G	-																															ccagggtgtaggtgatgtctGggggtgggacgctggacagt																										TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr19:1122978delG	ENST00000361757.3	-	8	932	c.695delC	c.(694-696)ccafs	p.P232fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	232					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GGTGATGTCTGGGGGTGGGAC	0.662													3	6	---	---	---	---						-	1122978	G	-	1122978	7	5	10	1	0	1	0	1	0	0	0	0	13916	1348	47	0	3505	0	SBNO2	19	1122978	Frame_Shift_Del	DEL	G	TCGA-V4-A9ED-01A-11D-A39W-08		1122978	58006005	13	181											
BCAS1	8537	broad.mit.edu	37	chr20	52570145	52570145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcggctgctgacttcttGtccttcgaggagccctcttt	4	15	9	13	2	3	1	0	1	3	0	6	3	4	2	2	2	2	2	2	2	0	4			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr20:52570145G>C	ENST00000395961.3	-	11	1672	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	502						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTGACTTCTTGTCCTTCGAGG	0.532													33	42					0	0	1	0	0	C	52570145	G	C	52570145	3	2	10	1	0	0	0	0	1	0	0	0	1348	1368	48	5	256	5	BCAS1	20	52570145	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		52570145	10455375	14	182											
PCNT	5116	broad.mit.edu	37	chr21	47845774	47845774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagatggtgcgtgacgagagCcaccagatcctggcgctgtc	8	7	14	12	3	0	4	0	1	0	3	2	5	1	4	3	2	2	1	3	2	0	0			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr21:47845774C>T	ENST00000359568.5	+	33	7316	c.7209C>T	c.(7207-7209)agC>agT	p.S2403S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2403					cilium assembly|G2/M transition of mitotic cell cycle	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)					GTGACGAGAGCCACCAGATCC	0.637													4	88					0	0	1	0	0	T	47845774	C	T	47845774	2	4	10	1	0	0	0	0	0	0	0	1	11637	738	26	2		2	PCNT	21	47845774	Silent	SNP	C	TCGA-V4-A9ED-01A-11D-A39W-08		47845774	284121	15	183											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987749	154987749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgcagccgcaagcccCggaaagctttcctgcaaacc	9	4	9	19	4	0	0	0	0	0	0	1	1	1	1	7	1	5	4	7	1	3	1			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:154987749C>T	ENST00000368426.3	+	3	750	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	205					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			CCGCAAGCCCCGGAAAGCTTT	0.647													13	27					0	0	1	0	0	T	154987749	C	T	154987749	3	4	11	1	0	0	0	0	1	0	0	0	17613	643	23	1	615	1	ZBTB7B	1	154987749	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		154987749	94262872	1	184											
SLC26A9	115019	broad.mit.edu	37	chr1	205897160	205897160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactgtgagaccacaggcGacaccggggtggggaacctg	9	5	15	12	2	0	1	0	1	0	1	1	4	1	2	4	5	1	0	4	5	1	0			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:205897160G>A	ENST00000367135.3	-	9	1084	c.971C>T	c.(970-972)tCg>tTg	p.S324L	SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324						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)			GACCACAGGCGACACCGGGGT	0.627													12	14					0	0	1	0	0	A	205897160	G	A	205897160	3	1	11	1	0	0	0	0	1	0	0	0	14579	1059	37	1	1752	1	SLC26A9	1	205897160	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	50909411	205897160	43353461	2	185											
RGS12	6002	broad.mit.edu	37	chr4	3419159	3419159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatccctgaatgaagagctGggggatgaggacagcgagaa	13	5	16	7	2	0	5	0	3	0	2	1	9	1	7	1	3	2	1	1	3	3	0			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:3419159G>A	ENST00000336727.3	+	9	3556	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000538395.1_Silent_p.L226L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.L884L|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.L884L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	884						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)		ATGAAGAGCTGGGGGATGAGG	0.498													15	25					0	0	1	0	0	A	3419159	G	A	3419159	2	1	11	1	0	0	0	0	0	0	0	1	13345	1335	47	3		3	RGS12	4	3419159	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		3419159	187735117	3	186											
EVC	2121	broad.mit.edu	37	chr4	5798849	5798849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaccctgacgcagatgCggctatcggggaagaagcac	10	5	14	12	3	0	3	0	1	0	2	1	4	0	4	2	4	2	3	2	4	3	1			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:5798849C>T	ENST00000382674.2	+	14	2171	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.R663W			P57679	EVC_HUMAN	Ellis van Creveld syndrome	663					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)				GACGCAGATGCGGCTATCGGG	0.677													3	38					0	0	1	0	0	T	5798849	C	T	5798849	3	4	11	1	0	0	0	0	1	0	0	0	5313	759	27	1	2041	1	EVC	4	5798849	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	2379690	5798849	185355427	4	187											
KIF13B	23303	broad.mit.edu	37	chr8	29024912	29024912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttggtcagctgctccCggagtttctcaacttcttcc	4	15	8	14	1	3	0	2	0	2	0	6	1	5	1	2	2	4	4	2	2	1	4			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:29024912C>T	ENST00000524189.1	-	11	1174	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	379					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCCCGGAGTTTCTC	0.552													28	19					0	0	1	0	0	T	29024912	C	T	29024912	3	4	11	1	0	0	0	0	1	0	0	0	8317	652	23	1	4464	1	KIF13B	8	29024912	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		29024912	117339110	5	188											
RALYL	138046	broad.mit.edu	37	chr8	85799947	85799947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgaaggagggccagatgCcgatggagaagagatgacag	13	5	17	6	1	0	5	0	2	0	3	0	9	0	6	2	3	2	1	2	3	2	0			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:85799947C>T	ENST00000521268.1	+	8	1899	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RALYL_ENST00000518566.1_Missense_Mutation_p.A254V|RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	265							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGGCCAGATGCCGATGGAGAA	0.488													4	212					0	0	1	0	0	T	85799947	C	T	85799947	3	4	11	1	0	0	0	0	1	0	0	0	13072	739	26	2	863	2	RALYL	8	85799947	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	56775035	85799947	60564075	6	189											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								33	27					0	0	1	0	0	G	80409488	T	G	80409488	3	3	11	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		80409488	60803943	7	190											
ZNF79	7633	broad.mit.edu	37	chr9	130206861	130206861	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgctcagctcttgttcaGcatcagagaattcataccgg	10	11	9	11	1	5	1	4	0	1	1	5	3	5	1	1	1	4	4	1	1	2	4			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:130206861G>A	ENST00000342483.5	+	5	1288	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ZNF79_ENST00000543471.1_Silent_p.Q270Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTTGTTCAGCATCAGAGAA	0.542													3	45					0	0	1	0	0	A	130206861	G	A	130206861	2	1	11	1	0	0	0	0	0	0	0	1	18210	962	34	2		2	ZNF79	9	130206861	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	49797373	130206861	11006570	8	191											
PMPCA	23203	broad.mit.edu	37	chr9	139316331	139316331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacatcaatgctcatgatGaacctggaatccaggcctgt	11	10	9	11	0	2	3	2	3	0	0	3	4	3	4	3	2	2	1	3	2	3	0			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:139316331G>A	ENST00000371717.3	+	12	1320	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	437					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCTCATGATGAACCTGGAAT	0.622													25	15					0	0	1	0	0	A	139316331	G	A	139316331	3	1	11	1	0	0	0	0	1	0	0	0	12188	1290	45	3	1357	3	PMPCA	9	139316331	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	9109470	139316331	1897100	9	192											
CHAT	1103	broad.mit.edu	37	chr10	50863168	50863168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagactggtgcccacctaCgagagcgcgtccatccgccg	8	5	12	16	6	0	2	0	0	0	2	2	4	2	2	5	1	3	0	5	1	2	1	rs145370753		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr10:50863168C>T	ENST00000395562.2	+	13	1885	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y|CHAT_ENST00000337653.2_Silent_p.Y554Y|CHAT_ENST00000395559.2_Silent_p.Y436Y|CHAT_ENST00000351556.3_Silent_p.Y436Y	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	554					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)	TGCCCACCTACGAGAGCGCGT	0.527													28	45					0	0	1	0	0	T	50863168	C	T	50863168	2	4	11	1	0	0	0	0	0	0	0	1	3335	547	19	1		1	CHAT	10	50863168	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		50863168	84671579	10	193											
OR51B6	390058	broad.mit.edu	37	chr11	5372973	5372973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaccacaatgcccacagTgctaggtgttctgtggttag	9	12	11	9	0	1	1	0	1	1	0	1	1	1	1	2	2	2	3	2	2	3	4			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:5372973T>C	ENST00000380219.1	+	1	236	c.236T>C	c.(235-237)gTg>gCg	p.V79A	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCACAGTGCTAGGTGTT	0.478													45	27					0	0	1	0	0	C	5372973	T	C	5372973	3	2	11	1	0	0	0	0	1	0	0	0	11140	1696	59	4	238	4	OR51B6	11	5372973	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		5372973	129633543	11	194											
MTNR1B	4544	broad.mit.edu	37	chr11	92703062	92703062	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccgtggacgtcgtgggCaacctcctggtgatcctctc	5	9	12	15	4	1	1	0	1	1	0	5	2	3	2	5	3	1	1	5	3	1	0			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:92703062C>A	ENST00000257068.2	+	1	177	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	57					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	ACGTCGTGGGCAACCTCCTGG	0.682													4	6					0.0215528	0.0215528	1	1	0	A	92703062	C	A	92703062	2	1	11	1	0	0	0	0	0	0	0	1	10000	697	25	5		5	MTNR1B	11	92703062	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	87330089	92703062	42303454	12	195											
MTMR10	54893	broad.mit.edu	37	chr15	31253222	31253224	+	In_Frame_Del	DEL	CCT	CCT	-																															tgccaccaccagctccattaCctcctcctcctcctcctcct																										TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:31253222_31253224delCCT	ENST00000435680.1	-	7	715_717	c.618_620delAGG	c.(616-621)ggaggt>ggt	p.206_207GG>G	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_In_Frame_Del_p.124_125GG>G|MTMR10_ENST00000425768.1_In_Frame_Del_p.E176del	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	206	Poly-Gly.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AGCTCCATTAcctcctcctcctc	0.463													2	4	---	---	---	---						-	31253224	CCT	-	31253222	7	5	11	1	0	1	0	1	0	0	0	0	9987	507	18	0	1753	0	MTMR10	15	31253222	In_Frame_Del	DEL	CCT	TCGA-V4-A9EE-01A-11D-A39W-08		31253222	71278170	13	196											
FBN1	2200	broad.mit.edu	37	chr15	48730066	48730066	+	Missense_Mutation	SNP	G	G	A																															gatttctggatttgggtgatGaacactttcctccttcaaac																										TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730066G>A	ENST00000316623.5	-	51	6667	c.6212C>T	c.(6211-6213)tCa>tTa	p.S2071L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				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)		TTTGGGTGATGAACACTTTCC	0.493													32	60					0	0	1	0	0	A	48730066	G	A	48730066	3	1	11	1	0	0	0	0	1	0	0	0	5735	1294	45	3	2467	3	FBN1	15	48730066	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	17476844	48730066	53801326	14	197	2	2									
FBN1	2200	broad.mit.edu	37	chr15	48730067	48730067	+	Missense_Mutation	SNP	A	A	G																															atttctggatttgggtgatgAacactttcctccttcaaact																										TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730067A>G	ENST00000316623.5	-	51	6666	c.6211T>C	c.(6211-6213)Tca>Cca	p.S2071P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				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)		TTGGGTGATGAACACTTTCCT	0.493													32	61					0	0	1	0	0	G	48730067	A	G	48730067	3	3	11	1	0	0	0	0	1	0	0	0	5735	246	9	4	2468	4	FBN1	15	48730067	Missense_Mutation	SNP	A	TCGA-V4-A9EE-01A-11D-A39W-08	1	48730067	53801325	15	198	2	2									
EFTUD1	79631	broad.mit.edu	37	chr15	82517553	82517553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaactgcaaacattttGgaaacaaatataataactgg	18	10	6	7	0	1	0	1	0	0	0	1	1	1	1	0	2	5	2	0	2	7	5			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:82517553G>A	ENST00000268206.7	-	12	1413	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	EFTUD1_ENST00000359445.3_Silent_p.S364S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	415					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAACATTTTGGAAACAAATA	0.378													14	20					0	0	1	0	0	A	82517553	G	A	82517553	2	1	11	1	0	0	0	0	0	0	0	1	4986	1335	47	3		3	EFTUD1	15	82517553	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	33787486	82517553	20013839	16	199											
HDAC5	10014	broad.mit.edu	37	chr17	42157822	42157822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggggggtccacacctcctgtCcatgccacgttcacattgta	7	10	10	14	1	1	0	1	0	0	0	4	0	4	0	5	3	1	2	5	3	1	3			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr17:42157822C>G	ENST00000225983.6	-	22	3098	c.2775G>C	c.(2773-2775)tgG>tgC	p.W925C	HDAC5_ENST00000393622.2_Missense_Mutation_p.W924C|HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	924	Histone deacetylase.				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	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-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)		CACCTCCTGTCCATGCCACGT	0.592													22	24					0	0	1	0	0	G	42157822	C	G	42157822	3	3	11	1	0	0	0	0	1	0	0	0	7051	856	30	5	620	5	HDAC5	17	42157822	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		42157822	39037388	17	200											
SBK2	646643	broad.mit.edu	37	chr19	56041168	56041168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgctgcctccaggggcGccccaggtgctccctgatgg	3	7	13	18	2	0	1	0	1	0	0	3	1	3	1	6	4	2	2	6	4	0	0			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr19:56041168G>A	ENST00000413299.1	-	4	1016	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	327	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCAGGGGCGCCCCAGGTGC	0.736													4	18					0	0	1	0	0	A	56041168	G	A	56041168	3	1	11	1	0	0	0	0	1	0	0	0	13914	1087	38	1	70	1	SBK2	19	56041168	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		56041168	3087815	18	201											
DSTN	11034	broad.mit.edu	37	chr20	17581467	17581471	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-																															gctccacaccagaagaaatcAagaaaagaaagaaggctgtc																										TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr20:17581467_17581471delAAGAA	ENST00000246069.7	+	2	434_438	c.88_92delAAGAA	c.(88-93)aagaaafs	p.KK30fs	DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGAAATCAAGAAAAGAAAGAAG	0.385													19	50	---	---	---	---						-	17581471	AAGAA	-	17581467	7	5	11	1	0	1	0	1	0	0	0	0	4810	131	5	0	94	0	DSTN	20	17581467	Frame_Shift_Del	DEL	AAGAA	TCGA-V4-A9EE-01A-11D-A39W-08		17581467	45444053	19	202											
TBC1D10A	83874	broad.mit.edu	37	chr22	30690061	30690061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggcgacaccttctgcaaCagcgagaaaaggatctcccc	12	5	9	15	3	2	1	0	0	2	1	3	4	2	2	4	2	3	1	4	2	3	1			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr22:30690061C>T	ENST00000215790.7	-	7	908	c.744G>A	c.(742-744)ctG>ctA	p.L248L	RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403362.1_Silent_p.L160L|TBC1D10A_ENST00000403477.3_Silent_p.L255L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	248	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTTCTGCAACAGCGAGAAAA	0.602													26	31					0	0	1	0	0	T	30690061	C	T	30690061	2	4	11	1	0	0	0	0	0	0	0	1	15655	465	17	3		3	TBC1D10A	22	30690061	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		30690061	20614505	20	203											
ZNF157	7712	broad.mit.edu	37	chrX	47272125	47272125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacacaggggagaggccctTtgaatgtaatgaatgtggga	12	9	14	6	0	1	3	1	2	0	1	1	5	1	4	1	4	0	1	1	4	3	2			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:47272125T>C	ENST00000377073.3	+	4	739	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	218					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGAGGCCCTTTGAATGTAAT	0.438													29	3					0	0	1	0	0	C	47272125	T	C	47272125	3	2	11	1	0	0	0	0	1	0	0	0	17795	1841	64	4	667	4	ZNF157	23	47272125	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		47272125	107998435	21	204											
GLA	2717	broad.mit.edu	37	chrX	100653465	100653465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgatgtgtcggaggtcatTagacatgaataaaggagcag	13	9	14	5	1	1	3	1	2	0	1	2	5	1	5	0	3	1	2	0	3	4	2			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:100653465T>C	ENST00000218516.3	-	6	913	c.892A>G	c.(892-894)Aat>Gat	p.N298D	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	298			N -> H (in FD).|N -> K (in FD).|N -> S (in FD).		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	extracellular region|Golgi apparatus|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)	CGGAGGTCATTAGACATGAAT	0.493													73	12					0	0	1	0	0	C	100653465	T	C	100653465	3	2	11	1	0	0	0	0	1	0	0	0	6468	1754	61	4	405	4	GLA	23	100653465	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08	53381340	100653465	54617095	22	205											
FCGR2A	2212	broad.mit.edu	37	chr1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacataggctacacgctgtTctcatccaagcctgtgacca	12	9	7	13	1	1	1	1	1	1	0	3	1	2	1	3	1	3	3	3	1	4	3	rs141094947		TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	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)	TACACGCTGTTCTCATCCAAG	0.527													4	72					0	0	1	0	0	A	161479832	T	A	161479832	3	1	12	1	0	0	0	0	1	0	0	0	5814	1783	62	5	601	5	FCGR2A	1	161479832	Missense_Mutation	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08		161479832	87770789	1	206											
DNAH1	25981	broad.mit.edu	37	chr3	52393383	52393384	+	Frame_Shift_Ins	INS	-	-	C																															aacctcagaagccaactgttINScccccagctctgccagcagg																										TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:52393383_52393384insC	ENST00000420323.2	+	26	4649_4650	c.4388_4389insC	c.(4387-4392)ttccccfs	p.FP1463fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	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)		AGCCAACTGTTCCCCCAGCTCT	0.639													2	4	---	---	---	---						C	52393384	-	C	52393383	7	5	12	1	0	1	1	0	0	0	0	0	4625	1783	62	0	4486	0	DNAH1	3	52393383	Frame_Shift_Ins	INS	-	TCGA-V4-A9EF-01A-21D-A39W-08		52393383	145629047	2	207											
BAP1	8314	broad.mit.edu	37	chr3	52440383	52440383	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggttgaagcggatgtcgtgGtagggctccctgcagtcaca	8	9	15	9	2	1	1	1	1	0	0	3	2	2	2	1	4	2	4	1	4	2	2			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:52440383G>C	ENST00000460680.1	-	9	1140	c.669C>G	c.(667-669)taC>taG	p.Y223*	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	223					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		GGATGTCGTGGTAGGGCTCCC	0.627			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							29	1					0	0	1	0	0	C	52440383	G	C	52440383	4	2	12	1	0	0	0	0	0	1	0	0	1309	1256	44	5	1556	5	BAP1	3	52440383	Nonsense_Mutation	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08	47000	52440383	145582047	3	208											
GOLGB1	2804	broad.mit.edu	37	chr3	121438591	121438591	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgggcatctttctctcGgaccacctgctgcatggaac	9	9	10	13	2	2	0	0	0	2	0	4	2	2	2	2	3	4	3	2	3	2	1			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:121438591G>T	ENST00000393667.3	-	7	783	c.673C>A	c.(673-675)Cga>Aga	p.R225R	GOLGB1_ENST00000340645.5_Silent_p.R220R	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	220					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)		TCTTTCTCTCGGACCACCTGC	0.438													3	37					1	1	1	1	0	T	121438591	G	T	121438591	2	4	12	1	0	0	0	0	0	0	0	1	6604	1124	39	5		5	GOLGB1	3	121438591	Silent	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08	68998208	121438591	76583839	4	209											
FAM81B	153643	broad.mit.edu	37	chr5	94764367	94764367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttattcaggcaagagcaccgGcaaattgagaaagccattca	15	8	9	9	1	2	2	2	1	0	2	2	3	2	2	2	2	2	3	2	2	4	4			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr5:94764367G>A	ENST00000283357.5	+	6	763	c.717G>A	c.(715-717)cgG>cgA	p.R239R		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	239			R -> Q (in dbSNP:rs1541797).							central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAGAGCACCGGCAAATTGAGA	0.413													4	145					0	0	1	0	0	A	94764367	G	A	94764367	2	1	12	1	0	0	0	0	0	0	0	1	5661	1190	42	2		2	FAM81B	5	94764367	Silent	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08		94764367	86150893	5	210											
MMD2	221938	broad.mit.edu	37	chr7	4998636	4998636	+	Frame_Shift_Del	DEL	G	G	-																															cttctggaaatccagcagccGgggggcgaacatcgcggcgc																										TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr7:4998636delG	ENST00000404774.3	-	1	207	c.13delC	c.(13-15)cggfs	p.R5fs	MMD2_ENST00000401401.3_Frame_Shift_Del_p.R5fs|MMD2_ENST00000406755.1_Frame_Shift_Del_p.R5fs	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	5						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)		TCCAGCAGCCGGGGGGCGAAC	0.751													2	4	---	---	---	---						-	4998636	G	-	4998636	7	5	12	1	0	1	0	1	0	0	0	0	9692	1115	39	0	827	0	MMD2	7	4998636	Frame_Shift_Del	DEL	G	TCGA-V4-A9EF-01A-21D-A39W-08		4998636	154140027	6	211											
ALOX5	240	broad.mit.edu	37	chr10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccatggcccgattccGcaagaacctcgaggccattg	10	6	12	13	3	0	1	0	0	0	1	2	4	1	2	5	3	2	1	5	3	3	2			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532													4	102					0	0	1	0	0	A	45941026	G	A	45941026	3	1	12	1	0	0	0	0	1	0	0	0	536	1087	38	1	1970	1	ALOX5	10	45941026	Missense_Mutation	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08		45941026	89593721	7	212											
MYOF	26509	broad.mit.edu	37	chr10	95168603	95168603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtgtctggccacagaCgtgaactttgaccacaggcc	8	9	12	12	2	1	3	0	2	1	1	2	3	1	3	3	3	1	0	3	3	1	1			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr10:95168603C>T	ENST00000371501.4	-	7	792	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	MYOF_ENST00000359263.4_Missense_Mutation_p.V224I|MYOF_ENST00000371489.1_Missense_Mutation_p.V224I|MYOF_ENST00000358334.5_Missense_Mutation_p.V224I|MYOF_ENST00000371502.4_Missense_Mutation_p.V224I			Q9NZM1	MYOF_HUMAN	myoferlin	224	C2 2.|Necessary for interaction with EHD2.				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						TGGCCACAGACGTGAACTTTG	0.502													41	40					0	0	1	0	0	T	95168603	C	T	95168603	3	4	12	1	0	0	0	0	1	0	0	0	10137	536	19	1	5707	1	MYOF	10	95168603	Missense_Mutation	SNP	C	TCGA-V4-A9EF-01A-21D-A39W-08	49227577	95168603	40366144	8	213											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													8	40					0	0	1	0	0	G	61161357	T	G	61161357	5	3	12	1	0	0	0	0	0	0	1	0	16199	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08		61161357	73845159	9	214											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													6	59					0	0	1	0	0	G	77937662	T	G	77937662	2	3	12	1	0	0	0	0	0	0	0	1	6184	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08	16776305	77937662	57068854	10	215											
DCPS	28960	broad.mit.edu	37	chr11	126176602	126176602	+	Frame_Shift_Del	DEL	C	C	-																															cagttctccaatgatatctaCagcacctatcacttgttccc																										TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr11:126176602delC	ENST00000263579.4	+	2	668	c.339delC	c.(337-339)tacfs	p.Y113fs		NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	113					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			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)		ATGATATCTACAGCACCTATC	0.542													18	29	---	---	---	---						-	126176602	C	-	126176602	7	5	12	1	0	1	0	1	0	0	0	0	4324	489	17	0	345	0	DCPS	11	126176602	Frame_Shift_Del	DEL	C	TCGA-V4-A9EF-01A-21D-A39W-08	48238940	126176602	8829914	11	216											
C12orf71	728858	broad.mit.edu	37	chr12	27234201	27234201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctgaccgatggggacttTtggtggcattcacagggtga	7	11	16	7	1	1	2	1	2	0	0	1	4	1	3	1	5	1	2	1	5	0	3			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr12:27234201T>C	ENST00000429849.2	-	2	746	c.716A>G	c.(715-717)aAa>aGa	p.K239R		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	239										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ATGGGGACTTTTGGTGGCATT	0.527													29	41					0	0	1	0	0	C	27234201	T	C	27234201	3	2	12	1	0	0	0	0	1	0	0	0	1718	1841	64	4	97	4	C12orf71	12	27234201	Missense_Mutation	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08		27234201	106617694	12	217											
C12orf50	160419	broad.mit.edu	37	chr12	88391867	88391867	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttttaaaactaaaggAtggtggatgggtcgtgatat	12	15	12	2	1	0	1	0	1	0	0	1	3	0	3	0	4	1	1	0	4	6	6			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr12:88391867A>T	ENST00000298699.2	-	4	414	c.234T>A	c.(232-234)caT>caA	p.H78Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.H78Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	78										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAACTAAAGGATGGTGGATGG	0.358													13	24					0	0	1	0	0	T	88391867	A	T	88391867	3	4	12	1	0	0	0	0	1	0	0	0	1701	330	12	5	1050	5	C12orf50	12	88391867	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08	61157666	88391867	45460028	13	218											
TXNDC2	0	broad.mit.edu	37	chr18	9887527	9887527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccaagtccccagaagaaAccatccagcccaagaagggt	14	4	8	15	0	0	3	0	0	0	3	3	3	3	3	7	1	2	0	7	1	5	0	rs145411351	byFrequency	TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr18:9887527A>G	ENST00000357775.5	+	2	1085	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000306084.6_Missense_Mutation_p.T351A	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAGAAGAAACCATCCAGCC	0.572													5	94					0	0	1	0	0	G	9887527	A	G	9887527	3	3	12	1	0	0	0	0	1	0	0	0	16859	43	2	4	1057	4	TXNDC2	18	9887527	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08		9887527	68189721	14	219											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								26	26					0	0	1	0	0	T	3118942	A	T	3118942	3	4	12	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08		3118942	56010041	15	220											
OR7D4	125958	broad.mit.edu	37	chr19	9324820	9324820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctttgtacttgccctTggtggaggacattcccatta	9	13	10	9	0	0	0	0	0	0	0	1	2	1	2	2	4	2	2	2	4	3	6	rs145364350	by1000genomes	TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr19:9324820T>C	ENST00000308682.2	-	1	722	c.694A>G	c.(694-696)Aag>Gag	p.K232E		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TACTTGCCCTTGGTGGAGGAC	0.512													4	44					0	0	1	0	0	C	9324820	T	C	9324820	3	2	12	1	0	0	0	0	1	0	0	0	11267	1821	63	4	248	4	OR7D4	19	9324820	Missense_Mutation	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08	6205878	9324820	49804163	16	221											
USP25	29761	broad.mit.edu	37	chr21	17203904	17203904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatagaaatgccagtgcatActgtttaatgtacataaatg	15	14	7	5	0	0	1	0	0	0	1	0	1	0	1	1	0	4	3	1	0	8	7			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr21:17203904A>G	ENST00000285681.2	+	16	2318	c.1949A>G	c.(1948-1950)tAc>tGc	p.Y650C	USP25_ENST00000285679.6_Missense_Mutation_p.Y650C|USP25_ENST00000400183.2_Missense_Mutation_p.Y650C|USP25_ENST00000351097.5_Intron	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	650					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCCAGTGCATACTGTTTAATG	0.363													3	65					0	0	1	0	0	G	17203904	A	G	17203904	3	3	12	1	0	0	0	0	1	0	0	0	17116	391	14	4	2011	4	USP25	21	17203904	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08		17203904	30925991	17	222											
TRIM62	55223	broad.mit.edu	37	chr1	33612880	33612880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgccagggaacttctcGcggaaggtgtagagccagga	10	7	15	9	2	1	1	0	0	1	1	2	4	1	4	2	4	4	2	2	4	3	3			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:33612880G>A	ENST00000291416.5	-	5	1559	c.1326C>T	c.(1324-1326)cgC>cgT	p.R442R	TRIM62_ENST00000543586.1_Silent_p.R321R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	442	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAACTTCTCGCGGAAGGTGT	0.557													20	28					0	0	1	0	0	A	33612880	G	A	33612880	2	1	13	1	0	0	0	0	0	0	0	1	16598	1074	38	1		1	TRIM62	1	33612880	Silent	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		33612880	215637741	1	223											
DEDD	9191	broad.mit.edu	37	chr1	161092816	161092816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtcccagcagttctttaTattctccttcaagtctgctc	7	16	6	12	0	4	0	1	0	3	0	7	0	5	0	2	0	2	3	2	0	3	6			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:161092816T>C	ENST00000392188.1	-	5	863	c.629A>G	c.(628-630)tAt>tGt	p.Y210C	DEDD_ENST00000489249.1_Intron|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000458050.2_Intron|DEDD_ENST00000368006.3_Intron|DEDD_ENST00000545495.1_Intron|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.Y210C			O75618	DEDD_HUMAN	death effector domain containing	194					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGTTCTTTATATTCTCCTTC	0.478													40	40					0	0	1	0	0	C	161092816	T	C	161092816	3	2	13	1	0	0	0	0	1	0	0	0	4407	1421	49	4		4	DEDD	1	161092816	Missense_Mutation	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08	127479936	161092816	88157805	2	224											
NLRP3	114548	broad.mit.edu	37	chr1	247582115	247582115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagatggcaagcaccCgctgcaagctggccaggtac	12	5	13	11	1	0	3	0	1	0	2	0	3	0	3	2	3	4	6	2	3	4	1			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:247582115C>T	ENST00000366497.2	+	2	799	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	7	DAPIN.				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			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)			GGCAAGCACCCGCTGCAAGCT	0.527													8	23					0	0	1	0	0	T	247582115	C	T	247582115	3	4	13	1	0	0	0	0	1	0	0	0	10525	652	23	1	21	1	NLRP3	1	247582115	Missense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08	86489299	247582115	1668506	3	225											
FANCD2	2177	broad.mit.edu	37	chr3	10140562	10140562	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgttaattgttctaagTtggtggagcagaactttgcc	9	17	10	5	0	1	1	0	0	1	1	1	2	1	2	1	2	3	4	1	2	3	8			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr3:10140562T>C	ENST00000287647.3	+	43	4437	c.4344T>C	c.(4342-4344)agT>agC	p.S1448S	FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000419585.1_Intron|FANCD2OS_ENST00000524279.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1448					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)		TTGTTCTAAGTTGGTGGAGCA	0.423			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				28	38					0	0	1	0	0	C	10140562	T	C	10140562	2	2	13	1	0	0	0	0	0	0	0	1	5698	1722	60	4		4	FANCD2	3	10140562	Silent	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08		10140562	187881868	4	226											
CSMD3	114788	broad.mit.edu	37	chr8	114448977	114448977	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttttaatccccattttcTtcatcaggatgaagtctagg	10	15	6	10	0	4	1	2	1	2	0	5	2	5	2	2	2	0	0	2	2	3	6			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:114448977T>A	ENST00000297405.5	-	1	351	c.107A>T	c.(106-108)aAg>aTg	p.K36M	CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						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						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	122					0	0	1	0	0	A	114448977	T	A	114448977	3	1	13	1	0	0	0	0	1	0	0	0	3971	1609	56	5	11362	5	CSMD3	8	114448977	Missense_Mutation	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08		114448977	31915045	5	227											
WISP1	8840	broad.mit.edu	37	chr8	134239886	134239886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctgtaacctgagctGtaggaatcccaatgacatct	10	12	8	11	0	2	2	0	2	2	0	3	3	3	3	2	1	3	4	2	1	4	3			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:134239886G>A	ENST00000250160.6	+	5	1143	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y|WISP1_ENST00000517423.1_3'UTR	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	346	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			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)			AACCTGAGCTGTAGGAATCCC	0.493													20	44					0	0	1	0	0	A	134239886	G	A	134239886	3	1	13	1	0	0	0	0	1	0	0	0	17432	1377	48	3	1055	3	WISP1	8	134239886	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08	19790909	134239886	12124136	6	228											
PHRF1	57661	broad.mit.edu	37	chr11	609063	609063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctgtgagggaggcttccCcagcgccccttgcacagggg	5	6	17	13	1	0	1	0	1	0	0	1	2	1	2	4	5	2	3	4	5	0	2			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:609063C>T	ENST00000264555.5	+	14	3735	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1203							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						GGAGGCTTCCCCAGCGCCCCT	0.701													2	2					0	0	1	0	0	T	609063	C	T	609063	3	4	13	1	0	0	0	0	1	0	0	0	11909	623	22	3	3654	3	PHRF1	11	609063	Missense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08		609063	134397453	7	229											
ALDH2	217	broad.mit.edu	37	chr12	112230450	112230450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccctgttcttcaaccaggGccagtgctgctgtgccggct	4	10	12	15	2	2	0	1	0	1	0	2	0	2	0	4	2	4	4	4	2	1	2			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr12:112230450G>C	ENST00000261733.2	+	9	1008	c.947G>C	c.(946-948)gGc>gCc	p.G316A	ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	316					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TTCAACCAGGGCCAGTGCTGC	0.632			T	HMGA2	leiomyoma								6	9					0	0	1	0	0	C	112230450	G	C	112230450	3	2	13	1	0	0	0	0	1	0	0	0	493	1203	42	5	981	5	ALDH2	12	112230450	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		112230450	21621445	8	230											
SYNE2	23224	broad.mit.edu	37	chr14	64686021	64686022	+	Frame_Shift_Ins	INS	-	-	C																															gctgaactctgatatcagcgINSccatcactacttggctgaaa																								rs148199074	by1000genomes	TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr14:64686021_64686022insC	ENST00000357395.3	+	110	19983_19984	c.8839_8840insC	c.(8839-8841)gccfs	p.A2947fs	SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.A6562fs|SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.A6585S(1)		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)		TGATATCAGCGCCATCACTACT	0.426													21	30	---	---	---	---						C	64686022	-	C	64686021	7	5	13	1	0	1	1	0	0	0	0	0	15503	1087	38	0	20187	0	SYNE2	14	64686021	Frame_Shift_Ins	INS	-	TCGA-V4-A9EH-01A-11D-A39W-08		64686021	42663519	9	231											
SNX20	124460	broad.mit.edu	37	chr16	50707379	50707379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggggcgtgggcctccGgagctggctctcctccagcc	2	7	15	17	3	1	0	0	0	1	0	5	1	3	1	6	5	2	2	6	5	0	0			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr16:50707379G>A	ENST00000330943.4	-	4	1060	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					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						GTGGGCCTCCGGAGCTGGCTC	0.662													26	32					0	0	1	0	0	A	50707379	G	A	50707379	3	1	13	1	0	0	0	0	1	0	0	0	14946	1115	39	1	208	1	SNX20	16	50707379	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		50707379	39647374	10	232											
DNAH17	8632	broad.mit.edu	37	chr17	76570918	76570918	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaagtaaacccctttGgacttgagggactgggggaa	11	10	14	6	0	0	3	0	3	0	0	0	6	0	6	2	4	1	1	2	4	4	4			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:76570918G>T	ENST00000389840.5	-	2	346	c.222C>A	c.(220-222)tcC>tcA	p.S74S	DNAH17_ENST00000585328.1_Silent_p.S74S					dynein, axonemal, heavy chain 17											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)			AAACCCCTTTGGACTTGAGGG	0.567													3	45					0.115264	0.115264	1	1	0	T	76570918	G	T	76570918	2	4	13	1	0	0	0	0	0	0	0	1	4629	1335	47	5		5	DNAH17	17	76570918	Silent	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		76570918	4624292	11	233											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								22	18					0	0	1	0	0	T	3118942	A	T	3118942	3	4	13	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EH-01A-11D-A39W-08		3118942	56010041	12	234											
PPP5C	5536	broad.mit.edu	37	chr19	46893539	46893539	+	Splice_Site	DEL	A	A	-																															cccacctgccctggtcccacAgcctcatcccaacgtcaagc																										TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:46893539delA	ENST00000012443.4	+	13	1540		c.e13-1		PPP5C_ENST00000391919.1_Splice_Site	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit						mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTGGTCCCACAGCCTCATCCC	0.642													2	4	---	---	---	---						-	46893539	A	-	46893539	8	5	13	1	0	1	0	1	0	0	1	0	12455	202	7	0	1486	0	PPP5C	19	46893539	Splice_Site	DEL	A	TCGA-V4-A9EH-01A-11D-A39W-08	43774597	46893539	12235444	13	235											
PRG4	10216	broad.mit.edu	37	chr1	186276306	186276306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagagcctgcacccacTgcccccaagaagcctgcccc	10	3	7	21	0	0	2	0	0	0	2	0	2	0	2	8	0	5	1	8	0	3	0	rs78867190	byFrequency	TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:186276306T>C	ENST00000445192.2	+	7	1500	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	PRG4_ENST00000367486.3_Silent_p.T442T|PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T444T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	485	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T485T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACTGCCCCCAAGA	0.652													5	51					0	0	1	0	0	C	186276306	T	C	186276306	2	2	14	1	0	0	0	0	0	0	0	1	12533	1567	55	4		4	PRG4	1	186276306	Silent	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		186276306	62974315	1	236											
RYR2	6262	broad.mit.edu	37	chr1	237947564	237947564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgaaggcggagagaaagaGaagatggaactctttgtgaa	17	6	14	4	2	1	4	0	1	1	3	1	9	1	6	0	3	2	0	0	3	6	1			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E4190E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184					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)			GAGAGAAAGAGAAGATGGAAC	0.507													31	44					0	0	1	0	0	A	237947564	G	A	237947564	2	1	14	1	0	0	0	0	0	0	0	1	13821	933	33	3		3	RYR2	1	237947564	Silent	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	51671258	237947564	11303057	2	237											
NRXN1	9378	broad.mit.edu	37	chr2	51255230	51255230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgaggccgcgggcgctgCgagtcttgagctggaagctc	6	6	17	12	5	1	1	0	1	1	0	2	4	1	2	1	3	3	4	1	3	1	1			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:51255230C>T	ENST00000404971.1	-	2	1521	c.182G>A	c.(181-183)cGc>cAc	p.R61H	NRXN1_ENST00000406316.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	61	Laminin G-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)			GCGGGCGCTGCGAGTCTTGAG	0.672													11	16					0	0	1	0	0	T	51255230	C	T	51255230	3	4	14	1	0	0	0	0	1	0	0	0	10713	768	27	1	4816	1	NRXN1	2	51255230	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		51255230	191944143	3	238											
MYO7B	4648	broad.mit.edu	37	chr2	128324266	128324266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaacccgttccaggtgctgCcgctctacaccctggagcag	7	8	10	16	2	2	0	1	0	1	0	3	1	3	1	4	2	5	4	4	2	2	2			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:128324266C>T	ENST00000389524.4	+	5	387	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	MYO7B_ENST00000409816.2_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	112	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGTGCTGCCGCTCTACAC	0.607													3	12					0	0	1	0	0	T	128324266	C	T	128324266	3	4	14	1	0	0	0	0	1	0	0	0	10131	739	26	2	348	2	MYO7B	2	128324266	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	77069036	128324266	114875107	4	239											
THSD7B	80731	broad.mit.edu	37	chr2	138208465	138208465	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccatttgattgcaagttaAgcgattggtctagttggggg	8	13	14	6	1	1	1	0	1	1	0	1	2	1	1	1	3	2	3	1	3	3	6			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:138208465A>C	ENST00000409968.1	+	15	3188	c.3010A>C	c.(3010-3012)Agc>Cgc	p.S1004R	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R					thrombospondin, type I, domain containing 7B											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)		TTGCAAGTTAAGCGATTGGTC	0.388													5	29					0	0	1	0	0	C	138208465	A	C	138208465	3	2	14	1	0	0	0	0	1	0	0	0	15940	72	3	5	2971	5	THSD7B	2	138208465	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	9884199	138208465	104990908	5	240											
TTN	7273	broad.mit.edu	37	chr2	179437657	179437657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtccttcggaattcatgGcatagatgcggatcttatat	11	13	9	8	2	2	1	1	0	1	1	4	3	3	3	1	3	1	1	1	3	5	5			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:179437657G>A	ENST00000589042.1	-	326	73426	c.73202C>T	c.(73201-73203)gCc>gTc	p.A24401V	TTN_ENST00000460472.2_Missense_Mutation_p.A15336V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN_ENST00000591111.1_Missense_Mutation_p.A22760V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22760	Fibronectin type-III 77.						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)			GGAATTCATGGCATAGATGCG	0.488													3	36					0	0	1	0	0	A	179437657	G	A	179437657	3	1	14	1	0	0	0	0	1	0	0	0	16797	1203	42	2	34925	2	TTN	2	179437657	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	41229192	179437657	63761716	6	241											
BAP1	8314	broad.mit.edu	37	chr3	52436650	52436659	+	Frame_Shift_Del	DEL	ATGAACTCAT	ATGAACTCAT	-																															gcatggagataaaggtgcagAtgaactcatcgtagttgtgg																										TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436650_52436659delATGAACTCAT	ENST00000460680.1	-	16	2486_2495	c.2015_2024delATGAGTTCAT	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	672	Interaction with BRCA1.				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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D672G(1)		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)		AAAGGTGCAGATGAACTCATCGTAGTTGTG	0.562			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							23	8	---	---	---	---						-	52436659	ATGAACTCAT	-	52436650	7	5	14	1	0	1	0	1	0	0	0	0	1309	333	12	0	173	0	BAP1	3	52436650	Frame_Shift_Del	DEL	ATGAACTCAT	TCGA-V4-A9EI-01A-11D-A39W-08		52436650	145585780	7	242											
POLK	51426	broad.mit.edu	37	chr5	74892575	74892575	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttgtgagaagcaagattAtgaagcccatccaaaaatta	17	10	7	7	0	0	3	0	2	0	2	1	4	1	3	2	0	2	1	2	0	7	3			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:74892575A>C	ENST00000241436.4	+	13	2229	c.2057A>C	c.(2056-2058)tAt>tCt	p.Y686S	POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	686					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGCAAGATTATGAAGCCCAT	0.318								DNA polymerases (catalytic subunits)					7	18					0	0	1	0	0	C	74892575	A	C	74892575	3	2	14	1	0	0	0	0	1	0	0	0	12252	449	16	5	2103	5	POLK	5	74892575	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08		74892575	106022685	8	243											
CHD1	1105	broad.mit.edu	37	chr5	98239547	98239547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgctgctgctgCtgttgctgcttcttgaggat	2	19	13	7	0	1	1	0	1	1	0	1	2	1	2	0	1	6	10	0	1	0	6			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:98239547C>T	ENST00000284049.3	-	3	470	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	gctgctgctgctgttgctgct	0.393													4	27					0	0	1	0	0	T	98239547	C	T	98239547	2	4	14	1	0	0	0	0	0	0	0	1	3345	796	28	2		2	CHD1	5	98239547	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	23346972	98239547	82675713	9	244											
PCDHA9	0	broad.mit.edu	37	chr5	140228118	140228118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatccagagggtcagcCtctactgctctcgcttctga	8	10	11	12	1	4	3	1	1	3	2	6	4	5	3	2	2	3	2	2	2	1	2			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:140228118C>T	ENST00000378122.3	+	1	762	c.38C>T	c.(37-39)cCt>cTt	p.P13L	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P13L|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGTCAGCCTCTACTGCTC	0.507													49	4					0	0	1	0	0	T	140228118	C	T	140228118	3	4	14	1	0	0	0	0	1	0	0	0	11578	681	24	3	40	3	PCDHA9	5	140228118	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	41988571	140228118	40687142	10	245											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													4	35					0	0	1	0	0	G	77937662	T	G	77937662	2	3	14	1	0	0	0	0	0	0	0	1	6184	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		77937662	57068854	11	246											
DYNC2H1	79659	broad.mit.edu	37	chr11	103175411	103175411	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggctctgtttgaagaacTtacatcttgtggtatcttgg	8	16	10	7	0	3	2	0	1	3	1	3	2	3	2	0	3	2	3	0	3	4	5			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:103175411T>A	ENST00000375735.2	+	77	11488	c.11344T>A	c.(11344-11346)Tta>Ata	p.L3782I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3782	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|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)		TTTGAAGAACTTACATCTTGT	0.393													35	33					0	0	1	0	0	A	103175411	T	A	103175411	3	1	14	1	0	0	0	0	1	0	0	0	4872	1606	56	5	11675	5	DYNC2H1	11	103175411	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08	25237749	103175411	31831105	12	247											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													6	30					0	0	1	0	0	C	3649787	T	C	3649787	3	2	14	1	0	0	0	0	1	0	0	0	12594	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		3649787	130202108	13	248											
NACA	4666	broad.mit.edu	37	chr12	57113207	57113207	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcaattttctgaagctgTaggaaccaagggtaaagtag	14	9	13	5	0	1	1	0	1	1	0	1	2	1	2	1	3	2	5	1	3	8	5			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:57113207T>G	ENST00000454682.1	-	3	2388	c.2107A>C	c.(2107-2109)Aca>Cca	p.T703P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTGAAGCTGTAGGAACCAAG	0.493			T	BCL6	NHL								15	15					0	0	1	0	0	G	57113207	T	G	57113207	3	3	14	1	0	0	0	0	1	0	0	0	10181	1638	57	5	4157	5	NACA	12	57113207	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08	53463420	57113207	76738688	14	249											
UTP14C	9724	broad.mit.edu	37	chr13	52605146	52605146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccataaaagcagaggatGtgggctaccagtcttcctca	12	8	10	11	0	2	1	1	0	1	1	3	2	3	2	3	2	3	2	3	2	3	3			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:52605146G>T	ENST00000521776.2	+	2	2939	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	736					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)		AGCAGAGGATGTGGGCTACCA	0.478													49	56					1.61004e-24	1.65355e-24	1	1	0	T	52605146	G	T	52605146	3	4	14	1	0	0	0	0	1	0	0	0	17156	1377	48	5	2208	5	UTP14C	13	52605146	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		52605146	62564732	15	250											
PCCA	5095	broad.mit.edu	37	chr13	101020822	101020822	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaaacaatgggtcagtGttctcggtgagttttctttc	8	15	10	8	1	4	1	2	1	2	0	6	1	4	1	0	2	1	3	0	2	2	4			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:101020822G>A	ENST00000376285.1	+	19	1778	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PCCA_ENST00000376279.3_Silent_p.V580V|PCCA_ENST00000376286.4_Silent_p.V554V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	580					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)	ATGGGTCAGTGTTCTCGGTGA	0.358													36	43					0	0	1	0	0	A	101020822	G	A	101020822	2	1	14	1	0	0	0	0	0	0	0	1	11551	1364	48	3		3	PCCA	13	101020822	Silent	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	48415676	101020822	14149056	16	251											
OR4K1	79544	broad.mit.edu	37	chr14	20404381	20404381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccttcccttggtgataGagctggcttgcatggataca	8	12	12	9	0	0	3	0	2	0	1	1	4	1	4	2	3	3	3	2	3	2	5			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:20404381G>A	ENST00000285600.4	+	1	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGGTGATAGAGCTGGCTTG	0.443													47	46					0	0	1	0	0	A	20404381	G	A	20404381	3	1	14	1	0	0	0	0	1	0	0	0	11115	943	33	3	558	3	OR4K1	14	20404381	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		20404381	86945159	17	252											
NIN	51199	broad.mit.edu	37	chr14	51243678	51243678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttacctctccatccaCattctgtaaaccatactgct	10	12	5	14	0	2	0	0	0	2	0	4	1	3	0	4	1	4	3	4	1	4	4			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:51243678C>T	ENST00000245441.5	-	7	845	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382041.3_Missense_Mutation_p.V219M|NIN_ENST00000453196.1_Missense_Mutation_p.V219M	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	219	EF-hand 4.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP 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)					TCTCCATCCACATTCTGTAAA	0.463			T	PDGFRB	MPD								45	64					0	0	1	0	0	T	51243678	C	T	51243678	3	4	14	1	0	0	0	0	1	0	0	0	10464	478	17	3	5994	3	NIN	14	51243678	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	30839297	51243678	56105862	18	253											
BTBD7	55727	broad.mit.edu	37	chr14	93760636	93760636	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacatcataataacacaTgtaatcaaagagtccacgca	18	7	6	10	2	2	1	2	0	0	1	3	3	3	1	1	0	1	2	1	0	4	3			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:93760636T>G	ENST00000334746.5	-	3	1037	c.730A>C	c.(730-732)Atg>Ctg	p.M244L	BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	244										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)		TAATAACACATGTAATCAAAG	0.388													37	47					0	0	1	0	0	G	93760636	T	G	93760636	3	3	14	1	0	0	0	0	1	0	0	0	1549	1464	51	5	2779	5	BTBD7	14	93760636	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08	42516958	93760636	13588904	19	254											
DYNC1H1	1778	broad.mit.edu	37	chr14	102498624	102498624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagctgtgaagtcgatcaAgaagcagcacctggtggagg	11	7	14	9	1	2	2	2	1	0	1	3	4	2	3	1	3	3	3	1	3	3	0			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:102498624A>G	ENST00000360184.4	+	52	10063	c.9899A>G	c.(9898-9900)aAg>aGg	p.K3300R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3300	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|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						AAGTCGATCAAGAAGCAGCAC	0.572													74	203					0	0	1	0	0	G	102498624	A	G	102498624	3	3	14	1	0	0	0	0	1	0	0	0	4867	72	3	4	10105	4	DYNC1H1	14	102498624	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	8737988	102498624	4850916	20	255											
OR4M2	390538	broad.mit.edu	37	chr15	22368716	22368716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatatccttatcatttgCaccatcagtctagaccctca	12	12	5	12	0	4	1	3	0	1	1	5	2	5	2	3	1	1	1	3	1	4	4	rs148996699		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:22368716C>T	ENST00000332663.2	+	1	239	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		TTATCATTTGCACCATCAGTC	0.423													4	211					0	0	1	0	0	T	22368716	C	T	22368716	2	4	14	1	0	0	0	0	0	0	0	1	11124	718	25	2		2	OR4M2	15	22368716	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		22368716	80162676	21	256											
SNRPA1	6627	broad.mit.edu	37	chr15	101835317	101835317	+	Frame_Shift_Del	DEL	C	C	-																															ctcaccccggaggtccagctCccggtcgcgcaccgcgttgg																										TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:101835317delC	ENST00000254193.6	-	1	139	c.67delG	c.(67-69)gagfs	p.E23fs	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	23						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTCCAGCTCCCGGTCGCGC	0.711													2	4	---	---	---	---						-	101835317	C	-	101835317	7	5	14	1	0	1	0	1	0	0	0	0	14914	864	30	0	736	0	SNRPA1	15	101835317	Frame_Shift_Del	DEL	C	TCGA-V4-A9EI-01A-11D-A39W-08	79466601	101835317	696075	22	257											
PDXDC1	23042	broad.mit.edu	37	chr16	15102697	15102697	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtttggatcccagcAtcagatggtgagttctactt	8	14	10	9	0	2	2	1	1	1	1	3	3	3	3	1	2	2	3	1	2	1	4			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr16:15102697A>T	ENST00000396410.4	+	7	738	c.641A>T	c.(640-642)cAt>cTt	p.H214L	PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	214					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGATCCCAGCATCAGATGGTG	0.438													29	151					0	0	1	0	0	T	15102697	A	T	15102697	3	4	14	1	0	0	0	0	1	0	0	0	11743	217	8	5	667	5	PDXDC1	16	15102697	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08		15102697	75252056	23	258											
PER1	5187	broad.mit.edu	37	chr17	8044505	8044505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccgccttgggcctcctCgcagccctctccctcaccac	3	7	8	23	2	2	0	1	0	1	0	5	0	3	0	8	2	1	1	8	2	0	1			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:8044505C>T	ENST00000317276.4	-	23	3991	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1252	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTCCTCGCAGCCCTCT	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					59	14					0	0	1	0	0	T	8044505	C	T	8044505	3	4	14	1	0	0	0	0	1	0	0	0	11776	893	31	1	122	1	PER1	17	8044505	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		8044505	73150705	24	259											
MC2R	0	broad.mit.edu	37	chr18	13885229	13885229	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggctgtggtttcaaaacTgccacgtggcttgagatagc	9	11	12	9	2	1	1	1	1	0	1	2	2	1	1	1	3	3	3	1	3	3	3			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr18:13885229T>A	ENST00000327606.3	-	2	469	c.289A>T	c.(289-291)Agt>Tgt	p.S97C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	97					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTTTCAAAACTGCCACGTGGC	0.483													39	38					0	0	1	0	0	A	13885229	T	A	13885229	3	1	14	1	0	0	0	0	1	0	0	0	9414	1580	55	5	608	5	MC2R	18	13885229	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		13885229	64192019	25	260											
SBNO2	22904	broad.mit.edu	37	chr19	1119013	1119013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgcgcaggctcaccagCagggccgcgcggttgtagac	6	5	17	13	5	1	1	1	0	0	1	1	1	1	1	2	4	2	5	2	4	1	2			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:1119013C>T	ENST00000361757.3	-	14	1761	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	508					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GGCTCACCAGCAGGGCCGCGC	0.667													3	6					0	0	1	0	0	T	1119013	C	T	1119013	2	4	14	1	0	0	0	0	0	0	0	1	13916	697	25	2		2	SBNO2	19	1119013	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		1119013	58009970	26	261											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								18	27					0	0	1	0	0	T	3118942	A	T	3118942	3	4	14	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	1999929	3118942	56010041	27	262											
ZNF20	7568	broad.mit.edu	37	chr19	12244189	12244189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagaccttttatgtctaCgaatttcactaggaaaactg	12	14	8	7	1	2	1	1	1	1	1	2	4	2	2	1	1	2	0	1	1	6	5			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:12244189C>T	ENST00000334213.5	-	4	1036	c.812G>A	c.(811-813)cGt>cAt	p.R271H	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TTTATGTCTACGAATTTCACT	0.398													19	32					0	0	1	0	0	T	12244189	C	T	12244189	3	4	14	1	0	0	0	0	1	0	0	0	17819	536	19	1	790	1	ZNF20	19	12244189	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	9125247	12244189	46884794	28	263											
ANKRD27	84079	broad.mit.edu	37	chr19	33137370	33137370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcccagaatacctgaaCtctctctcttttccaaagga	10	14	4	13	0	3	2	0	1	3	1	7	3	4	3	3	1	2	0	3	1	4	4			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:33137370C>T	ENST00000306065.4	-	4	523	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	122					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)					AATACCTGAACTCTCTCTCTT	0.388													19	63					0	0	1	0	0	T	33137370	C	T	33137370	3	4	14	1	0	0	0	0	1	0	0	0	651	565	20	3	2891	3	ANKRD27	19	33137370	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	20893181	33137370	25991613	29	264											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								17	24					0	0	1	0	0	T	198267483	C	T	198267483	3	4	15	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		198267483	44931890	1	265											
SEL1L3	23231	broad.mit.edu	37	chr4	25836895	25836895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaacttcttgacaatgcCtgtgttttctccactggagg	7	13	11	10	1	2	1	0	1	2	0	3	3	2	3	2	3	2	1	2	3	2	4			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr4:25836895C>T	ENST00000399878.3	-	3	906	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G227S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G109S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	262						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTGACAATGCCTGTGTTTTCT	0.502													32	43					0	0	1	0	0	T	25836895	C	T	25836895	3	4	15	1	0	0	0	0	1	0	0	0	14066	681	24	3	2702	3	SEL1L3	4	25836895	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		25836895	165317381	2	266											
PDE8B	8622	broad.mit.edu	37	chr5	76607856	76607856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcgcatcgggcccatgaGactgacgcaggaccctattc	8	7	13	13	3	0	2	0	2	0	1	2	4	0	3	2	3	1	2	2	3	1	2			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr5:76607856G>A	ENST00000264917.5	+	2	422	c.377G>A	c.(376-378)aGa>aAa	p.R126K	PDE8B_ENST00000333194.4_Missense_Mutation_p.R126K|PDE8B_ENST00000346042.3_Missense_Mutation_p.R126K|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R126K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	126					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGGCCCATGAGACTGACGCAG	0.433													34	38					0	0	1	0	0	A	76607856	G	A	76607856	3	1	15	1	0	0	0	0	1	0	0	0	11701	942	33	3	383	3	PDE8B	5	76607856	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		76607856	104307404	3	267											
RASGRF2	5924	broad.mit.edu	37	chr5	80408455	80408455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtcttcataaagacgAcactgacatttgcttcagta	11	12	7	11	2	3	2	2	1	1	1	3	3	3	2	1	0	2	2	1	0	3	5			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr5:80408455A>G	ENST00000265080.4	+	14	1932	c.1865A>G	c.(1864-1866)gAc>gGc	p.D622G		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	622					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	protein binding|Rho guanyl-nucleotide exchange factor activity			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)		CATAAAGACGACACTGACATT	0.522													40	48					0	0	1	0	0	G	80408455	A	G	80408455	3	3	15	1	0	0	0	0	1	0	0	0	13125	275	10	4	1919	4	RASGRF2	5	80408455	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08	3800599	80408455	100506805	4	268											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093443	28093443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtggctgaggccagaatgCcacaccaaggagcagatttt	12	7	12	10	0	0	3	0	1	0	2	0	4	0	4	3	3	2	2	3	3	2	2			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr6:28093443C>T	ENST00000340487.4	+	2	371	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCCAGAATGCCACACCAAGG	0.547													4	215					0	0	1	0	0	T	28093443	C	T	28093443	2	4	15	1	0	0	0	0	0	0	0	1	18270	747	26	2		2	ZSCAN16	6	28093443	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		28093443	143021624	5	269											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362817	19362817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttccaccaactcatcccGcttgtccttcctcacaggct	6	11	6	18	1	2	0	2	0	0	0	6	0	6	0	5	2	1	3	5	2	1	3			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr8:19362817G>A	ENST00000454498.2	-	4	1542	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R177W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	177					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AACTCATCCCGCTTGTCCTTC	0.547													10	35					0	0	1	0	0	A	19362817	G	A	19362817	3	1	15	1	0	0	0	0	1	0	0	0	3963	1086	38	1	1097	1	CSGALNACT1	8	19362817	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		19362817	127001205	6	270											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412463	110412463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagacacatttgttgcaCgctttagtggatttttggtg	10	15	10	6	1	0	1	0	0	0	1	0	2	0	2	0	2	2	3	0	2	3	6			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr8:110412463C>T	ENST00000378402.5	+	13	1275	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	391					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)			ATTTGTTGCACGCTTTAGTGG	0.418										HNSCC(38;0.096)			57	218					0	0	1	0	0	T	110412463	C	T	110412463	3	4	15	1	0	0	0	0	1	0	0	0	12020	536	19	1	1221	1	PKHD1L1	8	110412463	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	91049646	110412463	35951559	7	271											
PIP4K2A	5305	broad.mit.edu	37	chr10	22898574	22898574	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaaggtgattgtccacctTtatttttgaataggctttga	12	16	8	5	0	0	3	0	3	0	0	1	3	1	3	2	2	0	1	2	2	5	7			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr10:22898574T>G	ENST00000376573.4	-	2	445	c.217A>C	c.(217-219)Aag>Cag	p.K73Q	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K14Q|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	73	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTGTCCACCTTTATTTTTGAA	0.348													34	28					0	0	1	0	0	G	22898574	T	G	22898574	3	3	15	1	0	0	0	0	1	0	0	0	11984	1850	64	5	1039	5	PIP4K2A	10	22898574	Missense_Mutation	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08		22898574	112636173	8	272											
MUC2	4583	broad.mit.edu	37	chr11	1101116	1101116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgtggaagacggcacCtacctcgccacggaggtcaa	10	5	12	14	4	1	1	1	0	0	1	2	3	1	3	3	4	2	1	3	4	3	1			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:1101116C>A	ENST00000441003.2	+	41	7542	c.7515C>A	c.(7513-7515)acC>acA	p.T2505T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4867						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)	AAGACGGCACCTACCTCGCCA	0.612													16	33					3.45872e-05	3.63609e-05	1	1	0	A	1101116	C	A	1101116	2	1	15	1	0	0	0	0	0	0	0	1	10023	668	24	5		5	MUC2	11	1101116	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		1101116	133905400	9	273											
TRPM5	29850	broad.mit.edu	37	chr11	2443545	2443545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactccgctcggcacccGtacaaactgcaaggcaggtc	9	5	11	16	3	0	0	0	0	0	0	3	0	1	0	3	4	3	5	3	4	3	1			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:2443545G>A	ENST00000452833.1	-	2	132	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	TRPM5_ENST00000155858.6_Missense_Mutation_p.R42W|TRPM5_ENST00000533060.1_Missense_Mutation_p.R42W|TRPM5_ENST00000528453.1_Missense_Mutation_p.R42W			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	42						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)		CTCGGCACCCGTACAAACTGC	0.672													3	35					0	0	1	0	0	A	2443545	G	A	2443545	3	1	15	1	0	0	0	0	1	0	0	0	16650	1144	40	1	3465	1	TRPM5	11	2443545	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	1342429	2443545	132562971	10	274											
DAK	26007	broad.mit.edu	37	chr11	61110817	61110817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactctggtattgcagaggGccgcggggtgaagattgccc	8	8	15	10	2	1	3	0	1	1	2	1	3	1	3	2	4	2	2	2	4	2	3			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:61110817G>A	ENST00000394900.3	+	11	1098	c.869G>A	c.(868-870)gGc>gAc	p.G290D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	290	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ATTGCAGAGGGCCGCGGGGTG	0.562													50	54					0	0	1	0	0	A	61110817	G	A	61110817	3	1	15	1	0	0	0	0	1	0	0	0	4252	1203	42	2	907	2	DAK	11	61110817	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	58667272	61110817	73895699	11	275											
PHLDB1	23187	broad.mit.edu	37	chr11	118499187	118499187	+	Missense_Mutation	SNP	G	G	A																															gtctgggctctcttactgggGcttcaccctgccagagtccc																										TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:118499187G>A	ENST00000361417.2	+	7	2059	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	550										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)		TCTTACTGGGGCTTCACCCTG	0.612													5	8					0	0	1	0	0	A	118499187	G	A	118499187	3	1	15	1	0	0	0	0	1	0	0	0	11899	1203	42	2	1666	2	PHLDB1	11	118499187	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	57388370	118499187	16507329	12	276	3	2									
PHLDB1	23187	broad.mit.edu	37	chr11	118499188	118499188	+	Missense_Mutation	SNP	C	C	T																															tctgggctctcttactggggCttcaccctgccagagtccct																										TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:118499188C>T	ENST00000361417.2	+	7	2060	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	550										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)		CTTACTGGGGCTTCACCCTGC	0.612													5	8					0	0	1	0	0	T	118499188	C	T	118499188	3	4	15	1	0	0	0	0	1	0	0	0	11899	797	28	2	1667	2	PHLDB1	11	118499188	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	1	118499188	16507328	13	277	3	2									
ACSM4	341392	broad.mit.edu	37	chr12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagtccagatcaaatcCgcggagaggtagatgaatgt	13	9	12	7	2	2	4	2	1	0	3	4	5	4	4	2	2	0	2	2	2	4	2			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr12:7477186C>T	ENST00000399422.4	+	11	1576	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	510					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AGATCAAATCCGCGGAGAGGT	0.438													15	29					0	0	1	0	0	T	7477186	C	T	7477186	3	4	15	1	0	0	0	0	1	0	0	0	186	652	23	1	1570	1	ACSM4	12	7477186	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		7477186	126374709	14	278											
GPR68	0	broad.mit.edu	37	chr14	91701320	91701320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacggtaacatagaccacCggggccagcgtctggtggat	10	6	14	11	3	1	1	0	0	1	1	1	2	1	2	3	5	3	2	3	5	2	2			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr14:91701320C>T	ENST00000535815.1	-	2	415	c.75G>A	c.(73-75)ccG>ccA	p.P25P	GPR68_ENST00000238699.3_Silent_p.P35P|GPR68_ENST00000531499.2_Silent_p.P25P	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	25					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CATAGACCACCGGGGCCAGCG	0.607													12	19					0	0	1	0	0	T	91701320	C	T	91701320	2	4	15	1	0	0	0	0	0	0	0	1	6747	639	23	1		1	GPR68	14	91701320	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		91701320	15648220	15	279											
PLCB2	5330	broad.mit.edu	37	chr15	40590425	40590425	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgcccagggtctcactTtgaagaagatgtctgtggtc	7	13	12	9	0	3	3	1	1	3	2	5	3	3	3	1	2	1	0	1	2	2	1			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr15:40590425T>C	ENST00000260402.3	-	11	1403	c.1154A>G	c.(1153-1155)aAa>aGa	p.K385R	PLCB2_ENST00000456256.2_Splice_Site_p.K385R|PLCB2_ENST00000557821.1_Splice_Site_p.K385R	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	385	PI-PLC X-box.				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)		GGGTCTCACTTTGAAGAAGAT	0.582													12	7					0	0	1	0	0	C	40590425	T	C	40590425	5	2	15	1	0	0	0	0	0	0	1	0	12076	1855	64	4	2491	4	PLCB2	15	40590425	Splice_Site	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08		40590425	61940967	16	280											
ARNT2	9915	broad.mit.edu	37	chr15	80762584	80762584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatagtgaaatcgaaaggCgcagacggaacaagatgact	17	6	11	7	3	1	4	1	2	0	2	2	6	1	5	0	2	1	1	0	2	5	1			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr15:80762584C>T	ENST00000533983.1	+	5	526	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Missense_Mutation_p.R74C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R63C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	74					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AATCGAAAGGCGCAGACGGAA	0.498													14	10					0	0	1	0	0	T	80762584	C	T	80762584	3	4	15	1	0	0	0	0	1	0	0	0	965	768	27	1	234	1	ARNT2	15	80762584	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	40172159	80762584	21768808	17	281											
CETP	1071	broad.mit.edu	37	chr16	56995983	56995983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcaggcatcgtgtgccGcatcaccaagcctgccctcc	7	6	11	17	3	1	0	1	0	0	0	3	1	2	0	5	2	3	3	5	2	1	0	rs147758502	byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:56995983G>A	ENST00000200676.3	+	1	222	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CETP_ENST00000379780.2_Missense_Mutation_p.R31H|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	31					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						ATCGTGTGCCGCATCACCAAG	0.612													3	38					0	0	1	0	0	A	56995983	G	A	56995983	3	1	15	1	0	0	0	0	1	0	0	0	3299	1087	38	1	94	1	CETP	16	56995983	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		56995983	33358770	18	282											
FAM65A	79567	broad.mit.edu	37	chr16	67575406	67575406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagaccaaggacctgtttgCcgccctgccccaggttgtgg	6	9	13	13	1	0	1	0	1	0	1	0	3	0	2	6	3	2	2	6	3	1	2			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:67575406C>T	ENST00000540839.3	+	12	1155	c.935C>T	c.(934-936)gCc>gTc	p.A312V	FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V|FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V|FAM65A_ENST00000379312.3_Missense_Mutation_p.A296V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	296						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GACCTGTTTGCCGCCCTGCCC	0.572													4	157					0	0	1	0	0	T	67575406	C	T	67575406	3	4	15	1	0	0	0	0	1	0	0	0	5634	739	26	2	913	2	FAM65A	16	67575406	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	10579423	67575406	22779347	19	283											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465361	77465361	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcttaagttctaagTgcagttcctgtccaaatgct	9	12	10	10	1	1	0	0	0	1	0	3	1	3	0	3	1	2	5	3	1	3	4			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:77465361T>G	ENST00000282849.5	-	3	744	c.326A>C	c.(325-327)cAc>cCc	p.H109P	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	109					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						AAGTTCTAAGTGCAGTTCCTG	0.483													66	66					0	0	1	0	0	G	77465361	T	G	77465361	3	3	15	1	0	0	0	0	1	0	0	0	262	1696	59	5	3423	5	ADAMTS18	16	77465361	Missense_Mutation	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08	9889955	77465361	12889392	20	284											
LSMD1	84316	broad.mit.edu	37	chr17	7760097	7760097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctctgcacctcaatggaAacgatgtggtgtccgggtac	8	10	11	12	2	2	0	1	0	1	0	4	2	4	1	3	3	3	2	3	3	3	1			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr17:7760097A>G	ENST00000333775.5	-	2	904	c.474T>C	c.(472-474)gtT>gtC	p.V158V	LSMD1_ENST00000576384.1_Silent_p.V68V|LSMD1_ENST00000576861.1_Silent_p.V84V|LSMD1_ENST00000335155.5_Silent_p.V110V|LSMD1_ENST00000575208.1_Silent_p.V58V|LSMD1_ENST00000575071.1_Silent_p.V68V|LSMD1_ENST00000575771.1_Silent_p.V58V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	110						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CCTCAATGGAAACGATGTGGT	0.562											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	35					0	0	1	0	0	G	7760097	A	G	7760097	2	3	15	1	0	0	0	0	0	0	0	1	9107	1	1	4		4	LSMD1	17	7760097	Silent	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08		7760097	73435113	21	285											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								24	24					0	0	1	0	0	T	3118942	A	T	3118942	3	4	15	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08		3118942	56010041	22	286											
TNFSF14	0	broad.mit.edu	37	chr19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcatccagcacacggaCgaccaccttctccccagcct	8	7	7	19	3	2	0	1	0	1	0	4	2	3	1	6	1	2	2	6	1	0	2			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:6665011C>T	ENST00000326176.9	-	5	922	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622													20	45					0	0	1	0	0	T	6665011	C	T	6665011	3	4	15	1	0	0	0	0	1	0	0	0	16367	536	19	1	77	1	TNFSF14	19	6665011	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	3546069	6665011	52463972	23	287											
ZNF599	148103	broad.mit.edu	37	chr19	35250775	35250775	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctttgcataaaaAgggtttttctcgagtgtgag	10	14	9	8	1	2	1	0	1	2	0	3	2	2	1	1	1	1	2	1	1	3	5			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:35250775A>C	ENST00000329285.8	-	4	1304	c.931T>G	c.(931-933)Ttt>Gtt	p.F311V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGCATAAAAAGGGTTTTTCT	0.418													29	52					0	0	1	0	0	C	35250775	A	C	35250775	3	2	15	1	0	0	0	0	1	0	0	0	18086	72	3	5	839	5	ZNF599	19	35250775	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08	28585764	35250775	23878208	24	288											
GPR112	139378	broad.mit.edu	37	chrX	135469898	135469898	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttggcttttcttggcaGattttcctaggcaatgtccc	5	19	8	9	0	1	1	0	0	1	1	3	1	3	1	2	3	0	3	2	3	2	9			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chrX:135469898G>T	ENST00000394143.1	+	16	8067		c.e16-1		GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						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)					TTTCTTGGCAGATTTTCCTAG	0.443													38	2					1.62957e-23	1.75822e-23	1	1	0	T	135469898	G	T	135469898	5	4	15	1	0	0	0	0	0	0	1	0	6669	956	33	5	7826	5	GPR112	23	135469898	Splice_Site	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		135469898	19800662	25	289											
AADACL4	343066	broad.mit.edu	37	chr1	12711307	12711307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcatcctccagacccCggcgaggcatcatcttctac	9	7	9	16	2	3	1	1	0	2	1	5	2	5	1	4	3	2	3	4	3	1	2			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:12711307C>T	ENST00000376221.1	+	2	334	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	112						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCCAGACCCCGGCGAGGCAT	0.572													14	25					0	0	1	0	0	T	12711307	C	T	12711307	3	4	16	1	0	0	0	0	1	0	0	0	13	643	23	1	340	1	AADACL4	1	12711307	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08		12711307	236539314	1	290											
RPTN	126638	broad.mit.edu	37	chr1	152128319	152128319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccctggccttgtcggTccatctgactgtagtgggaa	8	10	13	10	1	1	2	0	1	1	1	3	4	2	3	3	3	1	1	3	3	3	2			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:152128319T>C	ENST00000316073.3	-	3	1320	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	419	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						GCCTTGTCGGTCCATCTGACT	0.512													4	382					0	0	1	0	0	C	152128319	T	C	152128319	3	2	16	1	0	0	0	0	1	0	0	0	13716	1667	58	4	1102	4	RPTN	1	152128319	Missense_Mutation	SNP	T	TCGA-V4-A9EK-01A-11D-A39W-08	139417012	152128319	97122302	2	291											
USP34	9736	broad.mit.edu	37	chr2	61433951	61433951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgaaagaaatattgacagaAgttctactaaatctccagtc	16	10	6	9	1	2	3	0	1	2	2	4	4	2	3	2	0	1	1	2	0	7	5			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:61433951A>G	ENST00000398571.2	-	71	9066	c.8990T>C	c.(8989-8991)cTt>cCt	p.L2997P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2997					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		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)			TATTGACAGAAGTTCTACTAA	0.358													8	24					0	0	1	0	0	G	61433951	A	G	61433951	3	3	16	1	0	0	0	0	1	0	0	0	17125	72	3	4	1690	4	USP34	2	61433951	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		61433951	181765422	3	292											
ANKAR	150709	broad.mit.edu	37	chr2	190569815	190569815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacagtttgtctactgtgttCcaaagctgattacacgcttt	10	15	7	9	1	1	1	0	1	1	0	2	1	2	1	1	0	4	4	1	0	4	5			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569815C>G	ENST00000520309.1	+	8	1863	c.1775C>G	c.(1774-1776)tCc>tGc	p.S592C	ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	592						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)			CTACTGTGTTCCAAAGCTGAT	0.433													7	129					0	0	1	0	0	G	190569815	C	G	190569815	3	3	16	1	0	0	0	0	1	0	0	0	619	855	30	5	1801	5	ANKAR	2	190569815	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	129135864	190569815	52629558	4	293											
SPHKAP	80309	broad.mit.edu	37	chr2	228881555	228881555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcttgcgagggagagcCaccagaaacaggctcagtgt	10	7	13	11	1	2	2	1	0	1	2	2	4	2	2	2	2	4	2	2	2	1	1			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:228881555C>T	ENST00000392056.3	-	7	4061	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1339						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGGAGAGCCACCAGAAACA	0.512													20	81					0	0	1	0	0	T	228881555	C	T	228881555	3	4	16	1	0	0	0	0	1	0	0	0	15104	594	21	3	1111	3	SPHKAP	2	228881555	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	38311740	228881555	14317818	5	294											
ABCA13	154664	broad.mit.edu	37	chr7	48311887	48311887	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagttttaacttttcccAgttgttccattcagattggc	9	17	6	9	0	1	1	1	0	0	1	3	1	3	1	2	1	2	3	2	1	3	9			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:48311887A>T	ENST00000435803.1	+	17	2648	c.2624A>T	c.(2623-2625)cAg>cTg	p.Q875L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	875					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTTTTCCCAGTTGTTCCAT	0.313													31	50					0	0	1	0	0	T	48311887	A	T	48311887	3	4	16	1	0	0	0	0	1	0	0	0	31	188	7	5	2519	5	ABCA13	7	48311887	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		48311887	110826776	6	295											
PCLO	27445	broad.mit.edu	37	chr7	82585204	82585204	+	Frame_Shift_Del	DEL	T	T	-																															ttcgtcaaaatacaaacttgTttttttctgtgatgactctg																										TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:82585204delT	ENST00000333891.9	-	5	5402	c.5065delA	c.(5065-5067)acafs	p.T1689fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689fs*6(1)|p.T1620fs*6(1)		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						TACAAACTTGTTTTTTTCTGT	0.428													7	13	---	---	---	---						-	82585204	T	-	82585204	7	5	16	1	0	1	0	1	0	0	0	0	11630	1725	60	0	10464	0	PCLO	7	82585204	Frame_Shift_Del	DEL	T	TCGA-V4-A9EK-01A-11D-A39W-08	34273317	82585204	76553459	7	296											
COL14A1	7373	broad.mit.edu	37	chr8	121237427	121237427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgaaggacagtcagAgcctctgactggagttttta	11	12	11	7	0	2	4	1	3	1	1	2	6	2	6	1	2	1	1	1	2	3	4			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:121237427A>G	ENST00000297848.3	+	15	2108	c.1838A>G	c.(1837-1839)gAg>gGg	p.E613G	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	613	Fibronectin type-III 4.				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)			GGACAGTCAGAGCCTCTGACT	0.423													29	60					0	0	1	0	0	G	121237427	A	G	121237427	3	3	16	1	0	0	0	0	1	0	0	0	3694	304	11	4	1892	4	COL14A1	8	121237427	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		121237427	25126595	8	297											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								19	24					0	0	1	0	0	G	80409488	T	G	80409488	3	3	16	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EK-01A-11D-A39W-08		80409488	60803943	9	298											
DNM1	1759	broad.mit.edu	37	chr9	131008684	131008684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccacaggagaaagagaaGaaatacatgctgtctgtgga	16	6	11	8	0	1	3	0	0	1	3	1	6	1	4	1	2	2	1	1	2	4	1			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008684G>A	ENST00000341179.7	+	16	1775	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	DNM1_ENST00000372923.3_Silent_p.K561K|DNM1_ENST00000486160.1_Silent_p.K561K|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Silent_p.K561K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	561	PH.				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						AGAAAGAGAAGAAATACATGC	0.542													11	8					0	0	1	0	0	A	131008684	G	A	131008684	2	1	16	1	0	0	0	0	0	0	0	1	4697	933	33	3		3	DNM1	9	131008684	Silent	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08	50599196	131008684	10204747	10	299			1	2		2	2	92	G		4.115332e-05
DNM1	1759	broad.mit.edu	37	chr9	131008775	131008775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctttgccctctttaacacgGagcagaggtgcctgcctgcc	6	11	10	14	1	2	1	0	0	2	1	2	2	2	2	4	2	6	1	4	2	1	3			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008775G>A	ENST00000341179.7	+	16	1866	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	DNM1_ENST00000372923.3_Missense_Mutation_p.E592K|DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.E592K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	592	PH.				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						CTTTAACACGGAGCAGAGGTG	0.557													7	8					0	0	1	0	0	A	131008775	G	A	131008775	3	1	16	1	0	0	0	0	1	0	0	0	4697	1175	41	3	1831	3	DNM1	9	131008775	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08	91	131008775	10204656	11	300			1	2		2	2	92	G		4.115332e-05
CACNA1B	774	broad.mit.edu	37	chr9	141014734	141014736	+	In_Frame_Del	DEL	CAC	CAC	-																															cccctagccaggcgtcgtcgCaccaccaccaccaccgctgc																										TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:141014734_141014736delCAC	ENST00000277549.5	+	45	6299_6301	c.3730_3732delCAC	c.(3730-3732)cacdel	p.H1248del	CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del|CACNA1B_ENST00000371372.1_In_Frame_Del_p.H2054del			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2054					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.H2050delH(1)		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)	GGCGTCGTCGCACCACCACCACC	0.7													3	5	---	---	---	---						-	141014736	CAC	-	141014734	7	5	16	1	0	1	0	1	0	0	0	0	2557	710	25	0	6322	0	CACNA1B	9	141014734	In_Frame_Del	DEL	CAC	TCGA-V4-A9EK-01A-11D-A39W-08	10005959	141014734	198697	12	301											
PNLIP	5406	broad.mit.edu	37	chr10	118314738	118314738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcacacctgaattagtccGattggaccccagcgatgcca	10	7	11	13	2	0	1	0	1	0	0	1	4	1	2	5	2	2	1	5	2	2	2	rs149884015		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr10:118314738G>A	ENST00000369221.2	+	7	648	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	207					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.R207Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GAATTAGTCCGATTGGACCCC	0.483													21	38					0	0	1	0	0	A	118314738	G	A	118314738	3	1	16	1	0	0	0	0	1	0	0	0	12197	1058	37	1	642	1	PNLIP	10	118314738	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		118314738	17220009	13	302											
FTHL17	53940	broad.mit.edu	37	chrX	31089834	31089834	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatcgtgaaggcagatgtgGccaccgcgcaggttctgcag	9	8	14	10	3	1	2	0	1	1	1	2	2	1	2	2	3	1	4	2	3	2	2			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chrX:31089834G>T	ENST00000359202.3	-	1	336	c.237C>A	c.(235-237)ggC>ggA	p.G79G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	79	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						GGCAGATGTGGCCACCGCGCA	0.602													8	39					0.000157383	0.00017487	1	1	0	T	31089834	G	T	31089834	2	4	16	1	0	0	0	0	0	0	0	1	6118	1190	42	5		5	FTHL17	23	31089834	Silent	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		31089834	124180726	14	303											
WDR47	22911	broad.mit.edu	37	chr1	109553777	109553777	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gattgaggtcttctcattggGgatgatggatagggagagag	10	11	17	3	0	2	3	1	2	2	1	3	8	2	6	0	5	0	0	0	5	1	4			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr1:109553777G>C	ENST00000357672.3	-	4	1182	c.807C>G	c.(805-807)tcC>tcG	p.S269S	WDR47_ENST00000400794.3_Silent_p.S304S|WDR47_ENST00000369965.4_Silent_p.S297S|WDR47_ENST00000361054.3_Silent_p.S269S|WDR47_ENST00000369962.3_Silent_p.S297S			O94967	WDR47_HUMAN	WD repeat domain 47	297										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)		TTCTCATTGGGGATGATGGAT	0.428													127	204					0	0	1	0	0	C	109553777	G	C	109553777	2	2	17	1	0	0	0	0	0	0	0	1	17360	1219	43	5		5	WDR47	1	109553777	Silent	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		109553777	139696844	1	304											
LRP1B	53353	broad.mit.edu	37	chr2	141201962	141201962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attacatcttaagtttactgGgatacatttctggttcttgg	9	18	8	6	0	3	0	0	0	3	0	3	1	3	1	0	3	3	2	0	3	4	8			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr2:141201962G>A	ENST00000389484.3	-	65	11202	c.10231C>T	c.(10231-10233)Cca>Tca	p.P3411S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3411	LDL-receptor class A 23.				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)		AAGTTTACTGGGATACATTTC	0.393										TSP Lung(27;0.18)			58	79					0	0	1	0	0	A	141201962	G	A	141201962	3	1	17	1	0	0	0	0	1	0	0	0	9000	1232	43	3	3676	3	LRP1B	2	141201962	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		141201962	101997411	2	305											
LMLN	89782	broad.mit.edu	37	chr3	197710814	197710814	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaatgtctgttttgacagGccaatagcaggatatgctaa	12	13	9	7	0	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	5	6			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr3:197710814G>A	ENST00000330198.4	+	7	751	c.729G>A	c.(727-729)agG>agA	p.R243R	LMLN_ENST00000482695.1_Splice_Site_p.R191R|LMLN_ENST00000420910.2_Splice_Site_p.R243R|LMLN_ENST00000332636.5_Splice_Site_p.R191R	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	243					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)		GTTTTGACAGGCCAATAGCAG	0.368													3	56					0	0	1	0	0	A	197710814	G	A	197710814	5	1	17	1	0	0	0	0	0	0	1	0	8888	1217	42	2	755	2	LMLN	3	197710814	Splice_Site	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		197710814	311616	3	306											
NR3C2	0	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				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			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)	ggggtgggggtgggggtgggg	0.527													4	3					0	0	1	0	0	G	149075976	T	G	149075976	2	3	17	1	0	0	0	0	0	0	0	1	10679	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-V4-A9EL-01A-11D-A39W-08		149075976	42078300	4	307											
SYTL3	94120	broad.mit.edu	37	chr6	159181693	159181693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagaaatacgaagacagcGttcctcagagtaatggagag	15	6	13	7	3	1	4	1	0	0	4	2	7	2	4	1	2	2	2	1	2	4	3			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr6:159181693G>A	ENST00000297239.9	+	14	1524	c.1330G>A	c.(1330-1332)Gtt>Att	p.V444I	SYTL3_ENST00000360448.3_Missense_Mutation_p.V376I|SYTL3_ENST00000367081.3_Missense_Mutation_p.V170I			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	444					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)		CGAAGACAGCGTTCCTCAGAG	0.557													41	16					0	0	1	0	0	A	159181693	G	A	159181693	3	1	17	1	0	0	0	0	1	0	0	0	15541	1145	40	1	1164	1	SYTL3	6	159181693	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		159181693	11933374	5	308											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								46	63					0	0	1	0	0	A	80409488	T	A	80409488	3	1	17	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EL-01A-11D-A39W-08		80409488	60803943	6	309											
NUP188	23511	broad.mit.edu	37	chr9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgactctgtggtgcgtcGccagctctttcttgacgtgc	4	13	12	12	3	3	2	0	2	3	0	4	3	3	2	1	1	3	1	1	1	0	2			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr9:131760467G>A	ENST00000372577.2	+	31	3410	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGTGCGTCGCCAGCTCTTT	0.438													5	336					0	0	1	0	0	A	131760467	G	A	131760467	3	1	17	1	0	0	0	0	1	0	0	0	10806	1087	38	1	3511	1	NUP188	9	131760467	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08	51350979	131760467	9452964	7	310											
PITRM1	10531	broad.mit.edu	37	chr10	3191920	3191920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccattggtgggctgggcGcagtactgaacagggatatc	9	9	15	8	1	0	1	0	1	0	0	1	2	0	2	1	4	3	3	1	4	3	3			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr10:3191920G>A	ENST00000380989.2	-	16	1802	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Silent_p.C556C|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.C146C|PITRM1_ENST00000224949.4_Silent_p.C588C	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	556					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGGGCTGGGCGCAGTACTGAA	0.473													4	109					0	0	1	0	0	A	3191920	G	A	3191920	2	1	17	1	0	0	0	0	0	0	0	1	12001	1079	38	1		1	PITRM1	10	3191920	Silent	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		3191920	132342827	8	311											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-																															catagaagtcatccaaggtaCccccccatgagccatttcgg																										TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517													7	286	---	---	---	---						-	35513670	C	-	35513670	7	5	17	1	0	1	0	1	0	0	0	0	11460	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-V4-A9EL-01A-11D-A39W-08		35513670	99492846	9	312											
ACVRL1	94	broad.mit.edu	37	chr12	52309036	52309036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcagacatgacctcccGcaactcgagcacgcagctgt	9	6	9	17	4	1	2	1	1	0	1	3	3	2	2	3	0	3	4	3	0	1	0			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr12:52309036G>A	ENST00000550683.1	+	6	943	c.842G>A	c.(841-843)cGc>cAc	p.R281H	ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93H|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R267H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	267	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATGACCTCCCGCAACTCGAGC	0.617													3	22					0	0	1	0	0	A	52309036	G	A	52309036	3	1	17	1	0	0	0	0	1	0	0	0	224	1087	38	1	822	1	ACVRL1	12	52309036	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		52309036	81542859	10	313											
SERPINB4	6318	broad.mit.edu	37	chr18	61305232	61305232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattcccatggttctcaaCgtgtccttgaggtcatagct	8	13	8	12	1	2	1	2	1	1	0	5	1	4	1	3	2	2	2	3	2	2	4			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr18:61305232C>T	ENST00000341074.5	-	8	1009	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB4_ENST00000356424.6_Silent_p.T246T	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTTCTCAACGTGTCCTTGA	0.453													23	50					0	0	1	0	0	T	61305232	C	T	61305232	2	4	17	1	0	0	0	0	0	0	0	1	14157	523	19	1		1	SERPINB4	18	61305232	Silent	SNP	C	TCGA-V4-A9EL-01A-11D-A39W-08		61305232	16772016	11	314											
ZNF473	25888	broad.mit.edu	37	chr19	50549632	50549632	+	Frame_Shift_Del	DEL	C	C	-																															tccttccacacaaaggagcaCccttttaaatgtaacgaatg																										TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr19:50549632delC	ENST00000595661.1	+	6	2427	c.1932delC	c.(1930-1932)cacfs	p.H644fs	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Frame_Shift_Del_p.H644fs|ZNF473_ENST00000270617.3_Frame_Shift_Del_p.H644fs|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Frame_Shift_Del_p.H632fs			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	644					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAAAGGAGCACCCTTTTAAAT	0.453													25	47	---	---	---	---						-	50549632	C	-	50549632	7	5	17	1	0	1	0	1	0	0	0	0	17988	506	18	0	1946	0	ZNF473	19	50549632	Frame_Shift_Del	DEL	C	TCGA-V4-A9EL-01A-11D-A39W-08		50549632	8579351	12	315											
EWSR1	2130	broad.mit.edu	37	chr22	29674050	29674050	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaactgccccccaggcataCagccagcctgtccaggggta	9	5	10	17	0	0	0	0	0	0	0	1	0	1	0	7	3	5	2	7	3	3	2			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr22:29674050C>G	ENST00000397938.2	+	5	577	c.258C>G	c.(256-258)taC>taG	p.Y86*	EWSR1_ENST00000414183.2_Nonsense_Mutation_p.Y92*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000333395.6_Nonsense_Mutation_p.Y86*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	86	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCAGGCATACAGCCAGCCTG	0.527			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								11	9					0	0	1	0	0	G	29674050	C	G	29674050	4	3	17	1	0	0	0	0	0	1	0	0	5323	489	17	5	298	5	EWSR1	22	29674050	Nonsense_Mutation	SNP	C	TCGA-V4-A9EL-01A-11D-A39W-08		29674050	21630516	13	316											
HSPG2	3339	broad.mit.edu	37	chr1	22182161	22182161	+	Frame_Shift_Del	DEL	G	G	-																															ttcgcagggagctggccgccGgggccccctgacgagtagac																										TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:22182161delG	ENST00000374695.3	-	46	5788	c.5709delC	c.(5707-5709)cccfs	p.P1903fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1903	Ig-like C2-type 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGCCGCCGGGGCCCCCTG	0.667													2	4	---	---	---	---						-	22182161	G	-	22182161	7	5	18	1	0	1	0	1	0	0	0	0	7474	1103	39	0	7674	0	HSPG2	1	22182161	Frame_Shift_Del	DEL	G	TCGA-V4-A9EM-01A-11D-A39W-08		22182161	227068460	1	317											
E2F2	1870	broad.mit.edu	37	chr1	23857136	23857136	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgggaggcgccgtctgCgggtacagcggtgtgtagta	5	8	19	9	5	1	0	0	0	1	0	1	1	1	1	1	4	4	4	1	4	3	3			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:23857136C>T	ENST00000361729.2	-	1	576	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	50					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCGCCGTCTGCGGGTACAGCG	0.711													3	21					0	0	1	0	0	T	23857136	C	T	23857136	2	4	18	1	0	0	0	0	0	0	0	1	4893	755	27	1		1	E2F2	1	23857136	Silent	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08	1674975	23857136	225393485	2	318											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334298	77334298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcagcagcaggcgtc	13	1	13	14	1	0	0	0	0	0	0	1	0	0	0	0	1	11	10	0	1	1	0			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													4	42					0	0	1	0	0	A	77334298	G	A	77334298	2	1	18	1	0	0	0	0	0	0	0	1	15283	962	34	2		2	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	53477162	77334298	171916323	3	319											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206904072	206904072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagtatgacaagtcctGtgacatgtggtccctgggtg	10	10	14	7	0	0	3	0	2	0	1	2	4	2	3	2	2	0	1	2	2	3	1			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:206904072G>A	ENST00000367103.3	+	6	924	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.C244Y	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	244	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GACAAGTCCTGTGACATGTGG	0.577													66	44					0	0	1	0	0	A	206904072	G	A	206904072	3	1	18	1	0	0	0	0	1	0	0	0	9339	1377	48	3	753	3	MAPKAPK2	1	206904072	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	129569774	206904072	42346549	4	320											
HHAT	55733	broad.mit.edu	37	chr1	210536203	210536203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttggtcagaacacgaAgaggagctggaccaggaatt	12	11	12	6	1	1	2	1	0	0	2	1	6	1	5	1	4	2	1	1	4	3	4			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:210536203A>T	ENST00000367010.1	+	3	326	c.99A>T	c.(97-99)gaA>gaT	p.E33D	HHAT_ENST00000537898.1_Missense_Mutation_p.E33D|HHAT_ENST00000261458.3_Missense_Mutation_p.E33D|HHAT_ENST00000391905.3_Missense_Mutation_p.E33D|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Missense_Mutation_p.E33D|HHAT_ENST00000413764.2_Missense_Mutation_p.E33D|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.E34D	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					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)		CAGAACACGAAGAGGAGCTGG	0.398													24	62					0	0	1	0	0	T	210536203	A	T	210536203	3	4	18	1	0	0	0	0	1	0	0	0	7130	69	3	5	203	5	HHAT	1	210536203	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08	3632131	210536203	38714418	5	321											
TTN	7273	broad.mit.edu	37	chr2	179413443	179413443	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgttgtatggatatcAgcccgaaggctaaggttaga	12	11	12	6	1	2	1	1	0	1	1	2	4	2	2	1	3	1	4	1	3	6	5			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr2:179413443A>C	ENST00000589042.1	-	339	93134	c.92910T>G	c.(92908-92910)gcT>gcG	p.A30970A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A22097A|TTN_ENST00000591111.1_Silent_p.A29329A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28402A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A22030A|TTN_ENST00000460472.2_Silent_p.A21905A|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29329	Fibronectin type-III 126.						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)			TATGGATATCAGCCCGAAGGC	0.473													4	72					0	0	1	0	0	C	179413443	A	C	179413443	2	2	18	1	0	0	0	0	0	0	0	1	16797	175	7	5		5	TTN	2	179413443	Silent	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		179413443	63785930	6	322											
EIF1B	10289	broad.mit.edu	37	chr3	40352412	40352412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgcaactaagggtgaCgacttactcccggcagggac	10	7	13	11	2	0	2	0	2	0	0	1	4	1	3	1	3	3	3	1	3	3	2			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr3:40352412C>G	ENST00000232905.3	+	2	318	c.60C>G	c.(58-60)gaC>gaG	p.D20E		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	20					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTAAGGGTGACGACTTACTCC	0.388													19	38					0	0	1	0	0	G	40352412	C	G	40352412	3	3	18	1	0	0	0	0	1	0	0	0	5020	535	19	5	66	5	EIF1B	3	40352412	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		40352412	157670018	7	323											
SETD2	29072	broad.mit.edu	37	chr3	47103828	47103828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagcatcccttcctcGttcagttgctaagggaaaag	11	9	9	12	1	1	0	1	0	0	0	4	1	3	1	3	1	3	4	3	1	4	4			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr3:47103828G>A	ENST00000409792.3	-	14	6160	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			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)		TCCCTTCCTCGTTCAGTTGCT	0.388			"N, F, S, Mis"		clear cell renal carcinoma								81	100					0	0	1	0	0	A	47103828	G	A	47103828	4	1	18	1	0	0	0	0	0	1	0	0	14185	1153	40	1	1608	1	SETD2	3	47103828	Nonsense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	6751416	47103828	150918602	8	324											
COL25A1	84570	broad.mit.edu	37	chr4	109822282	109822282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tatttgtactaaccttaggtCctggtattccattctgtcct	7	18	6	10	0	1	0	0	0	1	0	4	0	4	0	4	2	2	2	4	2	5	8			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr4:109822282C>G	ENST00000399132.1	-	14	1357	c.827G>C	c.(826-828)gGa>gCa	p.G276A	COL25A1_ENST00000399127.1_Missense_Mutation_p.G272A|COL25A1_ENST00000399126.1_Missense_Mutation_p.G276A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	276	Collagen-like 3.					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)		AACCTTAGGTCCTGGTATTCC	0.348													14	27					0	0	1	0	0	G	109822282	C	G	109822282	3	3	18	1	0	0	0	0	1	0	0	0	3707	855	30	5	1321	5	COL25A1	4	109822282	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		109822282	81331994	9	325											
MARCH6	10299	broad.mit.edu	37	chr5	10426521	10426521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttacgcaaatggcatccGgaacattgaccttcactata	12	11	8	10	2	1	1	1	1	0	0	2	2	2	2	2	3	2	3	2	3	5	6			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr5:10426521G>A	ENST00000274140.5	+	24	2525	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	MARCH6_ENST00000510792.1_Missense_Mutation_p.R496Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.R693Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.R750Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	798					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						AATGGCATCCGGAACATTGAC	0.408													60	110					0	0	1	0	0	A	10426521	G	A	10426521	3	1	18	1	0	0	0	0	1	0	0	0	9355	1116	39	1	2487	1	MARCH6	5	10426521	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		10426521	170488739	10	326											
RSPH4A	345895	broad.mit.edu	37	chr6	116944015	116944015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctttgaaaatattagccaAgatgtgaagatggcacattt	15	13	8	5	0	1	4	0	2	1	2	1	4	1	4	1	1	1	1	1	1	6	4			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr6:116944015A>G	ENST00000229554.5	+	2	908	c.771A>G	c.(769-771)caA>caG	p.Q257Q	RSPH4A_ENST00000368581.4_Silent_p.Q257Q|RSPH4A_ENST00000368580.4_Silent_p.Q257Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	257					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATATTAGCCAAGATGTGAAGA	0.323									Kartagener syndrome				64	163					0	0	1	0	0	G	116944015	A	G	116944015	2	3	18	1	0	0	0	0	0	0	0	1	13758	69	3	4		4	RSPH4A	6	116944015	Silent	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		116944015	54171052	11	327											
NBN	4683	broad.mit.edu	37	chr8	90982757	90982757	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctagcttccccacctccaAagacaactgcggaactcaat	13	7	5	16	1	1	1	1	0	0	1	3	2	3	2	5	1	4	1	5	1	5	2			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr8:90982757A>G	ENST00000265433.3	-	7	885	c.731T>C	c.(730-732)tTt>tCt	p.F244S	NBN_ENST00000409330.1_Missense_Mutation_p.F162S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	244					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|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)			CCCACCTCCAAAGACAACTGC	0.343								Homologous recombination					21	93					0	0	1	0	0	G	90982757	A	G	90982757	3	3	18	1	0	0	0	0	1	0	0	0	10239	14	1	4	1573	4	NBN	8	90982757	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		90982757	55381265	12	328											
KCNS2	3788	broad.mit.edu	37	chr8	99440584	99440584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctacagctaccatggccGcaaagtagagcccgagcagg	12	4	12	13	2	0	1	0	0	0	1	0	2	0	1	3	2	6	5	3	2	4	3			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr8:99440584G>A	ENST00000287042.4	+	2	727	c.377G>A	c.(376-378)cGc>cAc	p.R126H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R126H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	126						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R126H(1)		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)			TACCATGGCCGCAAAGTAGAG	0.552													4	104					0	0	1	0	0	A	99440584	G	A	99440584	3	1	18	1	0	0	0	0	1	0	0	0	8133	1087	38	1	379	1	KCNS2	8	99440584	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	8457827	99440584	46923438	13	329											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								50	39					0	0	1	0	0	A	80409488	T	A	80409488	3	1	18	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EM-01A-11D-A39W-08		80409488	60803943	14	330											
NLRP14	338323	broad.mit.edu	37	chr11	7059980	7059980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtgaagaaggccaggCgggaggacctggccaatttg	12	6	16	7	1	0	3	0	2	0	1	0	5	0	5	3	5	0	0	3	5	4	1	rs146049510	byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr11:7059980C>T	ENST00000299481.4	+	2	509	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	55	DAPIN.		R -> E (requires 2 nucleotide substitutions).		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)		GAAGGCCAGGCGGGAGGACCT	0.448													12	22					0	0	1	0	0	T	7059980	C	T	7059980	3	4	18	1	0	0	0	0	1	0	0	0	10523	759	27	1	165	1	NLRP14	11	7059980	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		7059980	127946536	15	331											
VWF	7450	broad.mit.edu	37	chr12	6128239	6128239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaacgatctcgtccctttGctgctccagctcatccacac	7	11	6	17	2	2	0	1	0	1	0	6	1	5	0	3	0	4	4	3	0	1	2			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr12:6128239G>C	ENST00000261405.5	-	28	4599	c.4345C>G	c.(4345-4347)Caa>Gaa	p.Q1449E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1449	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			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)	TCGTCCCTTTGCTGCTCCAGC	0.612													22	31					0	0	1	0	0	C	6128239	G	C	6128239	3	2	18	1	0	0	0	0	1	0	0	0	17306	1328	46	5	4196	5	VWF	12	6128239	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		6128239	127723656	16	332											
ARHGAP17	55114	broad.mit.edu	37	chr16	24946929	24946929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccctggtgctggcacagCtgcagatacagggtccttcg	6	10	12	13	1	1	1	0	0	1	1	4	1	2	1	2	3	4	4	2	3	1	2			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:24946929C>G	ENST00000289968.6	-	18	1825	c.1756G>C	c.(1756-1758)Gct>Cct	p.A586P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A508P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	586	Pro-rich.				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)		GCTGGCACAGCTGCAGATACA	0.517													20	25					0	0	1	0	0	G	24946929	C	G	24946929	3	3	18	1	0	0	0	0	1	0	0	0	864	797	28	5	901	5	ARHGAP17	16	24946929	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		24946929	65407824	17	333											
ACD	65057	broad.mit.edu	37	chr16	67692869	67692869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcccagtgggtgacagGgggtgctgtgcaagggccct	6	6	19	10	0	0	1	0	1	0	0	0	1	0	1	2	5	3	3	2	5	1	0			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:67692869G>C	ENST00000219251.8	-	7	1187	c.856C>G	c.(856-858)Cct>Gct	p.P286A	ACD_ENST00000393919.4_Missense_Mutation_p.P289A	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	289	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)		TGGGTGACAGGGGGTGCTGTG	0.612													39	51					0	0	1	0	0	C	67692869	G	C	67692869	3	2	18	1	0	0	0	0	1	0	0	0	135	1232	43	5	793	5	ACD	16	67692869	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	42745940	67692869	22661884	18	334											
PKD1L2	114780	broad.mit.edu	37	chr16	81253526	81253527	+	RNA	INS	-	-	TTATT																															tgctaggcattagacatgaaINSttatttaatccacaacacaa																								rs140827348	by1000genomes	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:81253526_81253527insTTATT	ENST00000337114.4	-	0	301				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						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						ttagacatgaattatttaatcc	0.391													3	3	---	---	---	---						TTATT	81253527	-	TTATT	81253526	6	5	18	0	1	1	1	0	0	0	0	0	12013	116	4	0		0	PKD1L2	16	81253526	RNA	INS	-	TCGA-V4-A9EM-01A-11D-A39W-08	13560657	81253526	9101227	19	335											
OR3A1	4994	broad.mit.edu	37	chr17	3195504	3195504	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagatggccaggaatcGgtcataggccatggcggtca	9	6	15	11	3	2	1	2	0	0	1	3	2	2	2	3	7	0	1	3	7	2	1			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr17:3195504G>A	ENST00000323404.1	-	1	372	c.373C>T	c.(373-375)Cga>Tga	p.R125*	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	125			R -> Q (in dbSNP:rs703903).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCCAGGAATCGGTCATAGGCC	0.592													3	59					0	0	1	0	0	A	3195504	G	A	3195504	4	1	18	1	0	0	0	0	0	1	0	0	11085	1124	39	1	578	1	OR3A1	17	3195504	Nonsense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		3195504	77999706	20	336											
MAP1S	55201	broad.mit.edu	37	chr19	17835950	17835951	+	Frame_Shift_Del	DEL	AG	AG	-																															ggggagctgctgctacagacAgggggcttctcgcctcacca																								rs138091544		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:17835950_17835951delAG	ENST00000324096.4	+	4	547_548	c.396_397delAG	c.(394-399)acagggfs	p.G134fs	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.G108fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	134	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.G133W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCTACAGACAGGGGGCTTCTC	0.619													21	92	---	---	---	---						-	17835951	AG	-	17835950	7	5	18	1	0	1	0	1	0	0	0	0	9284	175	7	0	410	0	MAP1S	19	17835950	Frame_Shift_Del	DEL	AG	TCGA-V4-A9EM-01A-11D-A39W-08		17835950	41293033	21	337											
RHPN2	85415	broad.mit.edu	37	chr19	33517480	33517480	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcatctgcaggtctgAgttgacgaagctcagctcca	9	10	11	11	1	3	3	1	3	2	0	4	4	4	3	1	1	4	5	1	1	1	2			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:33517480A>T	ENST00000254260.3	-	3	279	c.244T>A	c.(244-246)Tca>Aca	p.S82T	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	82					signal transduction	perinuclear region of cytoplasm	protein binding			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)					TGCAGGTCTGAGTTGACGAAG	0.552													76	100					0	0	1	0	0	T	33517480	A	T	33517480	3	4	18	1	0	0	0	0	1	0	0	0	13401	304	11	5	1868	5	RHPN2	19	33517480	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08	15681530	33517480	25611503	22	338											
MYBPC2	4606	broad.mit.edu	37	chr19	50939080	50939080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaggagcccaccggcGttttcctgaagaagccggac	9	6	13	13	3	0	3	0	1	0	2	1	5	1	5	4	3	3	2	4	3	2	2			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:50939080G>C	ENST00000357701.5	+	3	208	c.157G>C	c.(157-159)Gtt>Ctt	p.V53L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	53	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.V53I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCACCGGCGTTTTCCTGAA	0.662													8	6					0	0	1	0	0	C	50939080	G	C	50939080	3	2	18	1	0	0	0	0	1	0	0	0	10060	1145	40	5	167	5	MYBPC2	19	50939080	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	17421600	50939080	8189903	23	339											
F5	2153	broad.mit.edu	37	chr1	169509628	169509628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcggaggtaccatgctgcaAtgttgtcaggatctctggag	8	11	14	8	1	2	0	1	0	1	0	3	3	2	3	1	4	4	4	1	4	2	2			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr1:169509628A>G	ENST00000367796.3	-	13	4916	c.4715T>C	c.(4714-4716)aTt>aCt	p.I1572T	F5_ENST00000367797.3_Missense_Mutation_p.I1567T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1567	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCATGCTGCAATGTTGTCAGG	0.393													35	23					0	0	1	0	0	G	169509628	A	G	169509628	3	3	19	1	0	0	0	0	1	0	0	0	5376	101	4	4	2026	4	F5	1	169509628	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08		169509628	79740993	1	340											
POU3F3	5455	broad.mit.edu	37	chr2	105472295	105472295	+	Silent	SNP	C	C	T																															cacgccgccgccgccgccgcCgctgccgccgccgccgccgt																										TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472295C>T	ENST00000361360.2	+	1	327	c.327C>T	c.(325-327)gcC>gcT	p.A109A	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	109	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgccgctgccgccg	0.781													3	0					0	0	1	0	0	T	105472295	C	T	105472295	2	4	19	1	0	0	0	0	0	0	0	1	12322	639	23	1		1	POU3F3	2	105472295	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		105472295	137727078	2	341	4	2									
POU3F3	5455	broad.mit.edu	37	chr2	105472298	105472298	+	Silent	SNP	T	T	C																															gccgccgccgccgccgccgcTgccgccgccgccgccgtgga																										TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472298T>C	ENST00000361360.2	+	1	330	c.330T>C	c.(328-330)gcT>gcC	p.A110A	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	110	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgctgccgccgccg	0.791													3	0					0	0	1	0	0	C	105472298	T	C	105472298	2	2	19	1	0	0	0	0	0	0	0	1	12322	1567	55	4		4	POU3F3	2	105472298	Silent	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	3	105472298	137727075	3	342	4	2									
XPC	7508	broad.mit.edu	37	chr3	14200132	14200132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgccgctcccggccatgCggacgtcgctgggttgcctt	3	8	13	17	6	0	0	0	0	0	0	2	1	1	1	5	3	2	3	5	3	0	2			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:14200132C>T	ENST00000285021.7	-	9	1465	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	XPC_ENST00000449060.2_Silent_p.P380P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	417	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGGCCATGCGGACGTCGCT	0.607			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	57					0	0	1	0	0	T	14200132	C	T	14200132	2	4	19	1	0	0	0	0	0	0	0	1	17501	755	27	1		1	XPC	3	14200132	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		14200132	183822298	4	343											
BAP1	8314	broad.mit.edu	37	chr3	52436620	52436620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgcatcccctcacctTcctgagccagcatggagata	10	7	9	15	1	1	2	1	1	0	1	3	3	3	2	5	1	4	3	5	1	1	2			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:52436620T>A	ENST00000460680.1	-	16	2525	c.2054A>T	c.(2053-2055)gAa>gTa	p.E685V	BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	685	Interaction with BRCA1.				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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E685V(1)|p.?(1)		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)		CCCCTCACCTTCCTGAGCCAG	0.552			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							38	1					0	0	1	0	0	A	52436620	T	A	52436620	3	1	19	1	0	0	0	0	1	0	0	0	1309	1783	62	5	143	5	BAP1	3	52436620	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	38236488	52436620	145585810	5	344											
SNX4	8723	broad.mit.edu	37	chr3	125223532	125223532	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatttcttccagttcgtttTtctgcttctgaaacactgat	7	18	6	10	1	3	2	0	2	3	0	5	2	4	2	1	0	2	4	1	0	1	6			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:125223532T>G	ENST00000251775.4	-	2	222	c.198A>C	c.(196-198)gaA>gaC	p.E66D	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	66	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAGTTCGTTTTTCTGCTTCTG	0.353													22	1					0	0	1	0	0	G	125223532	T	G	125223532	3	3	19	1	0	0	0	0	1	0	0	0	14958	1838	64	5	1206	5	SNX4	3	125223532	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	72786912	125223532	72798898	6	345											
JAKMIP1	152789	broad.mit.edu	37	chr4	6050593	6050593	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttctaccttttcacaCagggcaagcacagttccagc	9	10	8	14	0	2	0	1	0	1	0	3	0	3	0	2	2	3	4	2	2	2	5			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr4:6050593C>A	ENST00000409021.3	-	16	2468	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	JAKMIP1_ENST00000409371.3_Silent_p.L488L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	444					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTCACACAGGGCAAGCA	0.468													3	41					0.115264	0.128071	1	1	0	A	6050593	C	A	6050593	2	1	19	1	0	0	0	0	0	0	0	1	7984	465	17	5		5	JAKMIP1	4	6050593	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		6050593	185103683	7	346											
PREX2	80243	broad.mit.edu	37	chr8	69000029	69000029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttggcccttctgttgtgCatgctgtaggaagaggtagg	7	13	15	6	0	1	1	0	0	1	1	1	3	1	2	1	4	2	5	1	4	3	5			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:69000029C>T	ENST00000288368.4	+	19	2375	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	700	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTTGTGCATGCTGTAGG	0.453													45	109					0	0	1	0	0	T	69000029	C	T	69000029	3	4	19	1	0	0	0	0	1	0	0	0	12529	710	25	2	2172	2	PREX2	8	69000029	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		69000029	77363993	8	347											
KIAA0196	9897	broad.mit.edu	37	chr8	126094695	126094695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatataaaccccttcattgAgatcatctagatatctagaa	16	12	5	8	0	4	3	2	1	2	3	4	5	4	3	2	0	1	0	2	0	8	7			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:126094695A>G	ENST00000318410.7	-	4	696	c.347T>C	c.(346-348)cTc>cCc	p.L116P	KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	116					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	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)			CCCTTCATTGAGATCATCTAG	0.264													64	60					0	0	1	0	0	G	126094695	A	G	126094695	3	3	19	1	0	0	0	0	1	0	0	0	8203	304	11	4	3236	4	KIAA0196	8	126094695	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08	57094666	126094695	20269327	9	348											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								20	41					0	0	1	0	0	G	80409488	T	G	80409488	3	3	19	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08		80409488	60803943	10	349											
TBX5	6910	broad.mit.edu	37	chr12	114823293	114823293	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctacctttgcattcttGacattctgtgcagctccatg	6	17	6	12	0	2	1	0	1	2	0	4	1	4	1	3	0	4	3	3	0	1	6			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:114823293G>C	ENST00000310346.4	-	7	1409	c.743C>G	c.(742-744)tCa>tGa	p.S248*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	248					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)		TTGCATTCTTGACATTCTGTG	0.478													40	50					0	0	1	0	0	C	114823293	G	C	114823293	4	2	19	1	0	0	0	0	0	1	0	0	15721	1294	45	5	892	5	TBX5	12	114823293	Nonsense_Mutation	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08		114823293	19028602	11	350											
SALL1	6299	broad.mit.edu	37	chr16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgccgccgccgctgcTgctgctgctgctgctgctgc	0	9	14	18	4	0	0	0	0	0	0	0	0	0	0	4	0	9	9	4	0	0	0	rs139646526	byFrequency	TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:51175661T>C	ENST00000440970.1	-	2	612	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158					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 transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA 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)			ccgccgctgctgctgctgctg	0.632													3	36					0	0	1	0	0	C	51175661	T	C	51175661	3	2	19	1	0	0	0	0	1	0	0	0	13862	1580	55	4	3510	4	SALL1	16	51175661	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08		51175661	39179092	12	351											
KCTD19	146212	broad.mit.edu	37	chr16	67327540	67327540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggctctggccccttgtCtttcgctccagctccagccc	2	12	10	17	1	2	0	0	0	2	0	5	0	4	0	5	3	2	4	5	3	0	3			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:67327540C>T	ENST00000304372.5	-	12	2180	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	709						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCCCCTTGTCTTTCGCTCCA	0.597													27	65					0	0	1	0	0	T	67327540	C	T	67327540	3	4	19	1	0	0	0	0	1	0	0	0	8150	913	32	3	675	3	KCTD19	16	67327540	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08	16151879	67327540	23027213	13	352											
FANCA	2175	broad.mit.edu	37	chr16	89831391	89831391	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaaggaaggtgcaaGggtctccaggaaaggctggc	11	6	16	8	0	2	1	0	0	2	1	3	3	2	3	1	6	2	3	1	6	4	0			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:89831391G>C	ENST00000389301.3	-	28	2715	c.2685C>G	c.(2683-2685)ccC>ccG	p.P895P	FANCA_ENST00000568369.1_Silent_p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	895					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGTGCAAGGGTCTCCAGG	0.527			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	38					0	0	1	0	0	C	89831391	G	C	89831391	2	2	19	1	0	0	0	0	0	0	0	1	5695	987	35	5		5	FANCA	16	89831391	Silent	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08	22503851	89831391	523362	14	353											
KRT40	125115	broad.mit.edu	37	chr17	39137347	39137347	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtcaagggtgggggcAgtgtccagctccacactgag	8	8	16	9	0	1	2	1	2	0	0	3	2	3	2	2	4	1	2	2	4	1	1			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:39137347A>T	ENST00000377755.4	-	4	778	c.744T>A	c.(742-744)acT>acA	p.T248T	KRT40_ENST00000398486.2_Silent_p.T248T			Q6A162	K1C40_HUMAN	keratin 40	248	Linker 12.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGTGGGGGCAGTGTCCAGCT	0.537													4	156					0	0	1	0	0	T	39137347	A	T	39137347	2	4	19	1	0	0	0	0	0	0	0	1	8521	175	7	5		5	KRT40	17	39137347	Silent	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08		39137347	42057863	15	354											
FHOD3	80206	broad.mit.edu	37	chr18	33952644	33952644	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctgtctcgttaggCggggcaagaagcacagcatc	8	10	12	11	2	2	1	0	0	2	1	5	1	2	1	1	3	2	4	1	3	3	2			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr18:33952644C>T	ENST00000257209.4	+	3	396	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000359247.4_Splice_Site_p.R92W	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3.				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)				TCTCGTTAGGCGGGGCAAGAA	0.522													13	11					0	0	1	0	0	T	33952644	C	T	33952644	5	4	19	1	0	0	0	0	0	0	1	0	5916	782	27	1	284	1	FHOD3	18	33952644	Splice_Site	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		33952644	44124604	16	355											
LIPE	3991	broad.mit.edu	37	chr19	42912150	42912150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcacttccatctcggtgAtgttccagaaggctttccag	9	12	9	11	1	1	2	0	1	1	1	5	2	4	2	3	2	1	3	3	2	2	4			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:42912150A>G	ENST00000244289.4	-	4	1910	c.1634T>C	c.(1633-1635)aTc>aCc	p.I545T	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	545					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			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)				CATCTCGGTGATGTTCCAGAA	0.597													4	14					0	0	1	0	0	G	42912150	A	G	42912150	3	3	19	1	0	0	0	0	1	0	0	0	8862	333	12	4	1624	4	LIPE	19	42912150	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08		42912150	16216833	17	356											
NLRP2	55655	broad.mit.edu	37	chr19	55494140	55494140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacataagggtggagggCttcctggaggaggacaggag	11	7	17	6	0	1	0	0	0	1	0	2	5	2	5	1	7	1	1	1	7	2	3			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:55494140C>T	ENST00000543010.1	+	6	1217	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000537859.1_Silent_p.G336G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	358	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622													7	19					0	0	1	0	0	T	55494140	C	T	55494140	2	4	19	1	0	0	0	0	0	0	0	1	10524	784	28	2		2	NLRP2	19	55494140	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08	12581990	55494140	3634843	18	357											
TSHZ2	128553	broad.mit.edu	37	chr20	51873020	51873020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatttgtgagcaaacatgCggtaaaactccacctaagca	15	8	8	10	1	0	1	0	1	0	0	1	2	1	1	2	1	5	3	2	1	4	3			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:51873020C>A	ENST00000371497.5	+	2	3910	c.3023C>A	c.(3022-3024)gCg>gAg	p.A1008E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AGCAAACATGCGGTAAAACTC	0.468													3	52					0.150653	0.155848	1	1	0	A	51873020	C	A	51873020	3	1	19	1	0	0	0	0	1	0	0	0	16685	768	27	5	3029	5	TSHZ2	20	51873020	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		51873020	11152500	19	358											
GMEB2	26205	broad.mit.edu	37	chr20	62236107	62236107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctacctaacacggctTccttgagctgggaggaggct	7	10	12	12	1	0	1	0	1	0	0	2	3	2	3	3	4	3	4	3	4	2	5			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:62236107T>C	ENST00000266068.1	-	2	696	c.218A>G	c.(217-219)gAa>gGa	p.E73G	GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TAACACGGCTTCCTTGAGCTG	0.577													27	50					0	0	1	0	0	C	62236107	T	C	62236107	3	2	19	1	0	0	0	0	1	0	0	0	6530	1783	62	4	1406	4	GMEB2	20	62236107	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	10363087	62236107	789413	20	359											
FAM161A	84140	broad.mit.edu	37	chr2	62066857	62066857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtcctcaaaatcaggagTtgggcacctaaccttgtgtt	11	11	10	9	0	2	0	2	0	0	0	3	1	3	1	3	3	1	3	3	3	4	4			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr2:62066857T>C	ENST00000404929.1	-	3	1293	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	FAM161A_ENST00000405894.3_Missense_Mutation_p.T428A	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	428					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						AAATCAGGAGTTGGGCACCTA	0.463													36	63					0	0	1	0	0	C	62066857	T	C	62066857	3	2	20	1	0	0	0	0	1	0	0	0	5502	1725	60	4	716	4	FAM161A	2	62066857	Missense_Mutation	SNP	T	TCGA-V4-A9EQ-01A-11D-A39W-08		62066857	181132516	1	360											
DOCK3	1795	broad.mit.edu	37	chr3	51417579	51417579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactccctacactttgacGccttccaccaccctctgggt	7	12	5	17	1	1	1	0	1	1	0	3	1	3	1	5	1	2	0	5	1	2	4			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr3:51417579G>A	ENST00000266037.9	+	52	5547	c.5524G>A	c.(5524-5526)Gcc>Acc	p.A1842T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1842						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			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)		ACACTTTGACGCCTTCCACCA	0.607													8	1					0	0	1	0	0	A	51417579	G	A	51417579	3	1	20	1	0	0	0	0	1	0	0	0	4715	1087	38	1	5730	1	DOCK3	3	51417579	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		51417579	146604851	2	361											
NPHP3	27031	broad.mit.edu	37	chr3	132411619	132411619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatagagttccatcagttctGattcactcacaccattgtga	11	13	7	10	0	4	3	3	2	1	1	5	4	5	3	2	0	0	2	2	0	1	5			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr3:132411619G>A	ENST00000337331.5	-	17	2440	c.2354C>T	c.(2353-2355)tCa>tTa	p.S785L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	785					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCAGTTCTGATTCACTCAC	0.383													14	1					0	0	1	0	0	A	132411619	G	A	132411619	3	1	20	1	0	0	0	0	1	0	0	0	10627	1294	45	3	1682	3	NPHP3	3	132411619	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08	80994040	132411619	65610811	3	362											
SH3RF2	153769	broad.mit.edu	37	chr5	145427382	145427382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggacattccacagcCgtggtcagtctgcctggctc	6	10	10	15	1	3	0	1	0	2	0	6	1	4	1	4	3	2	1	4	3	0	1			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr5:145427382C>T	ENST00000511217.1	+	5	1159	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	SH3RF2_ENST00000359120.4_Silent_p.A369A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	369							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCCACAGCCGTGGTCAGTC	0.542													22	19					0	0	1	0	0	T	145427382	C	T	145427382	2	4	20	1	0	0	0	0	0	0	0	1	14314	639	23	1		1	SH3RF2	5	145427382	Silent	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08		145427382	35487878	4	363											
BTNL3	10917	broad.mit.edu	37	chr5	180432727	180432727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctatgagggtgggaccatctCcttcttcaatacaaatgacc	11	11	8	11	0	3	2	1	2	2	0	4	3	3	3	3	2	1	0	3	2	4	4			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr5:180432727C>T	ENST00000342868.6	+	8	1440	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	419	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGGACCATCTCCTTCTTCAAT	0.478													22	24					0	0	1	0	0	T	180432727	C	T	180432727	3	4	20	1	0	0	0	0	1	0	0	0	1569	855	30	3	1286	3	BTNL3	5	180432727	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08	35005345	180432727	482533	5	364											
NEDD9	4739	broad.mit.edu	37	chr6	11213718	11213718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagcttctgttggccaaaGgtctgctgcatcagtccaga	9	11	11	10	0	3	2	1	0	2	2	4	2	4	2	2	2	3	4	2	2	2	3			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr6:11213718G>A	ENST00000379446.5	-	2	421	c.255C>T	c.(253-255)acC>acT	p.T85T	NEDD9_ENST00000504387.1_Silent_p.T85T|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Silent_p.T85T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	85					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGCCAAAGGTCTGCTGCA	0.552													19	32					0	0	1	0	0	A	11213718	G	A	11213718	2	1	20	1	0	0	0	0	0	0	0	1	10360	987	35	3		3	NEDD9	6	11213718	Silent	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		11213718	159901349	6	365											
GSTA4	2941	broad.mit.edu	37	chr6	52849353	52849353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttaagaaaggatgcAtgataagcagttccagcaga	14	10	11	6	0	0	3	0	1	0	2	1	4	1	4	1	2	3	5	1	2	3	4			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr6:52849353A>T	ENST00000541324.1	-	3	309	c.44T>A	c.(43-45)aTg>aAg	p.M15K	GSTA4_ENST00000370960.1_Missense_Mutation_p.M15K|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370959.1_Missense_Mutation_p.M108K			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	108	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	GAAAGGATGCATGATAAGCAG	0.423													38	53					0	0	1	0	0	T	52849353	A	T	52849353	3	4	20	1	0	0	0	0	1	0	0	0	6874	217	8	5	357	5	GSTA4	6	52849353	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	41635635	52849353	118265714	7	366											
VWA5A	4013	broad.mit.edu	37	chr11	123988499	123988499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttctttgtgttccccAtggatgaagactctgctgtt	6	15	10	10	0	2	2	0	1	2	1	3	3	3	3	3	2	1	3	3	2	1	4			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr11:123988499A>G	ENST00000456829.2	+	4	414	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	VWA5A_ENST00000392744.4_Missense_Mutation_p.M71V|VWA5A_ENST00000361352.5_Missense_Mutation_p.M55V|VWA5A_ENST00000392748.1_Missense_Mutation_p.M55V|VWA5A_ENST00000449321.1_Missense_Mutation_p.M55V|VWA5A_ENST00000360334.4_Missense_Mutation_p.M55V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	55	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGTGTTCCCCATGGATGAAGA	0.443													32	39					0	0	1	0	0	G	123988499	A	G	123988499	3	3	20	1	0	0	0	0	1	0	0	0	17302	217	8	4	169	4	VWA5A	11	123988499	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08		123988499	11018017	8	367											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2699865	2699865	+	Splice_Site	DEL	G	G	-																															ctcctttgggggcttcggatGgtgggtgacaggtgggaggg																										TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr17:2699865delG	ENST00000254695.8	+	1	134	c.44delG	c.(43-45)tgg>tg	p.W15fs	RAP1GAP2_ENST00000540393.2_Intron|RAP1GAP2_ENST00000366401.4_Splice_Site_p.W15fs|RAP1GAP2_ENST00000542807.1_Splice_Site_p.W15fs	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	15					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGCTTCGGATGGTGGGTGACA	0.622													2	4	---	---	---	---						-	2699865	G	-	2699865	8	5	20	1	0	1	0	1	0	0	1	0	13090	1362	47	0	46	0	RAP1GAP2	17	2699865	Splice_Site	DEL	G	TCGA-V4-A9EQ-01A-11D-A39W-08		2699865	78495345	9	368											
SLC4A1	6521	broad.mit.edu	37	chr17	42335930	42335930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaggctgcagtccaggaagCcctctagggagtgcagcagc	9	6	14	12	0	1	0	0	0	1	0	2	2	2	2	2	3	5	4	2	3	3	2			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr17:42335930C>A	ENST00000262418.6	-	10	1093	c.938G>T	c.(937-939)gGc>gTc	p.G313V	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	313					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCAGGAAGCCCTCTAGGGA	0.647													13	15					5.50884e-06	5.50884e-06	1	1	0	A	42335930	C	A	42335930	3	1	20	1	0	0	0	0	1	0	0	0	14705	739	26	5	1841	5	SLC4A1	17	42335930	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08	39636065	42335930	38859280	10	369											
ABCA6	23460	broad.mit.edu	37	chr17	67119475	67119475	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctcaataaccttagcAttagtcctttggtgttggaa	9	17	7	8	0	2	0	1	0	2	0	4	1	3	1	2	2	2	2	2	2	5	6			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr17:67119475A>G	ENST00000284425.2	-	10	1515	c.1341T>C	c.(1339-1341)aaT>aaC	p.N447N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	447					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)					TAACCTTAGCATTAGTCCTTT	0.368													15	30					0	0	1	0	0	G	67119475	A	G	67119475	2	3	20	1	0	0	0	0	0	0	0	1	36	214	8	4		4	ABCA6	17	67119475	Silent	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	24783545	67119475	14075735	11	370											
MC2R	0	broad.mit.edu	37	chr18	13885067	13885067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgtccagatgaccgtaaGcaccaccacagtgcggcgca	12	4	11	14	4	0	2	0	1	0	1	1	3	1	2	4	1	3	3	4	1	2	1			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr18:13885067G>A	ENST00000327606.3	-	2	631	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	151					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGACCGTAAGCACCACCACA	0.577													16	19					0	0	1	0	0	A	13885067	G	A	13885067	3	1	20	1	0	0	0	0	1	0	0	0	9414	971	34	2	446	2	MC2R	18	13885067	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		13885067	64192181	12	371											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								21	36					0	0	1	0	0	T	3118942	A	T	3118942	3	4	20	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08		3118942	56010041	13	372											
SPOCD1	90853	broad.mit.edu	37	chr1	32258997	32258999	+	In_Frame_Del	DEL	GCA	GCA	-																															agggcagggcctttgtgggtGcagcaggcacatggagccca																										TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr1:32258997_32258999delGCA	ENST00000360482.2	-	13	2694_2696	c.2565_2567delTGC	c.(2563-2568)gctgca>gca	p.855_856AA>A	SPOCD1_ENST00000533231.1_In_Frame_Del_p.855_856AA>A|SPOCD1_ENST00000257100.3_In_Frame_Del_p.348_349AA>A|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	855					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTTTGTGGGTGCAGCAGGCACAT	0.635													2	4	---	---	---	---						-	32258999	GCA	-	32258997	7	5	21	1	0	1	0	1	0	0	0	0	15134	1319	46	0	1099	0	SPOCD1	1	32258997	In_Frame_Del	DEL	GCA	TCGA-V4-A9ES-01A-11D-A39W-08		32258997	216991624	1	373											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								14	27					0	0	1	0	0	T	198267483	C	T	198267483	3	4	21	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		198267483	44931890	2	374											
CAP2	10486	broad.mit.edu	37	chr6	17541321	17541321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccacatctcctaaatCttatccttctcaaaaacatg	14	12	2	13	0	3	0	1	0	3	0	7	0	5	0	3	0	1	0	3	0	6	3			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr6:17541321C>A	ENST00000229922.2	+	9	1476	c.944C>A	c.(943-945)tCt>tAt	p.S315Y	CAP2_ENST00000465994.1_Missense_Mutation_p.S251Y|CAP2_ENST00000489374.1_Missense_Mutation_p.S203Y|CAP2_ENST00000378990.2_Missense_Mutation_p.S289Y|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	315					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTCCTAAATCTTATCCTTCT	0.453													28	53					7.01153e-11	7.74959e-11	1	1	0	A	17541321	C	A	17541321	3	1	21	1	0	0	0	0	1	0	0	0	2638	913	32	5	974	5	CAP2	6	17541321	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		17541321	153573746	3	375											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)tctfs	p.S297fs	RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000398178.3_Intron|TRDN_ENST00000334268.4_Intron	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													4	7	---	---	---	---						A	123786033	-	A	123786032	7	5	21	1	0	1	1	0	0	0	0	0	16529	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-V4-A9ES-01A-11D-A39W-08	106244711	123786032	47329035	4	376											
TRPM6	140803	broad.mit.edu	37	chr9	77390841	77390841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtcgtgaggagctcgatGacagcacaggcggcggagga	9	6	18	8	4	0	2	0	2	0	0	2	6	0	5	0	6	2	2	0	6	0	1			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr9:77390841G>C	ENST00000451710.3	-	24	3598	c.3361C>G	c.(3361-3363)Cat>Gat	p.H1121D	TRPM6_ENST00000361255.3_Missense_Mutation_p.H1116D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.H1121D|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1116D|TRPM6_ENST00000360774.1_Missense_Mutation_p.H1121D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1121					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGCTCGATGACAGCACAGG	0.547													22	67					0	0	1	0	0	C	77390841	G	C	77390841	3	2	21	1	0	0	0	0	1	0	0	0	16651	1290	45	5	2771	5	TRPM6	9	77390841	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		77390841	63822590	5	377											
GNAQ	2776	broad.mit.edu	37	chr9	80412493	80412493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatccctgtggtggggactCgaactctaagcacatcttgt	8	12	11	10	1	2	1	0	1	2	0	4	3	3	2	1	3	2	1	1	3	2	2			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr9:80412493C>T	ENST00000286548.4	-	4	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.R183Q(9)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GGTGGGGACTCGAACTCTAAG	0.468			Mis		uveal melanoma								55	40					0	0	1	0	0	T	80412493	C	T	80412493	3	4	21	1	0	0	0	0	1	0	0	0	6551	884	31	1	547	1	GNAQ	9	80412493	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	3021652	80412493	60800938	6	378											
OR2D3	120775	broad.mit.edu	37	chr11	6943043	6943043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcttctatgggtcaGgaatattcacctacatgcga	9	14	8	10	1	4	0	2	0	2	0	5	2	5	1	2	2	2	0	2	2	4	6			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr11:6943043G>A	ENST00000317834.3	+	1	839	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	271					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)		CTATGGGTCAGGAATATTCAC	0.443													44	43					0	0	1	0	0	A	6943043	G	A	6943043	3	1	21	1	0	0	0	0	1	0	0	0	11043	1001	35	3	813	3	OR2D3	11	6943043	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		6943043	128063473	7	379											
CBX5	23468	broad.mit.edu	37	chr12	54651299	54651299	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggaaaaaaggaacttactCagaaaagcctttccacttca	16	8	8	9	0	2	1	2	0	0	1	3	3	3	3	2	3	3	0	2	3	7	3			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr12:54651299C>T	ENST00000209875.4	-	2	272	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CBX5_ENST00000550411.1_Splice_Site_p.E46K|CBX5_ENST00000439541.2_Splice_Site_p.E46K	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	46	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			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						GGAACTTACTCAGAAAAGCCT	0.443													25	40					0	0	1	0	0	T	54651299	C	T	54651299	5	4	21	1	0	0	0	0	0	0	1	0	2739	840	29	3	455	3	CBX5	12	54651299	Splice_Site	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		54651299	79200596	8	380											
FGF7	2252	broad.mit.edu	37	chr15	49776572	49776572	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccattacaacacatatgcAtcagctaaatggacacacaa	19	7	4	11	0	1	0	1	0	0	0	1	1	1	1	1	1	5	2	1	1	7	3			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					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	p.A152A(1)		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)	ACACATATGCATCAGCTAAAT	0.338													3	50					0	0	1	0	0	C	49776572	A	C	49776572	2	2	21	1	0	0	0	0	0	0	0	1	5890	204	8	5		5	FGF7	15	49776572	Silent	SNP	A	TCGA-V4-A9ES-01A-11D-A39W-08		49776572	52754820	9	381											
TTLL13	440307	broad.mit.edu	37	chr15	90799479	90799479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattacccgaaatcccCgggagatcaagccaggagag	12	7	10	12	2	3	2	2	0	1	2	4	5	4	2	4	2	2	0	4	2	3	2			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr15:90799479C>T	ENST00000438251.1	+	6	945	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.R219W			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	219	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CCGAAATCCCCGGGAGATCAA	0.557													28	0					0	0	1	0	0	T	90799479	C	T	90799479	3	4	21	1	0	0	0	0	1	0	0	0	16788	643	23	1	673	1	TTLL13	15	90799479	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	41022907	90799479	11731913	10	382											
ZNF560	147741	broad.mit.edu	37	chr19	9578390	9578390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcagatgtaccaaaggcTttaccacattccttacaccc	11	10	5	15	0	0	1	0	0	0	1	1	1	1	1	5	1	4	3	5	1	4	5			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr19:9578390T>A	ENST00000301480.4	-	10	1446	c.1233A>T	c.(1231-1233)aaA>aaT	p.K411N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						TACCAAAGGCTTTACCACATT	0.448													15	15					0	0	1	0	0	A	9578390	T	A	9578390	3	1	21	1	0	0	0	0	1	0	0	0	18048	1606	56	5	1143	5	ZNF560	19	9578390	Missense_Mutation	SNP	T	TCGA-V4-A9ES-01A-11D-A39W-08		9578390	49550593	11	383											
DEPDC5	9681	broad.mit.edu	37	chr22	32215199	32215199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaggcgctggatgcacActtttcctgtgggtaagttg	9	11	13	8	1	0	1	0	0	0	1	1	2	1	2	1	3	1	4	1	3	2	4			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr22:32215199A>G	ENST00000400246.1	+	22	2000	c.1858A>G	c.(1858-1860)Act>Gct	p.T620A	DEPDC5_ENST00000536766.1_Missense_Mutation_p.T592A|DEPDC5_ENST00000382105.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T620A			O75140	DEPD5_HUMAN	DEP domain containing 5	620					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						CTGGATGCACACTTTTCCTGT	0.557													34	33					0	0	1	0	0	G	32215199	A	G	32215199	3	3	21	1	0	0	0	0	1	0	0	0	4470	159	6	4	1958	4	DEPDC5	22	32215199	Missense_Mutation	SNP	A	TCGA-V4-A9ES-01A-11D-A39W-08		32215199	19089367	12	384											
CDKL5	6792	broad.mit.edu	37	chrX	18606258	18606258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcctcgcttccatgggCtccgggtaagaggttttgct	6	13	12	10	2	0	1	0	0	0	1	4	1	3	1	3	3	1	6	3	3	2	5			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:18606258C>A	ENST00000379989.3	+	10	1024	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	CDKL5_ENST00000379996.3_Missense_Mutation_p.L247I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	247	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			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)					CTTCCATGGGCTCCGGGTAAG	0.398													4	181					1	1	1	1	0	A	18606258	C	A	18606258	3	1	21	1	0	0	0	0	1	0	0	0	3179	797	28	5	769	5	CDKL5	23	18606258	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		18606258	136664302	13	385											
BCOR	54880	broad.mit.edu	37	chrX	39932447	39932447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcccaaccccagggcatCttggtaggtcacaaactctg	10	8	9	14	0	3	0	1	0	2	0	3	0	3	0	3	3	3	2	3	3	3	2			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:39932447C>G	ENST00000342274.4	-	4	2514	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	BCOR_ENST00000397354.3_Missense_Mutation_p.D718H|BCOR_ENST00000378455.4_Missense_Mutation_p.D718H|BCOR_ENST00000378444.4_Missense_Mutation_p.D718H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	718					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						CCCAGGGCATCTTGGTAGGTC	0.557			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						29	25					0	0	1	0	0	G	39932447	C	G	39932447	3	3	21	1	0	0	0	0	1	0	0	0	1384	913	32	5	3163	5	BCOR	23	39932447	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	21326189	39932447	115338113	14	386											
NRK	203447	broad.mit.edu	37	chrX	105199570	105199570	+	Frame_Shift_Del	DEL	T	T	-																															acttggaaaacttgaagagcTccaaagcaattatgatgtct																										TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:105199570delT	ENST00000428173.2	+	29	5033	c.4730delT	c.(4729-4731)ctcfs	p.L1577fs	NRK_ENST00000540278.1_Frame_Shift_Del_p.L157fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.L1576fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1576							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTGAAGAGCTCCAAAGCAAT	0.373										HNSCC(51;0.14)			2	4	---	---	---	---						-	105199570	T	-	105199570	7	5	21	1	0	1	0	1	0	0	0	0	10703	1551	54	0	4841	0	NRK	23	105199570	Frame_Shift_Del	DEL	T	TCGA-V4-A9ES-01A-11D-A39W-08	65267123	105199570	50070990	15	387											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaattccccttcttggcGcatagatcacaaggaattga	13	11	7	10	1	2	2	1	1	1	1	3	3	3	3	2	2	0	1	2	2	5	6	rs151225064		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493													5	129					0	0	1	0	0	A	220364491	G	A	220364491	3	1	22	1	0	0	0	0	1	0	0	0	12988	1087	38	1	2863	1	RAB3GAP2	1	220364491	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		220364491	28886130	1	388											
SLC23A3	151295	broad.mit.edu	37	chr2	220033409	220033409	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtgtgtgaagcagaactgGgctacctccctgtgggcaga	9	8	14	10	0	0	3	0	1	0	2	1	3	1	3	2	2	3	3	2	2	3	1			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr2:220033409G>C	ENST00000455516.2	-	5	710	c.663C>G	c.(661-663)gcC>gcG	p.A221A	SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000295738.7_Silent_p.A213A|SLC23A3_ENST00000409878.3_Silent_p.A213A	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	213					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGAACTGGGCTACCTCCC	0.672													8	15					0	0	1	0	0	C	220033409	G	C	220033409	2	2	22	1	0	0	0	0	0	0	0	1	14519	1219	43	5		5	SLC23A3	2	220033409	Silent	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		220033409	23165964	2	389											
APEH	327	broad.mit.edu	37	chr3	49716365	49716365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagtggtctttgactcgGctcagcgcagccggcaggtg	7	8	16	10	3	2	2	1	1	1	1	3	3	2	2	1	4	2	3	1	4	0	1			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr3:49716365G>A	ENST00000296456.5	+	12	1541	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T	APEH_ENST00000438011.1_Missense_Mutation_p.A381T	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	381					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTTGACTCGGCTCAGCGCAG	0.607													4	66					0	0	1	0	0	A	49716365	G	A	49716365	3	1	22	1	0	0	0	0	1	0	0	0	764	1203	42	2	1187	2	APEH	3	49716365	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		49716365	148306065	3	390											
ALG1L	200810	broad.mit.edu	37	chr3	125651539	125651539	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttgtgtccatcaagagtAagttgttcaaactctgtgtt	10	15	10	6	0	3	1	2	0	1	1	4	1	4	1	1	1	1	5	1	1	3	5	rs147593769	by1000genomes	TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423													4	74					0	0	1	0	0	C	125651539	A	C	125651539	2	2	22	1	0	0	0	0	0	0	0	1	514	349	13	5		5	ALG1L	3	125651539	Silent	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	75935174	125651539	72370891	4	391											
USP13	8975	broad.mit.edu	37	chr3	179448030	179448030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctttagatccaacacAagatttcaacacacagatgt	14	10	5	12	1	1	3	1	0	0	3	3	3	2	3	2	0	2	0	2	0	4	3			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr3:179448030A>T	ENST00000263966.3	+	9	1613	c.1142A>T	c.(1141-1143)cAa>cTa	p.Q381L	USP13_ENST00000496897.1_Missense_Mutation_p.Q316L|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	381					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GATCCAACACAAGATTTCAAC	0.343													29	40					0	0	1	0	0	T	179448030	A	T	179448030	3	4	22	1	0	0	0	0	1	0	0	0	17104	130	5	5	1176	5	USP13	3	179448030	Missense_Mutation	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	53796491	179448030	18574400	5	392											
PCDHB7	0	broad.mit.edu	37	chr5	140554267	140554267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgggctattcggcgtGtgggcgcacaatggcgaggt	6	7	18	10	5	0	0	0	0	0	0	1	2	0	0	1	5	1	2	1	5	2	2			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr5:140554267G>A	ENST00000231137.3	+	1	2025	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		617	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			TATTCGGCGTGTGGGCGCACA	0.677													23	105					0	0	1	0	0	A	140554267	G	A	140554267	2	1	22	1	0	0	0	0	0	0	0	1	11594	1364	48	3		3	PCDHB7	5	140554267	Silent	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		140554267	40360993	6	393											
NDUFA5	4698	broad.mit.edu	37	chr7	123190629	123190629	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagaatctttgtgtacaaTattcttagcctctgaaaaga	14	14	6	7	0	4	3	1	1	3	2	4	3	4	3	1	0	2	1	1	0	8	5			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr7:123190629T>A	ENST00000471770.1	-	3	212	c.78A>T	c.(76-78)atA>atT	p.I26I	NDUFA5_ENST00000355749.2_Silent_p.I26I|NDUFA5_ENST00000467117.1_5'UTR	NM_001282419.1|NM_001282420.1|NM_001282421.1	NP_001269348.1|NP_001269349.1|NP_001269350.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	26					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	TTGTGTACAATATTCTTAGCC	0.318													6	55					0	0	1	0	0	A	123190629	T	A	123190629	2	1	22	1	0	0	0	0	0	0	0	1	10315	1396	49	5		5	NDUFA5	7	123190629	Silent	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		123190629	35948034	7	394											
CSMD3	114788	broad.mit.edu	37	chr8	113694820	113694820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtccccaaaccgccgtGcattgattggtattccagga	9	11	10	11	2	0	1	0	1	0	0	2	2	2	2	5	2	2	3	5	2	2	5			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr8:113694820G>A	ENST00000297405.5	-	16	2772	c.2528C>T	c.(2527-2529)gCa>gTa	p.A843V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A739V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A803V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A843V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	843	Sushi 4.					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						AAACCGCCGTGCATTGATTGG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	118					0	0	1	0	0	A	113694820	G	A	113694820	3	1	22	1	0	0	0	0	1	0	0	0	3971	1319	46	2	8819	2	CSMD3	8	113694820	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		113694820	32669202	8	395											
LRRTM3	347731	broad.mit.edu	37	chr10	68687631	68687631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgggaatgcagcagaaaTatttgctcccttgtaaactg	13	12	9	7	0	0	1	0	0	0	1	1	2	1	2	1	1	4	4	1	1	6	5			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr10:68687631T>A	ENST00000361320.4	+	2	1535	c.957T>A	c.(955-957)aaT>aaA	p.N319K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	319	LRRCT.					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						GCAGCAGAAATATTTGCTCCC	0.398													14	58					0	0	1	0	0	A	68687631	T	A	68687631	3	1	22	1	0	0	0	0	1	0	0	0	9086	1403	49	5	963	5	LRRTM3	10	68687631	Missense_Mutation	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		68687631	66847116	9	396											
PYROXD2	84795	broad.mit.edu	37	chr10	100147057	100147057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcatagacctcgatgcaAtcaaacactggggtgccaaa	13	6	12	10	1	1	1	1	0	0	1	2	2	1	1	2	4	3	2	2	4	4	1			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr10:100147057A>G	ENST00000370575.4	-	14	1503	c.1455T>C	c.(1453-1455)gaT>gaC	p.D485D	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	485							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCGATGCAATCAAACACTG	0.483													16	22					0	0	1	0	0	G	100147057	A	G	100147057	2	3	22	1	0	0	0	0	0	0	0	1	12919	98	4	4		4	PYROXD2	10	100147057	Silent	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	31459426	100147057	35387690	10	397											
OR52M1	119772	broad.mit.edu	37	chr11	4567078	4567078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagtggctattgctgcaTcctatgtgatgattttcagg	8	15	10	8	0	2	2	2	2	0	0	3	2	3	2	1	2	2	3	1	2	2	5			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr11:4567078T>C	ENST00000360213.1	+	1	658	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGCTGCATCCTATGTGAT	0.522													4	141					0	0	1	0	0	C	4567078	T	C	4567078	3	2	22	1	0	0	0	0	1	0	0	0	11174	1435	50	4	660	4	OR52M1	11	4567078	Missense_Mutation	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		4567078	130439438	11	398											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								25	33					0	0	1	0	0	T	3118942	A	T	3118942	3	4	22	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08		3118942	56010041	12	399											
MACF1	23499	broad.mit.edu	37	chr1	39798840	39798840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaggatctcacataaaaCcccaaagcaaaaagttacaa	19	6	6	10	0	1	0	1	0	1	0	2	2	1	2	2	2	3	2	2	2	7	2			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:39798840C>G	ENST00000564288.1	+	37	7357	c.6580C>G	c.(6580-6582)Ccc>Gcc	p.P2194A	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P634A|MACF1_ENST00000372915.3_Missense_Mutation_p.P2199A|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2231A|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2199					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|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)			TCACATAAAACCCCAAAGCAA	0.358													18	21					0	0	1	0	0	G	39798840	C	G	39798840	3	3	23	1	0	0	0	0	1	0	0	0	9190	507	18	5	6671	5	MACF1	1	39798840	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		39798840	209451781	1	400											
NME7	29922	broad.mit.edu	37	chr1	169256568	169256568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatggggtttaacaaTgcaacaggtacaattagtaa	16	9	10	6	0	0	0	0	0	0	0	0	1	0	0	0	3	5	5	0	3	7	5			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:169256568T>C	ENST00000367811.3	-	7	983	c.727A>G	c.(727-729)Att>Gtt	p.I243V	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.I207V	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGTTTAACAATGCAACAGGTA	0.353													74	92					0	0	1	0	0	C	169256568	T	C	169256568	3	2	23	1	0	0	0	0	1	0	0	0	10543	1464	51	4	427	4	NME7	1	169256568	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08	129457728	169256568	79994053	2	401											
TTLL4	9654	broad.mit.edu	37	chr2	219603802	219603802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagccaacgtggccacccGcctctcttccatccagctgg	7	8	8	18	2	1	0	0	0	1	0	4	0	3	0	6	2	3	1	6	2	2	2			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:219603802G>A	ENST00000392102.1	+	3	1743	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	468					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.R468H(1)		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)		GTGGCCACCCGCCTCTCTTCC	0.532													24	16					0	0	1	0	0	A	219603802	G	A	219603802	3	1	23	1	0	0	0	0	1	0	0	0	16791	1087	38	1	1405	1	TTLL4	2	219603802	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		219603802	23595571	3	402											
GIGYF2	26058	broad.mit.edu	37	chr2	233697734	233697736	+	In_Frame_Del	DEL	GCA	GCA	-																															aaggagttaatgcgccagagGcagcagcagcaagaggctct																										TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:233697734_233697736delGCA	ENST00000373566.3	+	23	2960_2962	c.2763_2765delGCA	c.(2761-2766)aggcag>agg	p.Q925del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q924del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q897del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q925del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q903del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q734del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q903del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	903	Gln-rich.				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)		TGCGCCAGAGGCAGCAGCAGCAA	0.586													2	4	---	---	---	---						-	233697736	GCA	-	233697734	7	5	23	1	0	1	0	1	0	0	0	0	6420	1194	42	0	2845	0	GIGYF2	2	233697734	In_Frame_Del	DEL	GCA	TCGA-V4-A9EU-01A-11D-A39W-08	14093932	233697734	9501639	4	403											
BAP1	8314	broad.mit.edu	37	chr3	52437840	52437840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgttgatggtgttgggctGcagcactgacagttgcccat	7	11	14	9	1	0	2	0	2	0	0	0	3	0	2	1	2	3	6	1	2	0	3			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:52437840G>A	ENST00000460680.1	-	13	1792	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q423*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	441					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		GTGTTGGGCTGCAGCACTGAC	0.567			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							27	3					0	0	1	0	0	A	52437840	G	A	52437840	4	1	23	1	0	0	0	0	0	1	0	0	1309	1328	46	2	888	2	BAP1	3	52437840	Nonsense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		52437840	145584590	5	404											
ZDHHC23	254887	broad.mit.edu	37	chr3	113675265	113675265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcacctcggtgtatGggatcacactgaccttggac	7	12	10	12	1	3	1	2	1	1	0	4	3	3	3	2	3	1	2	2	3	1	3			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:113675265G>C	ENST00000330212.3	+	4	1251	c.952G>C	c.(952-954)Ggg>Cgg	p.G318R	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G312R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	318						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTCGGTGTATGGGATCACACT	0.418													35	4					0	0	1	0	0	C	113675265	G	C	113675265	3	2	23	1	0	0	0	0	1	0	0	0	17672	1348	47	5	962	5	ZDHHC23	3	113675265	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08	61237425	113675265	84347165	6	405											
ARSB	411	broad.mit.edu	37	chr5	78260295	78260295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttggtgaatatgtttgTtgaatacatatttttatatc	10	21	6	4	0	0	2	0	2	0	0	1	2	0	2	1	1	1	2	1	1	7	11			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr5:78260295T>C	ENST00000264914.4	-	3	1170	c.634A>G	c.(634-636)Aca>Gca	p.T212A	ARSB_ENST00000396151.3_Missense_Mutation_p.T212A|ARSB_ENST00000565165.1_Missense_Mutation_p.T212A	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	212					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AATATGTTTGTTGAATACATA	0.373													19	18					0	0	1	0	0	C	78260295	T	C	78260295	3	2	23	1	0	0	0	0	1	0	0	0	987	1725	60	4	1024	4	ARSB	5	78260295	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08		78260295	102654965	7	406											
FAM171A1	221061	broad.mit.edu	37	chr10	15263054	15263054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaccgctcttcagccAcgttcctgtggaattgagaa	10	9	9	13	2	2	2	1	1	1	2	3	4	3	3	4	1	1	2	4	1	2	3			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr10:15263054A>G	ENST00000378116.4	-	6	766	c.760T>C	c.(760-762)Tgg>Cgg	p.W254R	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	254						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCTTCAGCCACGTTCCTGTG	0.507													13	21					0	0	1	0	0	G	15263054	A	G	15263054	3	3	23	1	0	0	0	0	1	0	0	0	5520	159	6	4	1924	4	FAM171A1	10	15263054	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		15263054	120271693	8	407											
DDX51	317781	broad.mit.edu	37	chr12	132624744	132624744	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggcgtccgtgctgatgagCctgccgggacacgcagcatt	6	8	15	12	4	0	2	0	2	0	0	1	3	1	3	3	2	4	3	3	2	0	1			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr12:132624744C>T	ENST00000397333.3	-	12	1712	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	558	Helicase C-terminal.				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)		TGCTGATGAGCCTGCCGGGAC	0.692													18	18					0	0	1	0	0	T	132624744	C	T	132624744	5	4	23	1	0	0	0	0	0	0	1	0	4392	753	26	2	342	2	DDX51	12	132624744	Splice_Site	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		132624744	1227151	9	408											
C14orf166	51637	broad.mit.edu	37	chr14	52471211	52471211	+	Silent	SNP	A	A	C																															ctgatccaaagacagaccacAgactgggaaaagttggaaga																										TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471211A>C	ENST00000261700.3	+	8	877	c.712A>C	c.(712-714)Aga>Cga	p.R238R	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	238						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					GACAGACCACAGACTGGGAAA	0.438													8	17					0	0	1	0	0	C	52471211	A	C	52471211	2	2	23	1	0	0	0	0	0	0	0	1	1762	180	7	5		5	C14orf166	14	52471211	Silent	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		52471211	54878329	10	409	5	2									
C14orf166	51637	broad.mit.edu	37	chr14	52471216	52471217	+	In_Frame_Ins	INS	-	-	ACT																															caaagacagaccacagactgINSggaaaagttggaagatgaac																										TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471216_52471217insACT	ENST00000261700.3	+	8	882_883	c.717_718insACT	c.(718-720)gga>ACTgga	p.239_240insT	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	239						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	p.L239L(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ACCACAGACTGGGAAAAGTTGG	0.436													10	18	---	---	---	---						ACT	52471217	-	ACT	52471216	7	5	23	1	0	1	1	0	0	0	0	0	1762	1335	47	0	747	0	C14orf166	14	52471216	In_Frame_Ins	INS	-	TCGA-V4-A9EU-01A-11D-A39W-08	5	52471216	54878324	11	410	5	2									
C16orf11	146325	broad.mit.edu	37	chr16	613805	613806	+	Frame_Shift_Ins	INS	-	-	G																															ggggatgggaggggacccaaINSggggcgtgggtgcgggggac																										TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr16:613805_613806insG	ENST00000409413.3	+	2	790_791	c.511_512insG	c.(511-513)aggfs	p.R171fs		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	171	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGGGACCCAAGGGGCGTGGGT	0.738													2	4	---	---	---	---						G	613806	-	G	613805	7	5	23	1	0	1	1	0	0	0	0	0	1817	63	3	0	513	0	C16orf11	16	613805	Frame_Shift_Ins	INS	-	TCGA-V4-A9EU-01A-11D-A39W-08		613805	89740948	12	411											
FUK	197258	broad.mit.edu	37	chr16	70500809	70500809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggctccccgccaggcGtgtgggtctgcagcaccgac	4	5	15	17	4	1	0	0	0	1	0	2	1	2	0	5	3	2	3	5	3	0	0	rs17881323	by1000genomes	TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr16:70500809G>A	ENST00000288078.6	+	6	668	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	FUK_ENST00000428974.2_Missense_Mutation_p.V129M|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.V178M	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	146			V -> M (in dbSNP:rs17881323).			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)				CCCGCCAGGCGTGTGGGTCTG	0.637													14	9					0	0	1	0	0	A	70500809	G	A	70500809	3	1	23	1	0	0	0	0	1	0	0	0	6131	1145	40	1	454	1	FUK	16	70500809	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08	69887004	70500809	19853944	13	412											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								10	25					0	0	1	0	0	T	3118942	A	T	3118942	3	4	23	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		3118942	56010041	14	413											
SLC12A5	57468	broad.mit.edu	37	chr20	44672542	44672542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgttgttctgtttggggCctgcattgagggggtcgtcc	2	14	15	10	2	1	1	0	1	1	0	4	1	3	1	3	4	1	4	3	4	0	4			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr20:44672542C>T	ENST00000243964.3	+	11	1462	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	SLC12A5_ENST00000454036.2_Missense_Mutation_p.A478V	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	478					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)	CTGTTTGGGGCCTGCATTGAG	0.557													30	47					0	0	1	0	0	T	44672542	C	T	44672542	3	4	23	1	0	0	0	0	1	0	0	0	14441	739	26	2	1531	2	SLC12A5	20	44672542	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		44672542	18352978	15	414											
SH2D5	400745	broad.mit.edu	37	chr1	21051092	21051092	+	Frame_Shift_Del	DEL	G	G	-																															ctgcaagaggtaagccagctGgaaagagcggcacagcagca																										TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr1:21051092delG	ENST00000375031.1	-	5	799	c.175delC	c.(175-177)cagfs	p.Q59fs	SH2D5_ENST00000444387.2_Frame_Shift_Del_p.Q143fs|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	59										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAAGCCAGCTGGAAAGAGCGG	0.657													2	4	---	---	---	---						-	21051092	G	-	21051092	7	5	24	1	0	1	0	1	0	0	0	0	14291	1357	47	0	864	0	SH2D5	1	21051092	Frame_Shift_Del	DEL	G	TCGA-V4-A9EV-01A-11D-A39W-08		21051092	228199529	1	415											
CHST2	9435	broad.mit.edu	37	chr3	142840445	142840445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtgtgctcgtcaccaCtctgccccgcctaccgcaag	6	8	11	16	3	2	0	1	0	1	0	3	0	2	0	5	2	3	2	5	2	2	1			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr3:142840445C>T	ENST00000309575.3	+	2	2171	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	263					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|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						CTCGTCACCACTCTGCCCCGC	0.672													8	2					0	0	1	0	0	T	142840445	C	T	142840445	3	4	24	1	0	0	0	0	1	0	0	0	3426	565	20	3	789	3	CHST2	3	142840445	Missense_Mutation	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		142840445	55181985	2	416											
H2AFZ	3015	broad.mit.edu	37	chr4	100870470	100870470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctgcgctgtacacaGcggcagtcgcgcccacacgt	7	6	14	14	5	0	0	0	0	0	0	1	1	0	1	1	3	3	4	1	3	1	1			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr4:100870470G>A	ENST00000296417.5	-	3	372	c.155C>T	c.(154-156)gCt>gTt	p.A52V	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	52					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		GCTGTACACAGCGGCAGTCGC	0.542											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24					0	0	1	0	0	A	100870470	G	A	100870470	3	1	24	1	0	0	0	0	1	0	0	0	6972	971	34	2	243	2	H2AFZ	4	100870470	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		100870470	90283806	3	417											
NR3C1	2908	broad.mit.edu	37	chr5	142780179	142780179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactgctttggacagatctgGctgctgcgcattgcttactg	7	13	11	10	1	1	1	0	0	1	1	1	2	1	2	0	2	6	5	0	2	2	3			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr5:142780179G>A	ENST00000343796.2	-	2	1219	c.226C>T	c.(226-228)Cca>Tca	p.P76S	NR3C1_ENST00000394466.2_Missense_Mutation_p.P76S|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.P76S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P76S|NR3C1_ENST00000424646.2_Missense_Mutation_p.P76S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P76S|NR3C1_ENST00000231509.3_Missense_Mutation_p.P76S|NR3C1_ENST00000415690.2_Missense_Mutation_p.P76S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	76	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GACAGATCTGGCTGCTGCGCA	0.493													50	70					0	0	1	0	0	A	142780179	G	A	142780179	3	1	24	1	0	0	0	0	1	0	0	0	10678	1203	42	2	2194	2	NR3C1	5	142780179	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		142780179	38135081	4	418											
FAT2	2196	broad.mit.edu	37	chr5	150948137	150948137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttctctgtggcttggAtgatgagggtgtagctgtct	5	15	15	6	0	3	2	0	2	3	0	4	3	3	3	0	4	1	3	0	4	1	3			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr5:150948137A>G	ENST00000261800.5	-	1	368	c.356T>C	c.(355-357)aTc>aCc	p.I119T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	119	Cadherin 1.				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)			TGTGGCTTGGATGATGAGGGT	0.517													12	93					0	0	1	0	0	G	150948137	A	G	150948137	3	3	24	1	0	0	0	0	1	0	0	0	5723	333	12	4	12785	4	FAT2	5	150948137	Missense_Mutation	SNP	A	TCGA-V4-A9EV-01A-11D-A39W-08	8167958	150948137	29967123	5	419											
SYNE1	23345	broad.mit.edu	37	chr6	152763338	152763338	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcctgcgcgatctgctGctgcacatctctcttctttg	3	14	9	15	3	4	0	0	0	4	0	5	1	4	0	1	0	5	3	1	0	0	2			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr6:152763338G>A	ENST00000367255.5	-	31	4481	c.3880C>T	c.(3880-3882)Cag>Tag	p.Q1294*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1360*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q1284*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q1294*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1294					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		GCGATCTGCTGCTGCACATCT	0.542										HNSCC(10;0.0054)			17	46					0	0	1	0	0	A	152763338	G	A	152763338	4	1	24	1	0	0	0	0	0	1	0	0	15502	1328	46	2	23050	2	SYNE1	6	152763338	Nonsense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		152763338	18351729	6	420											
FBXL13	222235	broad.mit.edu	37	chr7	102669190	102669190	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacgagctatgtctctcCaagtgctgcaggcagaagac	10	10	11	10	1	1	2	0	0	1	2	3	3	2	2	1	1	4	5	1	1	4	3			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr7:102669190C>T	ENST00000393772.2	-	4	500	c.74G>A	c.(73-75)tGg>tAg	p.W25*	FBXL13_ENST00000379305.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.W25*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.W25*			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	25										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TATGTCTCTCCAAGTGCTGCA	0.318													4	39					0	0	1	0	0	T	102669190	C	T	102669190	4	4	24	1	0	0	0	0	0	1	0	0	5742	595	21	3	2201	3	FBXL13	7	102669190	Nonsense_Mutation	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		102669190	56469473	7	421											
TMEM68	137695	broad.mit.edu	37	chr8	56675150	56675150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaacacagttccaatgcaGcacacatgaatggcaacaca	16	6	8	11	0	0	1	0	1	0	0	1	1	1	1	1	2	4	5	1	2	4	2			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr8:56675150G>A	ENST00000521229.1	-	3	581	c.369C>T	c.(367-369)tgC>tgT	p.C123C	TMEM68_ENST00000522576.1_Silent_p.C123C|TMEM68_ENST00000434581.2_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Intron			Q96MH6	TMM68_HUMAN	transmembrane protein 68	0						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTCCAATGCAGCACACATGAA	0.403													4	102					0	0	1	0	0	A	56675150	G	A	56675150	2	1	24	1	0	0	0	0	0	0	0	1	16257	986	34	2		2	TMEM68	8	56675150	Silent	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		56675150	89688872	8	422											
PRKD1	5587	broad.mit.edu	37	chr14	30108044	30108044	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaggtgaattggtcGtccaatgtatgattgagaat	11	14	11	5	1	1	3	1	3	0	1	3	4	2	3	1	2	0	1	1	2	5	4			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr14:30108044G>A	ENST00000331968.5	-	5	992	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Nonsense_Mutation_p.R263*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	255					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)		TGAATTGGTCGTCCAATGTAT	0.418													23	31					0	0	1	0	0	A	30108044	G	A	30108044	4	1	24	1	0	0	0	0	0	1	0	0	12570	1153	40	1	2031	1	PRKD1	14	30108044	Nonsense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		30108044	77241496	9	423											
EXD1	161829	broad.mit.edu	37	chr15	41501729	41501729	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtttgccatggcgacaTacattcgctccttctgctgc	7	12	8	14	2	1	0	0	0	1	0	3	1	2	0	2	1	4	3	2	1	1	4			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr15:41501729T>C	ENST00000314992.5	-	5	520	c.330A>G	c.(328-330)gtA>gtG	p.V110V	EXD1_ENST00000458580.2_Silent_p.V168V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	110	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CATGGCGACATACATTCGCTC	0.378													12	36					0	0	1	0	0	C	41501729	T	C	41501729	2	2	24	1	0	0	0	0	0	0	0	1	5324	1393	49	4		4	EXD1	15	41501729	Silent	SNP	T	TCGA-V4-A9EV-01A-11D-A39W-08		41501729	61029663	10	424											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								9	22					0	0	1	0	0	T	3118942	A	T	3118942	3	4	24	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EV-01A-11D-A39W-08		3118942	56010041	11	425											
MEGF8	1954	broad.mit.edu	37	chr19	42857739	42857739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccacgccgtggccactgcGacaacctcagtgggctctgc	7	6	11	17	3	2	0	1	0	1	0	2	1	2	0	4	2	3	1	4	2	1	0			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr19:42857739G>A	ENST00000334370.4	+	20	4107	c.3472G>A	c.(3472-3474)Gac>Aac	p.D1158N	MEGF8_ENST00000251268.6_Missense_Mutation_p.D1225N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1225						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)				TGGCCACTGCGACAACCTCAG	0.692													3	3					0	0	1	0	0	A	42857739	G	A	42857739	3	1	24	1	0	0	0	0	1	0	0	0	9513	1058	37	1	3550	1	MEGF8	19	42857739	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08	39738797	42857739	16271244	12	426											
HIRA	7290	broad.mit.edu	37	chr22	19343354	19343354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attactgggattccatgctgCgtcagcaagatctgtgatac	10	12	10	9	1	2	2	1	1	1	1	3	3	3	3	1	1	5	2	1	1	3	3			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr22:19343354C>T	ENST00000263208.5	-	21	2746	c.2490G>A	c.(2488-2490)acG>acA	p.T830T	HIRA_ENST00000340170.4_Silent_p.T623T|HIRA_ENST00000541063.1_Silent_p.T786T|HIRA_ENST00000546308.1_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	830	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCCATGCTGCGTCAGCAAGA	0.478													8	17					0	0	1	0	0	T	19343354	C	T	19343354	2	4	24	1	0	0	0	0	0	0	0	1	7161	755	27	1		1	HIRA	22	19343354	Silent	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		19343354	31961212	13	427											
CNST	163882	broad.mit.edu	37	chr1	246823587	246823587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatgcaacacaaaccAtctaagcgaagagtgagatt	17	6	8	10	1	1	2	0	1	1	2	1	4	1	2	2	0	4	1	2	0	5	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr1:246823587A>G	ENST00000366513.4	+	10	2192	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	641					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AACACAAACCATCTAAGCGAA	0.428													47	85					0	0	1	0	0	G	246823587	A	G	246823587	2	3	25	1	0	0	0	0	0	0	0	1	3657	204	8	4		4	CNST	1	246823587	Silent	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		246823587	2427034	1	428											
KCNK3	3777	broad.mit.edu	37	chr2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttccagagcctgggcgagcGcatcaacaccttggtgaggt	8	8	14	11	2	1	2	1	1	0	1	2	3	2	2	3	3	3	2	3	3	1	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCGAGCGCATCAACACC	0.652													3	59					0	0	1	0	0	A	26950643	G	A	26950643	3	1	25	1	0	0	0	0	1	0	0	0	8111	1087	38	1	398	1	KCNK3	2	26950643	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		26950643	216248730	2	429											
USP34	9736	broad.mit.edu	37	chr2	61633100	61633100	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtggttcttctgcttgatTactctcatcttgccacgtgg	5	16	9	11	1	4	1	1	1	4	0	5	1	4	1	1	2	3	2	1	2	1	5			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:61633100T>G	ENST00000398571.2	-	3	371	c.295A>C	c.(295-297)Aat>Cat	p.N99H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	99					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		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)			TCTGCTTGATTACTCTCATCT	0.353													3	103					0	0	1	0	0	G	61633100	T	G	61633100	3	3	25	1	0	0	0	0	1	0	0	0	17125	1754	61	5	10657	5	USP34	2	61633100	Missense_Mutation	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08	34682457	61633100	181566273	3	430											
SF3B1	23451	broad.mit.edu	37	chr2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	9	15	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	4	5			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		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)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome								24	34					0	0	1	0	0	A	198267484	G	A	198267484	3	1	25	1	0	0	0	0	1	0	0	0	14203	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08	136634384	198267484	44931889	4	431											
SLC34A2	10568	broad.mit.edu	37	chr4	25677956	25677956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgctggccggctggcGggtgctggttggtgtcgggg	0	10	20	11	4	1	0	0	0	1	0	3	0	1	0	2	8	1	4	2	8	0	1			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:25677956G>A	ENST00000382051.3	+	13	1708	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	SLC34A2_ENST00000503434.1_Missense_Mutation_p.R552Q|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R552Q	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					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)				GCCGGCTGGCGGGTGCTGGTT	0.592			T	ROS1	NSCLC								4	98					0	0	1	0	0	A	25677956	G	A	25677956	3	1	25	1	0	0	0	0	1	0	0	0	14623	1116	39	1	1704	1	SLC34A2	4	25677956	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		25677956	165476320	5	432											
WDFY3	23001	broad.mit.edu	37	chr4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaagaatttgctcggcGcacaacagtaagaagtctga	14	8	10	9	2	2	4	1	1	1	3	3	4	2	4	0	1	2	3	0	1	5	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:85715780G>A	ENST00000322366.6	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127						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)		TTTGCTCGGCGCACAACAGTA	0.448													4	124					0	0	1	0	0	A	85715780	G	A	85715780	3	1	25	1	0	0	0	0	1	0	0	0	17330	1087	38	1	7393	1	WDFY3	4	85715780	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08	60037824	85715780	105438496	6	433											
PKHD1L1	93035	broad.mit.edu	37	chr8	110503272	110503286	+	In_Frame_Del	DEL	ATTTGGGACAGATGG	ATTTGGGACAGATGG	-																															ttctctccagcaattggtgtAtttgggacagatggattgga																										TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr8:110503272_110503286delATTTGGGACAGATGG	ENST00000378402.5	+	61	10160_10174	c.10056_10070delATTTGGGACAGATGG	c.(10054-10071)gtatttgggacagatgga>gta	p.FGTDG3353del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3353					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D3358H(1)		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)			CAATTGGTGTATTTGGGACAGATGGATTGGACATA	0.381										HNSCC(38;0.096)			8	62	---	---	---	---						-	110503286	ATTTGGGACAGATGG	-	110503272	7	5	25	1	0	1	0	1	0	0	0	0	12020	436	16	0	10298	0	PKHD1L1	8	110503272	In_Frame_Del	DEL	ATTTGGGACAGATGG	TCGA-V4-A9EW-01A-11D-A39W-08		110503272	35860750	7	434											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								30	45					0	0	1	0	0	G	80409488	T	G	80409488	3	3	25	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08		80409488	60803943	8	435											
SLC5A12	159963	broad.mit.edu	37	chr11	26725463	26725463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacaaccatctgaaatGcatctgtccacaccactgct	12	10	5	14	0	3	2	1	2	2	0	4	2	4	2	3	0	3	2	3	0	2	0			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:26725463G>A	ENST00000396005.3	-	5	866	c.557C>T	c.(556-558)gCa>gTa	p.A186V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	186					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CATCTGAAATGCATCTGTCCA	0.423													66	67					0	0	1	0	0	A	26725463	G	A	26725463	3	1	25	1	0	0	0	0	1	0	0	0	14719	1319	46	2	1343	2	SLC5A12	11	26725463	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		26725463	108281053	9	436											
ACP2	53	broad.mit.edu	37	chr11	47261683	47261683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtcaggcgtggtcctccCcatctgcgacgtggcggtag	4	10	15	12	4	2	0	1	0	1	0	4	1	4	0	3	4	1	2	3	4	1	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:47261683C>T	ENST00000256997.3	-	11	1372	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000525230.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	419						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GTGGTCCTCCCCATCTGCGAC	0.652													6	49					0	0	1	0	0	T	47261683	C	T	47261683	3	4	25	1	0	0	0	0	1	0	0	0	163	623	22	3	19	3	ACP2	11	47261683	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	20536220	47261683	87744833	10	437											
SLCO2B1	11309	broad.mit.edu	37	chr11	74876892	74876892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgggtgcaccgacccCgaatgattggctatggggct	7	7	15	12	3	0	1	0	1	0	0	0	3	0	1	4	4	2	4	4	4	2	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:74876892C>G	ENST00000289575.5	+	4	741	c.346C>G	c.(346-348)Cga>Gga	p.R116G	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					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)	GCACCGACCCCGAATGATTGG	0.572													9	147					0	0	1	0	0	G	74876892	C	G	74876892	3	3	25	1	0	0	0	0	1	0	0	0	14782	644	23	5	360	5	SLCO2B1	11	74876892	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	27615209	74876892	60129624	11	438											
CNTN5	53942	broad.mit.edu	37	chr11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccatctcgaatgatcCgcacaaatgaagcaggtaaa	15	6	8	12	2	1	2	0	2	1	0	3	3	2	2	3	1	1	4	3	1	5	1			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443													12	17					0	0	1	0	0	T	100141958	C	T	100141958	3	4	25	1	0	0	0	0	1	0	0	0	3667	652	23	1	2361	1	CNTN5	11	100141958	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	25265066	100141958	34864558	12	439											
DCAF11	0	broad.mit.edu	37	chr14	24589052	24589052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcgggaggatgaccccaagCctgtgggtgcactggctgga	7	7	17	10	1	0	1	0	1	0	0	0	4	0	4	3	5	3	2	3	5	1	0			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr14:24589052C>T	ENST00000446197.3	+	11	1766	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S|DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	347						CUL4 RING ubiquitin ligase complex	protein binding										TGACCCCAAGCCTGTGGGTGC	0.562													7	10					0	0	1	0	0	T	24589052	C	T	24589052	3	4	25	1	0	0	0	0	1	0	0	0	4286	739	26	2	1077	2	DCAF11	14	24589052	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08		24589052	82760488	13	440											
ZFYVE19	84936	broad.mit.edu	37	chr15	41099958	41099958	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggtccaaggggcccAggacttggccggcgtgatct	6	7	18	10	2	1	2	0	2	1	0	2	3	2	3	3	7	0	0	3	7	1	1			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:41099958A>G	ENST00000355341.4	+	1	672	c.171A>G	c.(169-171)ccA>ccG	p.P57P	ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.P57P|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	57							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAAGGGGCCCAGGACTTGGCC	0.677													10	18					0	0	1	0	0	G	41099958	A	G	41099958	2	3	25	1	0	0	0	0	0	0	0	1	17723	175	7	4		4	ZFYVE19	15	41099958	Silent	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		41099958	61431434	14	441											
FAM63B	54629	broad.mit.edu	37	chr15	59144134	59144134	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggaacaagcagcagcTgctgctgctgctgcttctac	10	8	11	12	0	1	0	0	0	1	0	1	2	1	1	0	1	11	8	0	1	4	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:59144134T>A	ENST00000559228.1	+	8	1789	c.1707T>A	c.(1705-1707)gcT>gcA	p.A569A	FAM63B_ENST00000450403.2_Silent_p.A569A			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	569	Gln-rich.									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						AAGCAGCAGCTGCTGCTGCTG	0.473													3	66					0	0	1	0	0	A	59144134	T	A	59144134	2	1	25	1	0	0	0	0	0	0	0	1	5632	1567	55	5		5	FAM63B	15	59144134	Silent	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08	18044176	59144134	43387258	15	442											
LCAT	3931	broad.mit.edu	37	chr16	67976291	67976291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaagaccagcatgggcttGatggagccaccccagggagc	10	4	14	13	0	0	2	0	1	0	1	0	4	0	4	5	3	3	2	5	3	1	1			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr16:67976291G>A	ENST00000264005.5	-	5	752	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	241					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCATGGGCTTGATGGAGCCAC	0.587													4	24					0	0	1	0	0	A	67976291	G	A	67976291	2	1	25	1	0	0	0	0	0	0	0	1	8697	1280	45	3		3	LCAT	16	67976291	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		67976291	22378462	16	443											
RUNDC1	146923	broad.mit.edu	37	chr17	41143307	41143307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagaggccatgcacccGtgggagctctttgtaaagta	9	8	12	12	1	1	1	0	0	1	1	1	2	1	2	4	2	2	4	4	2	3	3			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr17:41143307G>A	ENST00000361677.1	+	5	1428	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	472	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCATGCACCCGTGGGAGCTCT	0.577													11	56					0	0	1	0	0	A	41143307	G	A	41143307	2	1	25	1	0	0	0	0	0	0	0	1	13794	1132	40	1		1	RUNDC1	17	41143307	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		41143307	40051903	17	444											
LILRB5	0	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	22					0	0	1	0	0	G	54754843	A	G	54754843	3	3	25	1	0	0	0	0	1	0	0	0	8834	319	11	4		4	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		54754843	4374140	18	445											
MAOB	4129	broad.mit.edu	37	chrX	43703012	43703012	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttggctgctgccataccTgggagaaaagacagtaagac	13	8	12	8	0	0	3	0	0	0	3	0	4	0	3	2	2	3	4	2	2	4	3			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:43703012T>A	ENST00000378069.4	-	2	194		c.e2-2		MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B						xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CTGCCATACCTGGGAGAAAAG	0.502													11	48					0	0	1	0	0	A	43703012	T	A	43703012	5	1	25	1	0	0	0	0	0	0	1	0	9276	1594	55	5	1573	5	MAOB	23	43703012	Splice_Site	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08		43703012	111567548	19	446											
G6PD	2539	broad.mit.edu	37	chrX	153761236	153761236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggggcaccgtggggtcGtccaggtaccctttggtggc	3	8	17	13	4	0	0	0	0	0	0	2	0	1	0	4	7	1	2	4	7	1	2			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:153761236G>A	ENST00000393562.2	-	9	1445	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	G6PD_ENST00000393564.2_Silent_p.D324D|G6PD_ENST00000369620.2_Silent_p.D370D	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	324					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	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	p.D354D(1)|p.D324D(1)		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)					CCGTGGGGTCGTCCAGGTACC	0.617													4	82					0	0	1	0	0	A	153761236	G	A	153761236	2	1	25	1	0	0	0	0	0	0	0	1	6181	1136	40	1		1	G6PD	23	153761236	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08	110058224	153761236	1509324	20	447											
AIM1L	55057	broad.mit.edu	37	chr1	26655240	26655240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatgccccccttgatcCgcacagacagcacatggttg	9	8	8	16	1	1	2	1	1	0	1	2	2	2	2	4	1	2	3	4	1	0	2			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:26655240C>T	ENST00000527815.1	-	15	1866	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	AIM1L_ENST00000308182.5_Missense_Mutation_p.R435Q	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	435	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCCTTGATCCGCACAGACAG	0.617													30	58					0	0	1	0	0	T	26655240	C	T	26655240	3	4	26	1	0	0	0	0	1	0	0	0	428	652	23	1	566	1	AIM1L	1	26655240	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		26655240	222595381	1	448											
PDE4DIP	9659	broad.mit.edu	37	chr1	144856945	144856945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtcatcaatgtggccaatGacatggcggccatgcttatt	10	12	10	9	1	2	1	2	1	0	0	2	1	2	1	2	3	1	1	2	3	4	3			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:144856945G>A	ENST00000369359.4	-	43	6986	c.6948C>T	c.(6946-6948)gtC>gtT	p.V2316V	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.V2265V|PDE4DIP_ENST00000369354.3_Silent_p.V2180V|PDE4DIP_ENST00000369356.4_Silent_p.V2180V|PDE4DIP_ENST00000313382.9_Silent_p.V2074V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2180					cellular protein complex assembly	centrosome|Golgi apparatus|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)		TGTGGCCAATGACATGGCGGC	0.512			T	PDGFRB	MPD								21	59					0	0	1	0	0	A	144856945	G	A	144856945	2	1	26	1	0	0	0	0	0	0	0	1	11690	1277	45	3		3	PDE4DIP	1	144856945	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08	118201705	144856945	104393676	2	449											
PRPF3	9129	broad.mit.edu	37	chr1	150297351	150297351	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttttttttttttttttAggtgtagtattgagtcctgt	4	26	7	4	0	1	1	0	1	1	0	3	1	2	1	1	1	0	2	1	1	3	11			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:150297351A>G	ENST00000324862.6	+	2	117		c.e2-1		PRPF3_ENST00000543398.1_Splice_Site|PRPF3_ENST00000414970.2_Splice_Site	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3						nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			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)		TTTTTTTTTTAGGTGTAGTAT	0.418													4	19					0	0	1	0	0	G	150297351	A	G	150297351	5	3	26	1	0	0	0	0	0	0	1	0	12617	434	15	4		4	PRPF3	1	150297351	Splice_Site	SNP	A	TCGA-V4-A9EX-01A-11D-A39W-08	5440406	150297351	98953270	3	450											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	4	14	12	11	2	4	1	0	1	4	0	5	2	5	2	3	2	1	1	3	2	2	3			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	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						TCCGTCTGACCGTAGTGGGAA	0.498													4	327					0	0	1	0	0	T	152128689	C	T	152128689	3	4	26	1	0	0	0	0	1	0	0	0	13716	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	1831338	152128689	97121932	4	451											
SSFA2	6744	broad.mit.edu	37	chr2	182786871	182786871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accttctactgcctcagtggGcaaatccaaaaccccattag	12	9	6	14	0	2	0	1	0	1	0	3	0	3	0	5	1	3	1	5	1	5	3			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr2:182786871G>A	ENST00000431877.2	+	16	3586	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	SSFA2_ENST00000409136.1_Missense_Mutation_p.G645D|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.G1114D|SSFA2_ENST00000428267.2_Missense_Mutation_p.G961D|SSFA2_ENST00000320370.7_Missense_Mutation_p.G1136D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1136						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)			GCCTCAGTGGGCAAATCCAAA	0.478													4	105					0	0	1	0	0	A	182786871	G	A	182786871	3	1	26	1	0	0	0	0	1	0	0	0	15239	1203	42	2	3469	2	SSFA2	2	182786871	Missense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		182786871	60412502	5	452											
PTPN23	25930	broad.mit.edu	37	chr3	47454066	47454066	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtcctgcagcgccaTggtgtgcctcctccatgcaa	7	8	12	14	1	0	0	0	0	0	0	3	1	3	0	5	2	5	3	5	2	1	0			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr3:47454066T>C	ENST00000265562.4	+	24	4457	c.4380T>C	c.(4378-4380)caT>caC	p.H1460H	PTPN23_ENST00000431726.1_Silent_p.H1334H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1460					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGCGCCATGGTGTGCCTC	0.612													10	3					0	0	1	0	0	C	47454066	T	C	47454066	2	2	26	1	0	0	0	0	0	0	0	1	12840	1461	51	4		4	PTPN23	3	47454066	Silent	SNP	T	TCGA-V4-A9EX-01A-11D-A39W-08		47454066	150568364	6	453											
BAP1	8314	broad.mit.edu	37	chr3	52443574	52443574	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtacagccactcacccctGacatttgctctgaaggtcgt	8	11	9	13	1	2	2	1	2	1	0	3	2	2	2	3	1	3	2	3	1	2	2			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr3:52443574G>A	ENST00000460680.1	-	3	589	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q40*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	40					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q40*(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)		ACTCACCCCTGACATTTGCTC	0.582			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							85	20					0	0	1	0	0	A	52443574	G	A	52443574	4	1	26	1	0	0	0	0	0	1	0	0	1309	1299	45	3	2131	3	BAP1	3	52443574	Nonsense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08	4989508	52443574	145578856	7	454											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)tctfs	p.S297fs	TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000398178.3_Intron	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	6	---	---	---	---						A	123786033	-	A	123786032	7	5	26	1	0	1	1	0	0	0	0	0	16529	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-V4-A9EX-01A-11D-A39W-08		123786032	47329035	8	455											
KIAA1244	57221	broad.mit.edu	37	chr6	138608050	138608050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcacggctgagctgcgctCtaggtaccagcgggagtagt	7	7	15	12	4	1	1	0	1	1	0	1	2	1	2	2	3	4	6	2	3	3	3			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr6:138608050C>G	ENST00000251691.4	+	16	2948	c.2782C>G	c.(2782-2784)Cta>Gta	p.L928V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	928					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)		GAGCTGCGCTCTAGGTACCAG	0.622													4	6					0	0	1	0	0	G	138608050	C	G	138608050	3	3	26	1	0	0	0	0	1	0	0	0	8259	912	32	5	2844	5	KIAA1244	6	138608050	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	14822018	138608050	32507017	9	456											
SBDS	51119	broad.mit.edu	37	chr7	66456163	66456163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttcactttctatgacCttgatcagtggcttgagctt	8	17	7	9	0	4	3	2	3	2	0	4	3	4	3	1	1	1	2	1	1	2	7			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr7:66456163C>A	ENST00000246868.2	-	4	768	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	195					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTTCTATGACCTTGATCAGTG	0.363			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				3	59					1	1	1	1	0	A	66456163	C	A	66456163	3	1	26	1	0	0	0	0	1	0	0	0	13910	680	24	5	175	5	SBDS	7	66456163	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		66456163	92682500	10	457											
GLIS3	169792	broad.mit.edu	37	chr9	3856041	3856041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccatttggttgaaaagaaGagtttgtttctggctgatag	11	15	11	4	0	1	4	0	2	1	2	1	4	1	4	1	2	1	4	1	2	5	6			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr9:3856041G>A	ENST00000324333.10	-	8	2169	c.1976C>T	c.(1975-1977)tCt>tTt	p.S659F	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S814F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	659					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)		TTGAAAAGAAGAGTTTGTTTC	0.443													46	47					0	0	1	0	0	A	3856041	G	A	3856041	3	1	26	1	0	0	0	0	1	0	0	0	6489	942	33	3	363	3	GLIS3	9	3856041	Missense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		3856041	137357390	11	458											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								30	38					0	0	1	0	0	G	80409488	T	G	80409488	3	3	26	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EX-01A-11D-A39W-08	76553447	80409488	60803943	12	459											
OR56A3	390083	broad.mit.edu	37	chr11	5968660	5968660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagatcccccagctggcaGcactggctgtccctgcccct	5	8	10	18	0	1	1	1	0	0	1	3	1	3	1	5	2	3	4	5	2	0	0			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr11:5968660G>A	ENST00000329564.6	+	1	91	c.84G>A	c.(82-84)caG>caA	p.Q28Q		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCTGGCAGCACTGGCTGT	0.537													3	47					0	0	1	0	0	A	5968660	G	A	5968660	2	1	26	1	0	0	0	0	0	0	0	1	11182	962	34	2		2	OR56A3	11	5968660	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		5968660	129037856	13	460											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6439098	6439098	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttgggacagtcaccGggggtataggtggagctgga	10	7	18	6	1	1	0	1	0	0	0	1	3	1	3	1	6	1	4	1	6	3	3			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr12:6439098G>A	ENST00000162749.2	-	9	1202	c.903C>T	c.(901-903)ccC>ccT	p.P301P	TNFRSF1A_ENST00000540022.1_Silent_p.P258P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	301					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GACAGTCACCGGGGGTATAGG	0.652													5	3					0	0	1	0	0	A	6439098	G	A	6439098	2	1	26	1	0	0	0	0	0	0	0	1	16353	1103	39	1		1	TNFRSF1A	12	6439098	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		6439098	127412797	14	461											
DMXL2	23312	broad.mit.edu	37	chr15	51791218	51791219	+	Frame_Shift_Ins	INS	-	-	A																															cctttgctgtactgccacttINSacactaatagttcgagagag																										TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr15:51791218_51791219insA	ENST00000251076.5	-	18	4489_4490	c.4202_4203insT	c.(4201-4203)gtafs	p.V1401fs	DMXL2_ENST00000543779.2_Frame_Shift_Ins_p.V1401fs|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1401						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)		TACTGCCACTTACACTAATAGT	0.406													79	114	---	---	---	---						A	51791219	-	A	51791218	7	5	26	1	0	1	1	0	0	0	0	0	4623	1741	61	0	5014	0	DMXL2	15	51791218	Frame_Shift_Ins	INS	-	TCGA-V4-A9EX-01A-11D-A39W-08		51791218	50740174	15	462											
NFATC2	4773	broad.mit.edu	37	chr20	50090554	50090554	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagtctgtaaagagacGattctgccactggactctgg	10	10	12	9	1	3	1	0	0	3	1	3	5	3	2	1	2	2	2	1	2	2	2			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr20:50090554G>T	ENST00000371564.3	-	5	1890	c.1671C>A	c.(1669-1671)atC>atA	p.I557I	NFATC2_ENST00000609507.1_Silent_p.I338I|NFATC2_ENST00000414705.1_Silent_p.I537I|NFATC2_ENST00000396009.3_Silent_p.I557I|NFATC2_ENST00000610033.1_Silent_p.I338I|NFATC2_ENST00000609943.1_Silent_p.I537I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	557	RHD.				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		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)					GTAAAGAGACGATTCTGCCAC	0.567													3	38					1	1	1	1	0	T	50090554	G	T	50090554	2	4	26	1	0	0	0	0	0	0	0	1	10409	1048	37	5		5	NFATC2	20	50090554	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		50090554	12934966	16	463											
CHD5	26038	broad.mit.edu	37	chr1	6214772	6214772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaggctggggcacctgCggggggctgacggctagcgg	5	4	21	11	3	0	1	0	1	0	0	0	1	0	1	1	9	2	5	1	9	1	1	rs141326175		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:6214772C>T	ENST00000262450.3	-	5	792	c.693G>A	c.(691-693)ccG>ccA	p.P231P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	231					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)		GGGGCACCTGCGGGGGGCTGA	0.687													29	33					0	0	1	0	0	T	6214772	C	T	6214772	2	4	27	1	0	0	0	0	0	0	0	1	3350	755	27	1		1	CHD5	1	6214772	Silent	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		6214772	243035849	1	464											
DNAJC8	22826	broad.mit.edu	37	chr1	28555506	28555506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgatttttcgaagttagaAccgagtctctcttctctatt	8	18	6	9	2	4	2	0	1	4	1	7	4	4	2	1	0	1	1	1	0	4	6			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:28555506A>G	ENST00000263697.4	-	2	133	c.107T>C	c.(106-108)gTt>gCt	p.V36A	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	36					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTTAGAACCGAGTCTCT	0.353													43	52					0	0	1	0	0	G	28555506	A	G	28555506	3	3	27	1	0	0	0	0	1	0	0	0	4682	43	2	4	686	4	DNAJC8	1	28555506	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08	22340734	28555506	220695115	2	465											
MRPL24	79590	broad.mit.edu	37	chr1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactttgccctgcttcccgGcatccttgccttctaggatc	4	13	7	17	1	1	0	0	0	1	0	4	1	3	1	5	2	3	2	5	2	1	5			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567													4	157					0	0	1	0	0	A	156708205	G	A	156708205	3	1	27	1	0	0	0	0	1	0	0	0	9839	1203	42	2	457	2	MRPL24	1	156708205	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	128152699	156708205	92542416	3	466											
KRCC1	51315	broad.mit.edu	37	chr2	88327530	88327530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtctaagtcaatttcctCgcagcttttttttctcttat	6	22	4	9	1	3	0	1	0	2	0	6	0	4	0	1	0	1	2	1	0	3	8	rs61734751	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:88327530C>T	ENST00000347055.3	-	4	946	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	185	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCAATTTCCTCGCAGCTTTTT	0.408													21	61					0	0	1	0	0	T	88327530	C	T	88327530	3	4	27	1	0	0	0	0	1	0	0	0	8484	893	31	1	230	1	KRCC1	2	88327530	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		88327530	154871843	4	467											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459605	107459605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgggcaccaggcgccGccagcccagcgcagaaaagg	10	0	15	16	5	0	1	0	0	0	1	0	1	0	1	4	4	2	2	4	4	2	0			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:107459605G>A	ENST00000409382.3	-	2	1439	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	277					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCAGGCGCCGCCAGCCCAGC	0.731													5	2					0	0	1	0	0	A	107459605	G	A	107459605	3	1	27	1	0	0	0	0	1	0	0	0	15278	1086	38	1	867	1	ST6GAL2	2	107459605	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	19132075	107459605	135739768	5	468											
EPC2	26122	broad.mit.edu	37	chr2	149528843	149528843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggctactaaatttacAggacagtgatagtgaagaat	16	9	10	6	0	0	3	0	2	0	1	0	4	0	4	1	2	2	1	1	2	8	5			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:149528843A>G	ENST00000258484.6	+	10	1641	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	536					chromatin modification|DNA repair|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)		CTAAATTTACAGGACAGTGAT	0.383													45	54					0	0	1	0	0	G	149528843	A	G	149528843	3	3	27	1	0	0	0	0	1	0	0	0	5189	188	7	4	1645	4	EPC2	2	149528843	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08	42069238	149528843	93670530	6	469											
ARPC2	10109	broad.mit.edu	37	chr2	219093472	219093472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcacagatttcgatgggGtcctctatcatatttcaaat	10	15	6	10	1	4	1	3	0	1	1	7	2	6	1	2	2	0	0	2	2	3	4			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:219093472G>A	ENST00000295685.10	+	3	382	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	41					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTCGATGGGGTCCTCTATCA	0.413													20	22					0	0	1	0	0	A	219093472	G	A	219093472	3	1	27	1	0	0	0	0	1	0	0	0	970	1261	44	3	131	3	ARPC2	2	219093472	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	69564629	219093472	24105901	7	470											
AMOTL2	51421	broad.mit.edu	37	chr3	134076564	134076564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcagatcagtatctccaCcatgtctgacaagtcctgga	10	11	7	13	0	4	2	2	1	2	1	6	3	5	3	4	1	0	1	4	1	2	2			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr3:134076564C>T	ENST00000514516.1	-	10	2675	c.2497G>A	c.(2497-2499)Gtg>Atg	p.V833M	AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000422605.2_Missense_Mutation_p.V775M	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	775										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTATCTCCACCATGTCTGAC	0.507													52	94					0	0	1	0	0	T	134076564	C	T	134076564	3	4	27	1	0	0	0	0	1	0	0	0	580	507	18	3	20	3	AMOTL2	3	134076564	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		134076564	63945866	8	471											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	8	7	26	0	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	3	3			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522													3	10					0	0	1	0	0	G	164050124	T	G	164050124	2	3	27	1	0	0	0	0	0	0	0	1	10188	1683	59	5		5	NAF1	4	164050124	Silent	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		164050124	27104152	9	472											
APC	324	broad.mit.edu	37	chr5	112170678	112170678	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaagcgtattgagtgccTtatggaatttgtcagcacat	12	13	9	7	1	2	1	2	1	0	0	2	2	2	2	1	1	3	2	1	1	5	4			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr5:112170678T>G	ENST00000457016.1	+	15	2154	c.1774T>G	c.(1774-1776)Tta>Gta	p.L592V	APC_ENST00000508376.2_Missense_Mutation_p.L592V|APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	592	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	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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.?(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)		ATTGAGTGCCTTATGGAATTT	0.388		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)			38	41					0	0	1	0	0	G	112170678	T	G	112170678	3	3	27	1	0	0	0	0	1	0	0	0	759	1606	56	5	1828	5	APC	5	112170678	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		112170678	68744582	10	473											
RELN	5649	broad.mit.edu	37	chr7	103205756	103205756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggtagacagtgatccGcttccaattctggaatcttt	10	13	10	8	1	2	2	0	1	2	1	4	4	4	4	2	3	0	2	2	3	4	4			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr7:103205756G>C	ENST00000424685.2	-	34	5338	c.5179C>G	c.(5179-5181)Cgg>Ggg	p.R1727G	RELN_ENST00000428762.1_Missense_Mutation_p.R1727G|RELN_ENST00000343529.5_Missense_Mutation_p.R1727G			P78509	RELN_HUMAN	reelin	1727					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	p.R1727W(1)		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)		ACAGTGATCCGCTTCCAATTC	0.438													4	82					0	0	1	0	0	C	103205756	G	C	103205756	3	2	27	1	0	0	0	0	1	0	0	0	13272	1086	38	5	5331	5	RELN	7	103205756	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		103205756	55932907	11	474											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								50	44					0	0	1	0	0	G	80409488	T	G	80409488	3	3	27	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		80409488	60803943	12	475											
SNAPC4	6621	broad.mit.edu	37	chr9	139276418	139276418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcgccgctgcccactCtgggtggctctgtgccgtag	3	9	13	16	3	2	0	0	0	2	0	3	0	3	0	4	2	3	3	4	2	1	1			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:139276418C>A	ENST00000298532.2	-	17	2543	c.2175G>T	c.(2173-2175)caG>caT	p.Q725H		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	725					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	p.Q725H(1)		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)		GCTGCCCACTCTGGGTGGCTC	0.677													13	17					0.000151284	0.000156012	1	1	0	A	139276418	C	A	139276418	3	1	27	1	0	0	0	0	1	0	0	0	14891	912	32	5	2258	5	SNAPC4	9	139276418	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08	58866930	139276418	1937013	13	476											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	11	10	10	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	4	3			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1		PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|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)		TCATCCCAAAAGGGGTAGCAA	0.448													3	65					0	0	1	0	0	G	128426243	A	G	128426243	3	3	27	1	0	0	0	0	1	0	0	0	5303	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08		128426243	6580273	14	477											
DNAH10	196385	broad.mit.edu	37	chr12	124257432	124257432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctccacatgctctgtaccCctcttcccgaggagttcctg	6	12	7	16	1	3	0	0	0	3	0	6	2	5	1	5	1	2	3	5	1	1	3			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr12:124257432C>T	ENST00000409039.3	+	4	290	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	89	Stem (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)		GCTCTGTACCCCTCTTCCCGA	0.458													4	158					0	0	1	0	0	T	124257432	C	T	124257432	3	4	27	1	0	0	0	0	1	0	0	0	4626	623	22	3	279	3	DNAH10	12	124257432	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		124257432	9594463	15	478											
PTGER2	5732	broad.mit.edu	37	chr14	52781318	52781318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgcgagacgcgacagTggcttcccccaggcgaaagc	10	4	14	13	4	0	1	0	0	0	1	1	5	1	2	2	3	2	1	2	3	1	1			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:52781318T>C	ENST00000245457.5	+	1	206	c.52T>C	c.(52-54)Tgg>Cgg	p.W18R	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	18						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GACGCGACAGTGGCTTCCCCC	0.652													13	24					0	0	1	0	0	C	52781318	T	C	52781318	3	2	27	1	0	0	0	0	1	0	0	0	12793	1696	59	4	54	4	PTGER2	14	52781318	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		52781318	54568222	16	479											
RASL12	51285	broad.mit.edu	37	chr15	65347374	65347374	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggtggagagcgtgtTgaaggtgcagctggccagcc	7	9	18	7	1	0	3	0	2	0	1	0	4	0	3	2	4	4	4	2	4	1	2			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr15:65347374T>G	ENST00000220062.4	-	5	940	c.664A>C	c.(664-666)Aac>Cac	p.N222H	RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	222					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GAGAGCGTGTTGAAGGTGCAG	0.682													14	19					0	0	1	0	0	G	65347374	T	G	65347374	3	3	27	1	0	0	0	0	1	0	0	0	13135	1812	63	5	140	5	RASL12	15	65347374	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		65347374	37184018	17	480											
SHPK	23729	broad.mit.edu	37	chr17	3513993	3513993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtcattcctggacagcGcactcccactgcccatcacc	8	7	7	19	2	2	0	2	0	0	0	4	1	4	1	4	1	2	2	4	1	0	1			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr17:3513993G>A	ENST00000225519.3	-	7	1400	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	433					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)		CCTGGACAGCGCACTCCCACT	0.612													60	55					0	0	1	0	0	A	3513993	G	A	3513993	3	1	27	1	0	0	0	0	1	0	0	0	14345	1087	38	1	142	1	SHPK	17	3513993	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		3513993	77681217	18	481											
LILRA3	0	broad.mit.edu	37	chr19	54802705	54802705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccggcatcagagccacActggaaggtcagcttctccc	9	7	11	14	1	3	1	2	0	1	1	4	2	3	2	3	3	3	3	3	3	2	2			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr19:54802705A>T	ENST00000391745.1	-	9	1103	c.787T>A	c.(787-789)Tgt>Agt	p.C263S	LILRA3_ENST00000251390.3_Missense_Mutation_p.C246S|LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGAGCCACACTGGAAGGTC	0.602													19	35					0	0	1	0	0	T	54802705	A	T	54802705	3	4	27	1	0	0	0	0	1	0	0	0	8826	159	6	5	595	5	LILRA3	19	54802705	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08		54802705	4326278	19	482											
ELMO2	63916	broad.mit.edu	37	chr20	45014869	45014869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggatggccagggacctctGaaggattgacacgtccacca	11	6	12	12	1	1	2	0	2	1	0	2	5	2	5	4	4	0	0	4	4	1	1			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr20:45014869G>C	ENST00000372176.1	-	9	775	c.307C>G	c.(307-309)Cag>Gag	p.Q103E	ELMO2_ENST00000290246.6_Missense_Mutation_p.Q191E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	191					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGGGACCTCTGAAGGATTGAC	0.527													21	56					0	0	1	0	0	C	45014869	G	C	45014869	3	2	27	1	0	0	0	0	1	0	0	0	5094	1299	45	5	1647	5	ELMO2	20	45014869	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		45014869	18010651	20	483											
EIF1AX	1964	broad.mit.edu	37	chrX	20156735	20156735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtctgtttttacctcCtttacctgatggtttaaaaa	8	17	6	10	1	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	5	7			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308													41	58					0	0	1	0	0	T	20156735	C	T	20156735	3	4	27	1	0	0	0	0	1	0	0	0	5018	690	24	3	436	3	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		20156735	135113825	21	484											
HUWE1	10075	broad.mit.edu	37	chrX	53589168	53589170	+	In_Frame_Del	DEL	CTC	CTC	-																															ctgtcctcttcctgagtgtgCtcctcctcatcctcagggtc																										TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:53589168_53589170delCTC	ENST00000342160.3	-	53	7697_7699	c.7240_7242delGAG	c.(7240-7242)gagdel	p.E2414del	HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2414	Glu-rich.				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						CCTGAGTGTGCTCCTCCTCATCC	0.493													15	50	---	---	---	---						-	53589170	CTC	-	53589168	7	5	27	1	0	1	0	1	0	0	0	0	7505	796	28	0	6006	0	HUWE1	23	53589168	In_Frame_Del	DEL	CTC	TCGA-V4-A9EY-01A-11D-A39W-08	33432433	53589168	101681392	22	485											
PYCR2	29920	broad.mit.edu	37	chr1	226108959	226108959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgagcagagagcggaagCccccactctctagaaagtgc	12	6	12	11	1	1	4	0	2	1	2	2	6	1	5	2	1	4	1	2	1	3	1			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr1:226108959C>T	ENST00000343818.6	-	6	894	c.746G>A	c.(745-747)gGc>gAc	p.G249D	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.G175D	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	249					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	AGAGCGGAAGCCCCCACTCTC	0.592													23	24					0	0	1	0	0	T	226108959	C	T	226108959	3	4	28	1	0	0	0	0	1	0	0	0	12908	739	26	2	224	2	PYCR2	1	226108959	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		226108959	23141662	1	486											
HAT1	8520	broad.mit.edu	37	chr2	172841177	172841177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttgccctgtttttcccGggaaaaattaatgcaaggat	12	13	9	7	1	0	1	0	0	0	1	1	3	1	3	2	2	2	2	2	2	4	4			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:172841177G>A	ENST00000264108.4	+	9	941	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R217Q	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	302					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGTTTTTCCCGGGAAAAATTA	0.353													5	63					0	0	1	0	0	A	172841177	G	A	172841177	3	1	28	1	0	0	0	0	1	0	0	0	7005	1116	39	1	939	1	HAT1	2	172841177	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		172841177	70358196	2	487											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								31	40					0	0	1	0	0	T	198267483	C	T	198267483	3	4	28	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	25426306	198267483	44931890	3	488											
TMEM39A	55254	broad.mit.edu	37	chr3	119156948	119156948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaggaacataaacaccaAacctgtaaaacaaagtgtga	22	5	7	7	0	0	2	0	1	0	1	0	3	0	3	2	1	4	1	2	1	8	2			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119156948A>T	ENST00000319172.5	-	6	998	c.578T>A	c.(577-579)tTt>tAt	p.F193Y	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	193						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATAAACACCAAACCTGTAAAA	0.363													15	16					0	0	1	0	0	T	119156948	A	T	119156948	3	4	28	1	0	0	0	0	1	0	0	0	16221	14	1	5	904	5	TMEM39A	3	119156948	Missense_Mutation	SNP	A	TCGA-V4-A9EZ-01A-11D-A39W-08		119156948	78865482	4	489											
PLA1A	51365	broad.mit.edu	37	chr3	119347699	119347699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttctgcactgcccttttgCctgtcaatgacaggtaagcc	8	12	9	12	0	2	1	1	1	1	0	2	1	2	1	3	1	4	3	3	1	2	4			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119347699C>T	ENST00000273371.4	+	10	1345	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P409S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P252S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P409S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	425	Involved in the recognition of diacyl- phospholipids.				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						TGCCCTTTTGCCTGTCAATGA	0.453													4	123					0	0	1	0	0	T	119347699	C	T	119347699	3	4	28	1	0	0	0	0	1	0	0	0	12036	739	26	2	1311	2	PLA1A	3	119347699	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	190751	119347699	78674731	5	490											
PPID	5481	broad.mit.edu	37	chr4	159638314	159638314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagaaccgtttgtgttgcgGcctgcatttgccatgctcag	6	13	12	10	2	1	1	1	1	0	1	1	2	1	1	3	1	5	4	3	1	1	3			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr4:159638314G>A	ENST00000307720.3	-	4	479	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	124	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)		TTGTGTTGCGGCCTGCATTTG	0.393													26	53					0	0	1	0	0	A	159638314	G	A	159638314	2	1	28	1	0	0	0	0	0	0	0	1	12370	1190	42	2		2	PPID	4	159638314	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		159638314	31515962	6	491											
TNS3	64759	broad.mit.edu	37	chr7	47440411	47440411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtccagatcctccttcCcaaacaccagcccgtagccc	9	8	5	19	1	0	1	0	0	0	1	4	1	4	1	7	0	3	1	7	0	2	3			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:47440411C>G	ENST00000398879.1	-	14	1190	c.824G>C	c.(823-825)gGg>gCg	p.G275A	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.G275A			Q68CZ2	TENS3_HUMAN	tensin 3	275	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATCCTCCTTCCCAAACACCAG	0.582													11	41					0	0	1	0	0	G	47440411	C	G	47440411	3	3	28	1	0	0	0	0	1	0	0	0	16404	623	22	5	3585	5	TNS3	7	47440411	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		47440411	111698252	7	492											
ZNF479	90827	broad.mit.edu	37	chr7	57188369	57188369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagtaaggtttgcagaccaGctaaaggctttgccacattc	11	11	9	10	0	0	1	0	0	0	1	1	1	0	1	2	2	3	5	2	2	4	6			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:57188369G>A	ENST00000331162.4	-	5	1023	c.753C>T	c.(751-753)agC>agT	p.S251S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGCAGACCAGCTAAAGGCTT	0.428													18	19					0	0	1	0	0	A	57188369	G	A	57188369	2	1	28	1	0	0	0	0	0	0	0	1	17990	962	34	2		2	ZNF479	7	57188369	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	9747958	57188369	101950294	8	493											
COL14A1	7373	broad.mit.edu	37	chr8	121216019	121216019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcactcatgtgtacaatGttgccgaattcgatctgatg	11	12	9	9	2	2	1	1	1	1	0	3	3	2	1	1	0	3	3	1	0	3	3			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr8:121216019G>A	ENST00000297848.3	+	9	1219	c.949G>A	c.(949-951)Gtt>Att	p.V317I	COL14A1_ENST00000247781.3_Missense_Mutation_p.V222I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V317I|COL14A1_ENST00000537875.1_Missense_Mutation_p.V317I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	317	VWFA 1.				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)			TGTGTACAATGTTGCCGAATT	0.463													12	46					0	0	1	0	0	A	121216019	G	A	121216019	3	1	28	1	0	0	0	0	1	0	0	0	3694	1377	48	3	979	3	COL14A1	8	121216019	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		121216019	25148003	9	494											
TMEM2	23670	broad.mit.edu	37	chr9	74312944	74312944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtccagtgagcatggccGgcatccgcttgaccactgac	9	7	12	13	2	0	4	0	3	0	1	2	4	2	4	4	2	1	3	4	2	0	1			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:74312944G>A	ENST00000377044.4	-	20	4093	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P1122L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P178L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1185						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)		GAGCATGGCCGGCATCCGCTT	0.512													3	54					0	0	1	0	0	A	74312944	G	A	74312944	3	1	28	1	0	0	0	0	1	0	0	0	16181	1116	39	1	617	1	TMEM2	9	74312944	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		74312944	66900487	10	495											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								43	33					0	0	1	0	0	G	80409488	T	G	80409488	3	3	28	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EZ-01A-11D-A39W-08	6096544	80409488	60803943	11	496											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112899621	112899621	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactcagacaagccactGactaatccgagaccaccttc	13	7	6	15	1	2	3	2	1	0	2	4	4	3	3	4	0	2	0	4	0	3	2			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:112899621G>T	ENST00000374530.3	+	8	1977	c.1797G>T	c.(1795-1797)ctG>ctT	p.L599L	AKAP2_ENST00000555236.1_Silent_p.L599L|AKAP2_ENST00000510514.5_Silent_p.L599L|AKAP2_ENST00000374525.1_Silent_p.L457L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L599L|AKAP2_ENST00000434623.2_Silent_p.L457L|AKAP2_ENST00000259318.7_Silent_p.L368L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		368							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						ACAAGCCACTGACTAATCCGA	0.602													24	46					2.41591e-17	2.60664e-17	1	1	0	T	112899621	G	T	112899621	2	4	28	1	0	0	0	0	0	0	0	1	11457	1277	45	5		5	PALM2-AKAP2	9	112899621	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	32490133	112899621	28313810	12	497											
MYOF	26509	broad.mit.edu	37	chr10	95191210	95191210	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagggagatcagcttgtaCggcagggatctgctctggtc	8	9	15	9	1	3	1	1	0	2	1	4	3	3	2	0	4	4	5	0	4	1	2			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr10:95191210C>T	ENST00000371501.4	-	4	422	c.300G>A	c.(298-300)ccG>ccA	p.P100P	MYOF_ENST00000371502.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P|MYOF_ENST00000358334.5_Silent_p.P100P|MYOF_ENST00000359263.4_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P			Q9NZM1	MYOF_HUMAN	myoferlin	100					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						TCAGCTTGTACGGCAGGGATC	0.468													27	32					0	0	1	0	0	T	95191210	C	T	95191210	2	4	28	1	0	0	0	0	0	0	0	1	10137	523	19	1		1	MYOF	10	95191210	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		95191210	40343537	13	498											
CAT	847	broad.mit.edu	37	chr11	34489856	34489856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcattctatgtgaacGtgctgaatgaggaacagagg	11	9	15	6	2	1	4	0	3	1	1	1	5	1	5	0	3	4	2	0	3	4	2			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:34489856G>A	ENST00000241052.4	+	11	1437	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	450					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTATGTGAACGTGCTGAATGA	0.443													62	87					0	0	1	0	0	A	34489856	G	A	34489856	3	1	28	1	0	0	0	0	1	0	0	0	2704	1145	40	1	1390	1	CAT	11	34489856	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		34489856	100516660	14	499											
OR8A1	390275	broad.mit.edu	37	chr11	124440297	124440297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaaacatcatctcctaCgcagggtgcatgtcacagct	13	8	9	11	1	3	1	2	0	1	1	4	2	3	1	1	1	4	3	1	1	3	1	rs61748716	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:124440297C>T	ENST00000284287.3	+	1	405	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y111Y(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|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;0.0214)		TCATCTCCTACGCAGGGTGCA	0.473													36	47					0	0	1	0	0	T	124440297	C	T	124440297	2	4	28	1	0	0	0	0	0	0	0	1	11272	547	19	1		1	OR8A1	11	124440297	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	89950441	124440297	10566219	15	500											
NECAP1	25977	broad.mit.edu	37	chr12	8248277	8248277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtaagcaatgacttgtggGgagacttcagcactgcctcc	9	10	11	11	0	1	2	1	1	0	1	2	3	2	2	2	2	3	3	2	2	2	3			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr12:8248277G>A	ENST00000339754.5	+	7	835	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	253					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TGACTTGTGGGGAGACTTCAG	0.428													42	72					0	0	1	0	0	A	8248277	G	A	8248277	3	1	28	1	0	0	0	0	1	0	0	0	10354	1233	43	3	783	3	NECAP1	12	8248277	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		8248277	125603618	16	501											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524545	10524545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgcccctaagttgccGgaagcaagtagagatgctga	13	7	12	9	1	0	2	0	1	0	1	0	5	0	3	3	1	4	4	3	1	5	3	rs150059548	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr16:10524545G>A	ENST00000396560.2	+	3	295	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTAAGTTGCCGGAAGCAAGTA	0.393													3	74					0	0	1	0	0	A	10524545	G	A	10524545	3	1	28	1	0	0	0	0	1	0	0	0	1087	1116	39	1	70	1	ATF7IP2	16	10524545	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		10524545	79830208	17	502											
ALOX15	246	broad.mit.edu	37	chr17	4536775	4536775	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttaatttccagggtgtaTcgcaggtggggaattataag	11	12	13	5	2	0	0	0	0	0	0	2	1	1	1	1	4	0	3	1	4	5	5			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:4536775T>A	ENST00000570836.1	-	10	1278	c.1182A>T	c.(1180-1182)cgA>cgT	p.R394R	ALOX15_ENST00000574640.1_Silent_p.R355R|ALOX15_ENST00000545513.1_Silent_p.R416R|ALOX15_ENST00000293761.3_Silent_p.R394R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	394	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCAGGGTGTATCGCAGGTGGG	0.537													31	84					0	0	1	0	0	A	4536775	T	A	4536775	2	1	28	1	0	0	0	0	0	0	0	1	534	1422	50	5		5	ALOX15	17	4536775	Silent	SNP	T	TCGA-V4-A9EZ-01A-11D-A39W-08		4536775	76658435	18	503											
SLFN11	91607	broad.mit.edu	37	chr17	33679640	33679640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccacttcttttgcggtgCtgacaagcacagcaacatcc	9	10	8	14	1	1	1	0	1	1	0	3	1	3	1	2	1	5	4	2	1	2	3			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:33679640C>T	ENST00000394566.1	-	7	2713	c.2441G>A	c.(2440-2442)aGc>aAc	p.S814N	SLFN11_ENST00000308377.4_Missense_Mutation_p.S814N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	814						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGCGGTGCTGACAAGCAC	0.463													22	33					0	0	1	0	0	T	33679640	C	T	33679640	3	4	28	1	0	0	0	0	1	0	0	0	14788	797	28	2	268	2	SLFN11	17	33679640	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	29142865	33679640	47515570	19	504											
DSC1	1823	broad.mit.edu	37	chr18	28712574	28712574	+	Frame_Shift_Del	DEL	T	T	-																															cagtatttgatacaattaaaTtttgctgggctatgtcttct																										TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr18:28712574delT	ENST00000257197.3	-	14	2456	c.2195delA	c.(2194-2196)aatfs	p.N732fs	DSC1_ENST00000257198.5_Frame_Shift_Del_p.N732fs|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	732					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACAATTAAATTTTGCTGGGC	0.343													30	55	---	---	---	---						-	28712574	T	-	28712574	7	5	28	1	0	1	0	1	0	0	0	0	4791	1493	52	0	541	0	DSC1	18	28712574	Frame_Shift_Del	DEL	T	TCGA-V4-A9EZ-01A-11D-A39W-08		28712574	49364674	20	505											
KANK3	256949	broad.mit.edu	37	chr19	8389559	8389559	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggctgggtgagcagcagCcgcacggtgtccaggcgccc	5	5	16	15	3	0	1	0	1	0	0	1	1	1	1	4	4	3	4	4	4	0	0			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:8389559C>T	ENST00000330915.3	-	9	2303	c.2238G>A	c.(2236-2238)cgG>cgA	p.R746R	KANK3_ENST00000593649.1_Silent_p.R746R	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	746										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGAGCAGCAGCCGCACGGTGT	0.637													26	48					0	0	1	0	0	T	8389559	C	T	8389559	2	4	28	1	0	0	0	0	0	0	0	1	8022	726	26	2		2	KANK3	19	8389559	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		8389559	50739424	21	506											
OPA3	80207	broad.mit.edu	37	chr19	46056952	46056952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacctcgtcccgcagcgcGttccaggcagcacgctgctc	5	6	10	20	5	0	0	0	0	0	0	4	0	2	0	4	1	3	6	4	1	0	1			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:46056952G>A	ENST00000263275.4	-	2	414	c.360C>T	c.(358-360)aaC>aaT	p.N120N	OPA3_ENST00000544371.1_Silent_p.N67N|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	120					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCGCAGCGCGTTCCAGGCAG	0.721													3	32					0	0	1	0	0	A	46056952	G	A	46056952	2	1	28	1	0	0	0	0	0	0	0	1	10920	1136	40	1		1	OPA3	19	46056952	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	37667393	46056952	13072031	22	507											
TGM2	7052	broad.mit.edu	37	chr20	36760851	36760851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgatgaggttggactccGtaaggcagtcacggtatttc	8	12	12	9	2	1	2	1	2	0	0	3	3	2	3	2	4	0	4	2	4	2	5			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:36760851G>A	ENST00000361475.2	-	11	1840	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	TGM2_ENST00000536701.1_Missense_Mutation_p.T475M|TGM2_ENST00000536724.1_Missense_Mutation_p.T496M	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	556					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTTGGACTCCGTAAGGCAGTC	0.542													4	237					0	0	1	0	0	A	36760851	G	A	36760851	3	1	28	1	0	0	0	0	1	0	0	0	15890	1145	40	1	408	1	TGM2	20	36760851	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		36760851	26264669	23	508											
CDH4	1002	broad.mit.edu	37	chr20	60511888	60511888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctccaccgcaggctccGtcagctccctgaactcatcc	6	7	9	19	3	2	1	2	1	0	0	6	1	6	1	5	2	2	4	5	2	1	0			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:60511888G>A	ENST00000360469.5	+	16	2726	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	CDH4_ENST00000543233.1_Missense_Mutation_p.V806I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	880	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding	p.V880I(1)		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)			CGCAGGCTCCGTCAGCTCCCT	0.632													3	29					0	0	1	0	0	A	60511888	G	A	60511888	3	1	28	1	0	0	0	0	1	0	0	0	3134	1145	40	1	2700	1	CDH4	20	60511888	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	23751037	60511888	2513632	24	509											
SERPIND1	3053	broad.mit.edu	37	chr22	21134429	21134429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagggcctcataaaagatGctctggagaatatagaccct	14	8	9	10	0	2	3	1	0	1	3	2	4	2	3	3	2	1	1	3	2	6	3			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr22:21134429G>C	ENST00000215727.5	+	2	1112	c.829G>C	c.(829-831)Gct>Cct	p.A277P	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A277P	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	277					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CATAAAAGATGCTCTGGAGAA	0.453													143	150					0	0	1	0	0	C	21134429	G	C	21134429	3	2	28	1	0	0	0	0	1	0	0	0	14164	1319	46	5	831	5	SERPIND1	22	21134429	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		21134429	30170137	25	510											
APEX2	27301	broad.mit.edu	37	chrX	55033295	55033295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctctgtgcacccgcttCctccctgagtttgcaggcac	5	10	8	18	1	1	1	0	1	1	0	3	1	3	1	5	1	2	5	5	1	0	2			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:55033295C>A	ENST00000374987.3	+	6	1050	c.984C>A	c.(982-984)ttC>ttA	p.F328L		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	328					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCACCCGCTTCCTCCCTGAGT	0.572								Other BER factors					15	36					3.27435e-08	3.44227e-08	1	1	0	A	55033295	C	A	55033295	3	1	28	1	0	0	0	0	1	0	0	0	766	854	30	5	1006	5	APEX2	23	55033295	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		55033295	100237265	26	511											
ARHGAP4	393	broad.mit.edu	37	chrX	153175798	153175798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaccggtagcagcgtgggCccgaagcacacggccaggtt	8	4	16	13	4	0	0	0	0	0	0	0	1	0	0	3	5	3	5	3	5	2	2			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:153175798C>T	ENST00000370028.3	-	18	2160	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Silent_p.G483G|ARHGAP4_ENST00000350060.5_Silent_p.G661G|ARHGAP4_ENST00000370016.1_Silent_p.G640G|ARHGAP4_ENST00000537206.1_Silent_p.G638G	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	661					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	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)					GCAGCGTGGGCCCGAAGCACA	0.672													23	24					0	0	1	0	0	T	153175798	C	T	153175798	2	4	28	1	0	0	0	0	0	0	0	1	882	726	26	2		2	ARHGAP4	23	153175798	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	98142503	153175798	2094762	27	512											
GNB1	2782	broad.mit.edu	37	chr1	1718829	1718829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccacagccatgccatcgtCagtcacgcccaggcagctga	9	5	10	17	3	2	1	2	1	0	0	3	1	2	1	4	1	3	2	4	1	0	0			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr1:1718829C>G	ENST00000378609.4	-	11	1295	c.964G>C	c.(964-966)Gac>Cac	p.D322H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	322					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ATGCCATCGTCAGTCACGCCC	0.567													13	27					0	0	1	0	0	G	1718829	C	G	1718829	3	3	29	1	0	0	0	0	1	0	0	0	6557	826	29	5	62	5	GNB1	1	1718829	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		1718829	247531792	1	513											
TRIM67	440730	broad.mit.edu	37	chr1	231299743	231299743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagccgctgggggccaTgtggaagcagcacaaggtga	10	5	18	8	1	0	2	0	2	0	0	0	3	0	3	2	5	3	3	2	5	3	0			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr1:231299743T>C	ENST00000444294.3	+	1	1886	c.1028T>C	c.(1027-1029)aTg>aCg	p.M343T	TRIM67_ENST00000449018.3_Missense_Mutation_p.M281T|TRIM67_ENST00000366652.2_Missense_Mutation_p.M343T|TRIM67_ENST00000366653.5_Missense_Mutation_p.M343T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	343						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)				CTGGGGGCCATGTGGAAGCAG	0.627													3	8					0	0	1	0	0	C	231299743	T	C	231299743	3	2	29	1	0	0	0	0	1	0	0	0	16601	1464	51	4	1030	4	TRIM67	1	231299743	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08	229580914	231299743	17950878	2	514											
PKP4	8502	broad.mit.edu	37	chr2	159499162	159499162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatacctgccttgttGcgactgttgagaaaatctat	9	13	12	7	1	1	1	0	1	1	1	1	4	1	2	2	2	3	2	2	2	4	5			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr2:159499162G>C	ENST00000389757.3	+	11	1985	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	PKP4_ENST00000389759.3_Missense_Mutation_p.L620F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	620					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						CTGCCTTGTTGCGACTGTTGA	0.413										HNSCC(62;0.18)			3	64					0	0	1	0	0	C	159499162	G	C	159499162	3	2	29	1	0	0	0	0	1	0	0	0	12035	1310	46	5	1898	5	PKP4	2	159499162	Missense_Mutation	SNP	G	TCGA-V4-A9F0-01A-11D-A39W-08		159499162	83700211	3	515											
BAP1	8314	broad.mit.edu	37	chr3	52437795	52437795	+	Frame_Shift_Del	DEL	G	G	-																															aggaattgagaggtccttctGggactctttgagcttctcag																										TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:52437795delG	ENST00000460680.1	-	13	1837	c.1366delC	c.(1366-1368)cagfs	p.Q456fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q438fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	456					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		AGGTCCTTCTGGGACTCTTTG	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							20	4	---	---	---	---						-	52437795	G	-	52437795	7	5	29	1	0	1	0	1	0	0	0	0	1309	1357	47	0	843	0	BAP1	3	52437795	Frame_Shift_Del	DEL	G	TCGA-V4-A9F0-01A-11D-A39W-08		52437795	145584635	4	516											
AP2M1	1173	broad.mit.edu	37	chr3	183894841	183894841	+	Frame_Shift_Del	DEL	C	C	-																															gtgctcatctcccgagtctaCcgagatgacatcgggtgagt																										TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:183894841delC	ENST00000382456.3	+	2	374	c.60delC	c.(58-60)tacfs	p.Y20fs	AP2M1_ENST00000292807.5_Frame_Shift_Del_p.Y20fs|AP2M1_ENST00000439647.1_Frame_Shift_Del_p.Y20fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Frame_Shift_Del_p.Y20fs	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	20					axon guidance|cellular membrane organization|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|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGAGTCTACCGAGATGACA	0.587													2	4	---	---	---	---						-	183894841	C	-	183894841	7	5	29	1	0	1	0	1	0	0	0	0	738	518	18	0	62	0	AP2M1	3	183894841	Frame_Shift_Del	DEL	C	TCGA-V4-A9F0-01A-11D-A39W-08	131457046	183894841	14127589	5	517											
TNIP1	10318	broad.mit.edu	37	chr5	150411884	150411884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgggagggtccatcaCttgggagctctgatttggat	6	12	16	7	0	2	1	1	1	1	0	3	4	3	4	1	5	1	2	1	5	0	2			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr5:150411884C>G	ENST00000389378.2	-	17	2428	c.1840G>C	c.(1840-1842)Gtg>Ctg	p.V614L	TNIP1_ENST00000520931.1_Missense_Mutation_p.V561L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000315050.7_Missense_Mutation_p.V614L|TNIP1_ENST00000522226.1_Missense_Mutation_p.V614L|TNIP1_ENST00000518977.1_Missense_Mutation_p.V614L|TNIP1_ENST00000523200.1_Missense_Mutation_p.V550L|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.V614L|TNIP1_ENST00000523338.1_Missense_Mutation_p.V614L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	614	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			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)			GGGTCCATCACTTGGGAGCTC	0.517													14	15					0	0	1	0	0	G	150411884	C	G	150411884	3	3	29	1	0	0	0	0	1	0	0	0	16374	565	20	5	78	5	TNIP1	5	150411884	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		150411884	30503376	6	518											
KCNV1	27012	broad.mit.edu	37	chr8	110984746	110984746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctaatgcacacatactccagGatttccagcagctgcaggtc	11	9	8	13	0	0	0	0	0	0	0	3	1	2	1	2	2	5	4	2	2	2	3			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr8:110984746G>C	ENST00000524391.1	-	3	1764	c.732C>G	c.(730-732)atC>atG	p.I244M	KCNV1_ENST00000297404.1_Missense_Mutation_p.I244M			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	244						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATACTCCAGGATTTCCAGCA	0.522													22	51					0	0	1	0	0	C	110984746	G	C	110984746	3	2	29	1	0	0	0	0	1	0	0	0	8138	1164	41	5	778	5	KCNV1	8	110984746	Missense_Mutation	SNP	G	TCGA-V4-A9F0-01A-11D-A39W-08		110984746	35379276	7	519											
TYRP1	7306	broad.mit.edu	37	chr9	12704605	12704606	+	Frame_Shift_Ins	INS	-	-	GG																															atctattcctgaatggaacaINSgggggacaaacccatttgtc																										TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr9:12704605_12704606insGG	ENST00000388918.5	+	6	1290_1291	c.1161_1162insGG	c.(1162-1164)gggfs	p.G388fs	TYRP1_ENST00000381136.2_Frame_Shift_Ins_p.G98fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Ins_p.G97fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	388					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	p.G388W(1)		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)		TGAATGGAACAGGGGGACAAAC	0.465									Oculocutaneous Albinism				22	70	---	---	---	---						GG	12704606	-	GG	12704605	7	5	29	1	0	1	1	0	0	0	0	0	16878	175	7	0	1179	0	TYRP1	9	12704605	Frame_Shift_Ins	INS	-	TCGA-V4-A9F0-01A-11D-A39W-08		12704605	128508826	8	520											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								33	44					0	0	1	0	0	A	80409488	T	A	80409488	3	1	29	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08	67704883	80409488	60803943	9	521											
UBE2N	7334	broad.mit.edu	37	chr12	93804623	93804623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgatagcagaactgtgCggatctgcagtgctggggac	9	8	16	8	2	1	1	0	0	1	1	2	5	1	4	0	4	5	3	0	4	2	1			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:93804623C>T	ENST00000318066.2	-	3	682	c.305G>A	c.(304-306)cGc>cAc	p.R102H	UBE2N_ENST00000549833.1_Missense_Mutation_p.R39H|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000552442.1_Intron	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	102					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						CAGAACTGTGCGGATCTGCAG	0.498								Direct reversal of damage;Rad6 pathway					3	68					0	0	1	0	0	T	93804623	C	T	93804623	3	4	29	1	0	0	0	0	1	0	0	0	16927	768	27	1	161	1	UBE2N	12	93804623	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		93804623	40047272	10	522											
PITPNM2	57605	broad.mit.edu	37	chr12	123476344	123476344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcttgccaggtgggcgCgggaacaggcatactggttt	6	9	15	11	3	1	0	0	0	1	0	1	1	1	1	2	5	3	2	2	5	2	3			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:123476344C>T	ENST00000280562.5	-	16	2711	c.2506G>A	c.(2506-2508)Gcg>Acg	p.A836T	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000542749.1_Intron|PITPNM2_ENST00000320201.4_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	812	DDHD.				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)		CAGGTGGGCGCGGGAACAGGC	0.682													8	13					0	0	1	0	0	T	123476344	C	T	123476344	3	4	29	1	0	0	0	0	1	0	0	0	11999	783	27	1		1	PITPNM2	12	123476344	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08	29671721	123476344	10375551	11	523											
MYO1F	4542	broad.mit.edu	37	chr19	8620657	8620657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcttcacgttgtggctctgCcagtggaagcgctccttgct	4	13	12	12	2	2	0	1	0	1	0	3	1	3	1	2	2	4	5	2	2	1	3			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr19:8620657C>T	ENST00000338257.8	-	2	294	c.27G>A	c.(25-27)tgG>tgA	p.W9*		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	9	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGTGGCTCTGCCAGTGGAAGC	0.642													3	28					0	0	1	0	0	T	8620657	C	T	8620657	4	4	29	1	0	0	0	0	0	1	0	0	10121	740	26	2	3377	2	MYO1F	19	8620657	Nonsense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		8620657	50508326	12	524											
AADACL4	343066	broad.mit.edu	37	chr1	12711246	12711246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaacttgtggtgaccgaCctgcgttttgggacgatacc	7	11	12	11	3	0	2	0	2	0	0	0	5	0	3	4	2	3	1	4	2	2	4			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:12711246C>T	ENST00000376221.1	+	2	273	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	91						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGGTGACCGACCTGCGTTTTG	0.493													41	52					0	0	1	0	0	T	12711246	C	T	12711246	2	4	30	1	0	0	0	0	0	0	0	1	13	506	18	3		3	AADACL4	1	12711246	Silent	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		12711246	236539375	1	525											
RPL11	6135	broad.mit.edu	37	chr1	24019228	24019229	+	Frame_Shift_Ins	INS	-	-	AG																															gttggagcagctcacagggcINSagacccctgtgttttccaaa																										TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:24019228_24019229insAG	ENST00000374550.3	+	2	181_182	c.136_137insAG	c.(136-138)cagfs	p.Q46fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	46					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		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;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCTCACAGGGCAGACCCCTGTG	0.535													47	66	---	---	---	---						AG	24019229	-	AG	24019228	7	5	30	1	0	1	1	0	0	0	0	0	13609	711	25	0	142	0	RPL11	1	24019228	Frame_Shift_Ins	INS	-	TCGA-V4-A9F1-01A-11D-A39W-08	11307982	24019228	225231393	2	526											
SEMA4A	64218	broad.mit.edu	37	chr1	156146412	156146412	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttttcataccctgtgatctCctactgggtggacagccagg	7	12	10	12	0	2	1	1	1	1	0	3	2	2	2	3	3	3	0	3	3	2	4			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:156146412C>G	ENST00000368285.3	+	15	2177	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	637					axon guidance	integral to membrane|plasma membrane	receptor activity	p.S637F(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTGATCTCCTACTGGGTG	0.577													13	24					0	0	1	0	0	G	156146412	C	G	156146412	3	3	30	1	0	0	0	0	1	0	0	0	14085	855	30	5	1964	5	SEMA4A	1	156146412	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	132127184	156146412	93104209	3	527											
PLD5	200150	broad.mit.edu	37	chr1	242264008	242264008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaccatgtacttgttgCgatttaacctaggaaaggtg	10	13	10	8	1	1	0	1	0	0	0	1	2	1	1	2	2	3	2	2	2	4	6			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:242264008C>T	ENST00000536534.2	-	9	1557	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	PLD5_ENST00000442594.2_Missense_Mutation_p.R347H|PLD5_ENST00000427495.1_Missense_Mutation_p.R377H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5		PLD phosphodiesterase 2.					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)			GTACTTGTTGCGATTTAACCT	0.448													17	27					0	0	1	0	0	T	242264008	C	T	242264008	3	4	30	1	0	0	0	0	1	0	0	0	12097	768	27	1	302	1	PLD5	1	242264008	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	86117596	242264008	6986613	4	528											
ALPI	248	broad.mit.edu	37	chr2	233323457	233323457	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgaatgagagcgagagCggtgagtgaggctgaatggc	11	6	19	5	3	0	6	0	5	0	2	0	9	0	6	0	3	2	1	0	3	2	0			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr2:233323457C>T	ENST00000295463.3	+	10	1376	c.1299C>T	c.(1297-1299)agC>agT	p.S433S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	433					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)		AGAGCGAGAGCGGTGAGTGAG	0.647													15	20					0	0	1	0	0	T	233323457	C	T	233323457	5	4	30	1	0	0	0	0	0	0	1	0	539	782	27	1	1337	1	ALPI	2	233323457	Splice_Site	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		233323457	9875916	5	529											
GBX2	2637	broad.mit.edu	37	chr2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgcggcctggggcagcgcgGgcggcggcggcggcggcggc																										TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754													2	4	---	---	---	---						-	237076429	GGC	-	237076427	7	5	30	1	0	1	0	1	0	0	0	0	6321	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGC	TCGA-V4-A9F1-01A-11D-A39W-08	3752970	237076427	6122946	6	530											
BAP1	8314	broad.mit.edu	37	chr3	52443593	52443593	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacatttgctctgaaggtcGtagatctcctccacttgcac	8	13	8	12	1	2	3	0	2	2	1	5	3	3	3	2	1	2	3	2	1	2	3			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr3:52443593G>C	ENST00000460680.1	-	3	570	c.99C>G	c.(97-99)taC>taG	p.Y33*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	33					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		TCTGAAGGTCGTAGATCTCCT	0.612			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							59	22					0	0	1	0	0	C	52443593	G	C	52443593	4	2	30	1	0	0	0	0	0	1	0	0	1309	1140	40	5	2150	5	BAP1	3	52443593	Nonsense_Mutation	SNP	G	TCGA-V4-A9F1-01A-11D-A39W-08		52443593	145578837	7	531											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								28	44					0	0	1	0	0	G	80409488	T	G	80409488	3	3	30	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F1-01A-11D-A39W-08		80409488	60803943	8	532											
EPS8L2	64787	broad.mit.edu	37	chr11	722155	722155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcacttcctcttcgggcCtctggacctggtgcctgggg	2	11	14	14	2	2	0	0	0	2	0	4	1	3	1	4	5	2	1	4	5	0	2			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:722155C>T	ENST00000533256.1	+	13	1424	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L	EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	350						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTTCGGGCCTCTGGACCTG	0.721													6	12					0	0	1	0	0	T	722155	C	T	722155	3	4	30	1	0	0	0	0	1	0	0	0	5224	681	24	3	1091	3	EPS8L2	11	722155	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		722155	134284361	9	533											
PGR	5241	broad.mit.edu	37	chr11	100999546	100999546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcagctctggaatatgCgccctccacgtccgacagcg	8	8	10	15	4	2	0	1	0	1	0	4	2	4	1	3	1	4	2	3	1	2	2			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:100999546C>T	ENST00000325455.5	-	1	1709	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PGR_ENST00000263463.5_Missense_Mutation_p.A86T|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	86	Modulating, Pro-Rich.				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)	CTGGAATATGCGCCCTCCACG	0.602													3	48					0	0	1	0	0	T	100999546	C	T	100999546	3	4	30	1	0	0	0	0	1	0	0	0	11853	768	27	1	2577	1	PGR	11	100999546	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	100277391	100999546	34006970	10	534											
C3	718	broad.mit.edu	37	chr19	6684417	6684417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtacagatctcaaggAtcatagtgttcttggcatcc	10	12	9	10	0	3	1	2	0	2	1	5	2	4	2	2	3	1	3	2	3	3	4	rs146172605	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:6684417A>G	ENST00000245907.6	-	33	4246	c.4154T>C	c.(4153-4155)aTc>aCc	p.I1385T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		GATCTCAAGGATCATAGTGTT	0.448													37	49					0	0	1	0	0	G	6684417	A	G	6684417	3	3	30	1	0	0	0	0	1	0	0	0	2218	333	12	4	873	4	C3	19	6684417	Missense_Mutation	SNP	A	TCGA-V4-A9F1-01A-11D-A39W-08		6684417	52444566	11	535											
PAK4	0	broad.mit.edu	37	chr19	39664276	39664278	+	In_Frame_Del	DEL	TCC	TCC	-																															ggggcctggccatcccccagTcctcctcctcctcctcccgg																										TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:39664276_39664278delTCC	ENST00000599386.1	+	4	446_448	c.265_267delTCC	c.(265-267)tccdel	p.S94del	PAK4_ENST00000599470.1_In_Frame_Del_p.S94del|PAK4_ENST00000593690.1_In_Frame_Del_p.S247del|PAK4_ENST00000358301.3_In_Frame_Del_p.S247del|PAK4_ENST00000435673.2_In_Frame_Del_p.S247del|PAK4_ENST00000321944.4_In_Frame_Del_p.S157del|PAK4_ENST00000360442.3_In_Frame_Del_p.S247del	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	247	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CATCCCCCAGTCCTCCTCCTCCT	0.7													3	6	---	---	---	---						-	39664278	TCC	-	39664276	7	5	30	1	0	1	0	1	0	0	0	0	11450	1667	58	0	734	0	PAK4	19	39664276	In_Frame_Del	DEL	TCC	TCGA-V4-A9F1-01A-11D-A39W-08	32979859	39664276	19464707	12	536											
PSG6	5675	broad.mit.edu	37	chr19	43411102	43411102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactatcatggatttggaGatttccttgccagtggctga	8	15	11	7	0	1	3	1	2	0	1	2	5	2	4	2	3	1	1	2	3	1	5			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:43411102G>T	ENST00000187910.2	-	5	1277	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000292125.2_Silent_p.I404I	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGATTTGGAGATTTCCTTGC	0.453													63	109					2.03366e-24	2.03366e-24	1	1	0	T	43411102	G	T	43411102	2	4	30	1	0	0	0	0	0	0	0	1	12708	932	33	5		5	PSG6	19	43411102	Silent	SNP	G	TCGA-V4-A9F1-01A-11D-A39W-08	3746826	43411102	15717881	13	537											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	4	---	---	---	---						-	38079978	GCA	-	38079976	7	5	30	1	0	1	0	1	0	0	0	0	15220	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-V4-A9F1-01A-11D-A39W-08		38079976	117190584	14	538											
TFDP3	51270	broad.mit.edu	37	chrX	132351713	132351713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgacagttctgagccgagTtggtggtcagaccaatccac	9	10	11	11	1	3	3	1	2	2	1	4	4	4	3	3	2	1	2	3	2	1	2			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chrX:132351713T>C	ENST00000310125.4	-	1	663	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	192	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CTGAGCCGAGTTGGTGGTCAG	0.433													14	17					0	0	1	0	0	C	132351713	T	C	132351713	3	2	30	1	0	0	0	0	1	0	0	0	15859	1725	60	4	646	4	TFDP3	23	132351713	Missense_Mutation	SNP	T	TCGA-V4-A9F1-01A-11D-A39W-08	94271737	132351713	22918847	15	539											
ITPKB	3707	broad.mit.edu	37	chr1	226923298	226923298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgcgctcagggtcaCtggagatgtcctcctctgag	6	9	14	12	1	3	2	2	1	1	1	5	3	5	2	3	3	1	1	3	3	0	0			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr1:226923298C>G	ENST00000429204.1	-	2	2189	c.1862G>C	c.(1861-1863)aGt>aCt	p.S621T	ITPKB_ENST00000366784.1_Missense_Mutation_p.S621T|ITPKB_ENST00000272117.3_Missense_Mutation_p.S621T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	621							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTCAGGGTCACTGGAGATGTC	0.587													47	36					0	0	1	0	0	G	226923298	C	G	226923298	3	3	31	1	0	0	0	0	1	0	0	0	7962	565	20	5	1006	5	ITPKB	1	226923298	Missense_Mutation	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		226923298	22327323	1	540											
TMEM8B	51754	broad.mit.edu	37	chr9	35846950	35846950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccattcggagtcgatatgtGctggaagctgcagtctacac	9	10	12	10	2	1	0	0	0	1	0	3	3	1	2	1	2	4	3	1	2	3	3			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr9:35846950G>A	ENST00000377988.2	+	10	2065	c.777G>A	c.(775-777)gtG>gtA	p.V259V	TMEM8B_ENST00000377991.4_Silent_p.V259V|TMEM8B_ENST00000377996.1_Silent_p.V259V|TMEM8B_ENST00000439587.2_Silent_p.V259V	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	259					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GTCGATATGTGCTGGAAGCTG	0.552													5	46					0	0	1	0	0	A	35846950	G	A	35846950	2	1	31	1	0	0	0	0	0	0	0	1	16275	1306	46	2		2	TMEM8B	9	35846950	Silent	SNP	G	TCGA-V4-A9F2-01A-11D-A39W-08		35846950	105366481	2	541											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								19	22					0	0	1	0	0	A	80409488	T	A	80409488	3	1	31	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08	44562538	80409488	60803943	3	542											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021064	73021064	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagtcgacagcggaagTccctgtcaaatccagatatc	15	7	9	10	2	1	2	1	0	0	2	5	4	3	3	2	1	1	0	2	1	5	1			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr11:73021064T>G	ENST00000263674.3	+	1	1731	c.1381T>G	c.(1381-1383)Tcc>Gcc	p.S461A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	461					actin cytoskeleton organization|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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGCGGAAGTCCCTGTCAAA	0.577													7	22					0	0	1	0	0	G	73021064	T	G	73021064	3	3	31	1	0	0	0	0	1	0	0	0	897	1667	58	5	1383	5	ARHGEF17	11	73021064	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08		73021064	61985452	4	543											
MRPS35	60488	broad.mit.edu	37	chr12	27863872	27863872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctactcggccactccggtCccgacacctagcctgcgtga	6	8	10	17	4	1	1	0	1	1	0	4	2	3	1	5	2	3	0	5	2	2	2			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr12:27863872C>T	ENST00000081029.3	+	1	167	c.96C>T	c.(94-96)gtC>gtT	p.V32V	MRPS35_ENST00000538315.1_Silent_p.V32V	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	32					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCACTCCGGTCCCGACACCTA	0.652													5	5					0	0	1	0	0	T	27863872	C	T	27863872	2	4	31	1	0	0	0	0	0	0	0	1	9893	842	30	3		3	MRPS35	12	27863872	Silent	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		27863872	105988023	5	544											
KRR1	11103	broad.mit.edu	37	chr12	75897718	75897718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggtggtgggaatggcgtaTattctttcttaacagttttt	7	18	12	4	1	2	0	0	0	2	0	2	1	2	1	0	4	1	2	0	4	4	7			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr12:75897718T>C	ENST00000229214.4	-	7	820	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	266	Lys-rich.				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						GAATGGCGTATATTCTTTCTT	0.343													5	88					0	0	1	0	0	C	75897718	T	C	75897718	3	2	31	1	0	0	0	0	1	0	0	0	8489	1406	49	4	364	4	KRR1	12	75897718	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08	48033846	75897718	57954177	6	545											
IGSF9	57549	broad.mit.edu	37	chr1	159901298	159901298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagcattgctggcactGcattcccagtgcccgtgggc	6	8	12	15	1	0	0	0	0	0	0	1	0	1	0	3	2	4	4	3	2	0	2			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr1:159901298G>A	ENST00000368094.1	-	12	1655	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Silent_p.C470C	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	486	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGGCACTGCATTCCCAGT	0.642													3	34					0	0	1	0	0	A	159901298	G	A	159901298	2	1	32	1	0	0	0	0	0	0	0	1	7649	1311	46	2		2	IGSF9	1	159901298	Silent	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		159901298	89349323	1	546											
PDGFRA	5156	broad.mit.edu	37	chr4	55153609	55153609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcagacctttctgcccGtgaagtggatggctcctgag	6	11	12	12	1	1	3	0	2	1	1	2	4	2	4	4	2	2	2	4	2	1	2			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr4:55153609G>A	ENST00000257290.5	+	19	2906	c.2575G>A	c.(2575-2577)Gtg>Atg	p.V859M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	859	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTTCTGCCCGTGAAGTGGAT	0.502			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	75					0	0	1	0	0	A	55153609	G	A	55153609	3	1	32	1	0	0	0	0	1	0	0	0	11708	1145	40	1	2645	1	PDGFRA	4	55153609	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		55153609	136000667	2	547											
FGF18	8817	broad.mit.edu	37	chr5	170863117	170863117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggttgccgaggagaaCgtggacttccgcatccacgt	7	9	14	11	4	0	1	0	0	0	1	2	4	2	2	3	3	3	3	3	3	1	2			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr5:170863117C>T	ENST00000274625.5	+	3	634	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	30					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGAGGAGAACGTGGACTTCC	0.632													7	28					0	0	1	0	0	T	170863117	C	T	170863117	2	4	32	1	0	0	0	0	0	0	0	1	5879	535	19	1		1	FGF18	5	170863117	Silent	SNP	C	TCGA-V4-A9F3-01A-11D-A39W-08		170863117	10052143	3	548											
FLNC	2318	broad.mit.edu	37	chr7	128486478	128486478	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggccaggcctggagggtgGcttggtcaacaaggccaacc	8	5	16	12	1	1	0	1	0	0	0	1	1	1	1	4	7	2	1	4	7	3	1			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr7:128486478G>C	ENST00000325888.8	+	23	4349	c.4088G>C	c.(4087-4089)gGc>gCc	p.G1363A	FLNC_ENST00000346177.6_Missense_Mutation_p.G1363A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1363					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						CTGGAGGGTGGCTTGGTCAAC	0.627													13	28					0	0	1	0	0	C	128486478	G	C	128486478	3	2	32	1	0	0	0	0	1	0	0	0	5968	1203	42	5	4178	5	FLNC	7	128486478	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		128486478	30652185	4	549											
PCGF6	84108	broad.mit.edu	37	chr10	105073982	105073983	+	Frame_Shift_Ins	INS	-	-	A																															ttgcacgtcggatttcccttINSagagtttgatactgctccaa																										TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr10:105073982_105073983insA	ENST00000369847.3	-	9	1023_1024	c.956_957insT	c.(955-957)ctafs	p.L319fs	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Frame_Shift_Ins_p.L244fs	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	319					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GGATTTCCCTTAGAGTTTGATA	0.381													33	84	---	---	---	---						A	105073983	-	A	105073982	7	5	32	1	0	1	1	0	0	0	0	0	11625	1741	61	0	103	0	PCGF6	10	105073982	Frame_Shift_Ins	INS	-	TCGA-V4-A9F3-01A-11D-A39W-08		105073982	30460765	5	550											
RAB38	23682	broad.mit.edu	37	chr11	87882992	87882992	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgccattagggagacttaActtggagtccaaatcatttt	11	15	8	7	0	1	1	1	0	0	1	2	3	2	2	2	2	2	0	2	2	3	6			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr11:87882992A>C	ENST00000243662.6	-	2	416	c.334T>G	c.(334-336)Tta>Gta	p.L112V		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGAGACTTAACTTGGAGTCC	0.463													41	87					0	0	1	0	0	C	87882992	A	C	87882992	3	2	32	1	0	0	0	0	1	0	0	0	12980	40	2	5	309	5	RAB38	11	87882992	Missense_Mutation	SNP	A	TCGA-V4-A9F3-01A-11D-A39W-08		87882992	47123524	6	551											
PRDM4	11108	broad.mit.edu	37	chr12	108133200	108133200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgaggtcctgcctccGcataaacaacttgtcacagt	9	11	8	13	1	1	1	1	1	0	0	3	1	3	1	3	1	4	2	3	1	3	3			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr12:108133200G>A	ENST00000228437.5	-	11	2512	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	685					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						TCCTGCCTCCGCATAAACAAC	0.517													3	41					0	0	1	0	0	A	108133200	G	A	108133200	3	1	32	1	0	0	0	0	1	0	0	0	12511	1086	38	1	360	1	PRDM4	12	108133200	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		108133200	25718695	7	552											
ZNF555	148254	broad.mit.edu	37	chr19	2852695	2852695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgggaaaacctttcctcGtacttcctccctcaatcggc	8	12	7	14	2	1	0	1	0	0	0	6	1	4	1	4	2	2	1	4	2	4	3			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:2852695G>A	ENST00000334241.4	+	4	770	c.632G>A	c.(631-633)cGt>cAt	p.R211H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R210H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R211L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		ACCTTTCCTCGTACTTCCTCC	0.448													26	43					0	0	1	0	0	A	2852695	G	A	2852695	3	1	32	1	0	0	0	0	1	0	0	0	18043	1145	40	1	646	1	ZNF555	19	2852695	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		2852695	56276288	8	553											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								22	34					0	0	1	0	0	T	3118942	A	T	3118942	3	4	32	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9F3-01A-11D-A39W-08	266247	3118942	56010041	9	554											
BPI	671	broad.mit.edu	37	chr20	36954747	36954747	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtctgtgcagcccacCggccttaccttctaccctgc	5	10	7	19	1	2	0	0	0	2	0	2	0	2	0	6	1	5	1	6	1	2	3			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr20:36954747C>G	ENST00000262865.4	+	10	1175	c.1086C>G	c.(1084-1086)acC>acG	p.T362T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	362					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGCAGCCCACCGGCCTTACCT	0.592													7	9					0	0	1	0	0	G	36954747	C	G	36954747	2	3	32	1	0	0	0	0	0	0	0	1	1492	639	23	5		5	BPI	20	36954747	Silent	SNP	C	TCGA-V4-A9F3-01A-11D-A39W-08		36954747	26070773	10	555											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468	by1000genomes	TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													4	39					0	0	1	0	0	C	73811938	G	C	73811938	2	2	32	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		73811938	81458622	11	556											
EYA3	2140	broad.mit.edu	37	chr1	28339771	28339771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagcaggcctggtacTgattctgaccaagaatagta	11	10	13	7	0	1	3	0	2	1	1	1	3	1	3	2	4	2	4	2	4	6	5			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:28339771T>C	ENST00000373871.3	-	9	860	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	EYA3_ENST00000436342.2_Missense_Mutation_p.Q81R|EYA3_ENST00000545175.1_Missense_Mutation_p.Q154R|EYA3_ENST00000373863.3_Missense_Mutation_p.Q161R|EYA3_ENST00000373864.1_Missense_Mutation_p.Q51R|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.Q161R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	207					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|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;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCTGGTACTGATTCTGACC	0.463													34	40					0	0	1	0	0	C	28339771	T	C	28339771	3	2	33	1	0	0	0	0	1	0	0	0	5358	1580	55	4	1141	4	EYA3	1	28339771	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		28339771	220910850	1	557											
C2orf71	388939	broad.mit.edu	37	chr2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgccctgacatcctggccGaattgctttgggctttttca	5	14	9	13	2	1	1	1	1	0	0	3	2	3	1	4	2	1	2	4	2	1	4			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512													19	73					0	0	1	0	0	A	29297043	G	A	29297043	3	1	33	1	0	0	0	0	1	0	0	0	2205	1057	37	1	3789	1	C2orf71	2	29297043	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		29297043	213902330	2	558											
NCAPH	23397	broad.mit.edu	37	chr2	97031759	97031759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggattagacatcacaaCatatggggagtcaaacttgg	15	8	10	8	0	2	1	2	0	0	1	2	3	2	3	1	4	2	0	1	4	5	3			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:97031759C>A	ENST00000455200.1	+	14	2106	c.1811C>A	c.(1810-1812)aCa>aAa	p.T604K	NCAPH_ENST00000240423.4_Missense_Mutation_p.T615K|NCAPH_ENST00000427946.1_Missense_Mutation_p.T479K			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	615					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GACATCACAACATATGGGGAG	0.438													3	38					0.115264	0.119381	1	1	0	A	97031759	C	A	97031759	3	1	33	1	0	0	0	0	1	0	0	0	10256	478	17	5	1898	5	NCAPH	2	97031759	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	67734716	97031759	146167614	3	559											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								19	27					0	0	1	0	0	T	198267483	C	T	198267483	3	4	33	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	101235724	198267483	44931890	4	560											
CNTN3	5067	broad.mit.edu	37	chr3	74535622	74535622	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggcaaactgaagttTggcttctctgctgacaattg	10	13	9	9	0	1	2	0	2	1	0	2	2	1	2	0	2	3	4	0	2	4	4			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr3:74535622T>G	ENST00000263665.6	-	3	370	c.343A>C	c.(343-345)Aaa>Caa	p.K115Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	115	Ig-like C2-type 1.				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)		AACTGAAGTTTGGCTTCTCTG	0.338													9	31					0	0	1	0	0	G	74535622	T	G	74535622	3	3	33	1	0	0	0	0	1	0	0	0	3665	1821	63	5	2823	5	CNTN3	3	74535622	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		74535622	123486808	5	561											
EVC	2121	broad.mit.edu	37	chr4	5735137	5735137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgctgcatttggacaCggcactgaggcaggaaaagc	12	6	13	10	1	0	2	0	1	0	1	0	4	0	4	1	4	3	4	1	4	2	1			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr4:5735137C>T	ENST00000382674.2	+	5	861	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EVC_ENST00000509451.1_Missense_Mutation_p.T226M|EVC_ENST00000264956.6_Missense_Mutation_p.T226M			P57679	EVC_HUMAN	Ellis van Creveld syndrome	226					muscle organ development	integral to membrane		p.T226M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CATTTGGACACGGCACTGAGG	0.478													42	221					0	0	1	0	0	T	5735137	C	T	5735137	3	4	33	1	0	0	0	0	1	0	0	0	5313	536	19	1	695	1	EVC	4	5735137	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		5735137	185419139	6	562											
SLIT3	6586	broad.mit.edu	37	chr5	168175312	168175312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggtacttacagctcGgtcacatccttgggcatgcc	6	10	13	12	1	1	0	1	0	0	0	3	0	2	0	2	4	4	4	2	4	2	3	rs116182795	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr5:168175312G>A	ENST00000519560.1	-	20	2684	c.2265C>T	c.(2263-2265)acC>acT	p.T755T	SLIT3_ENST00000404867.3_Silent_p.T755T|SLIT3_ENST00000332966.8_Silent_p.T755T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	755					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACAGCTCGGTCACATCCT	0.612													20	74					0	0	1	0	0	A	168175312	G	A	168175312	2	1	33	1	0	0	0	0	0	0	0	1	14795	1103	39	1		1	SLIT3	5	168175312	Silent	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		168175312	12739948	7	563											
ATXN1	6310	broad.mit.edu	37	chr6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgatgctgatg	2	14	14	11	0	0	2	0	2	0	0	0	2	0	2	0	0	11	11	0	0	0	0			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667													5	10					0.184627	0.184627	1	1	0	A	16327897	C	A	16327897	3	1	33	1	0	0	0	0	1	0	0	0	1207	796	28	5	1810	5	ATXN1	6	16327897	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		16327897	154787170	8	564											
DPCR1	135656	broad.mit.edu	37	chr6	30919829	30919829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcagagaagaccatatgCaccaaagggaaaaacacacc	19	4	7	11	0	1	2	1	0	0	2	1	4	1	3	3	1	3	1	3	1	6	2			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919829C>G	ENST00000462446.1	+	2	3616	c.3588C>G	c.(3586-3588)tgC>tgG	p.C1196W	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.C38W			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	320						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGACCATATGCACCAAAGGGA	0.478													22	64					0	0	1	0	0	G	30919829	C	G	30919829	3	3	33	1	0	0	0	0	1	0	0	0	4739	718	25	5	3594	5	DPCR1	6	30919829	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	14591932	30919829	140195238	9	565			1	3		4	4	274	C		1.766166e-12
DPCR1	135656	broad.mit.edu	37	chr6	30919895	30919895	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaacaccacactgacCactgagaccataaaagcccc	14	4	8	15	0	0	2	0	2	0	1	0	4	0	3	5	2	2	0	5	2	3	1			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919895C>G	ENST00000462446.1	+	2	3682	c.3654C>G	c.(3652-3654)acC>acG	p.T1218T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.T60T			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	342						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCACACTGACCACTGAGACCA	0.453													23	68					0	0	1	0	0	G	30919895	C	G	30919895	2	3	33	1	0	0	0	0	0	0	0	1	4739	581	21	5		5	DPCR1	6	30919895	Silent	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	66	30919895	140195172	10	566			1	3		4	4	274	C		1.766166e-12
DPCR1	135656	broad.mit.edu	37	chr6	30919999	30919999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggtcacaggagacaaatCtctcactactacctcttctc	12	10	5	14	0	5	1	2	0	3	1	7	2	5	1	1	2	2	0	1	2	4	3			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919999C>G	ENST00000462446.1	+	2	3786	c.3758C>G	c.(3757-3759)tCt>tGt	p.S1253C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.S95C			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	377						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGAGACAAATCTCTCACTACT	0.418													31	101					0	0	1	0	0	G	30919999	C	G	30919999	3	3	33	1	0	0	0	0	1	0	0	0	4739	913	32	5	3764	5	DPCR1	6	30919999	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	104	30919999	140195068	11	567			1	3		4	4	274	C		1.766166e-12
DPCR1	135656	broad.mit.edu	37	chr6	30920102	30920102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaacgaagctgagttctatCacatcagaagccacaggaaa	17	6	9	9	1	3	3	2	1	1	2	3	5	3	4	1	1	3	2	1	1	5	2			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30920102C>G	ENST00000462446.1	+	2	3889	c.3861C>G	c.(3859-3861)atC>atG	p.I1287M	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.I129M			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	411						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGAGTTCTATCACATCAGAAG	0.438													47	111					0	0	1	0	0	G	30920102	C	G	30920102	3	3	33	1	0	0	0	0	1	0	0	0	4739	816	29	5	3867	5	DPCR1	6	30920102	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	103	30920102	140194965	12	568			1	3		4	4	274	C		1.766166e-12
CD2AP	23607	broad.mit.edu	37	chr6	47573987	47573987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgcctggaagaaggttgCcgggccgtttcaatggtgga	9	9	16	7	2	1	2	1	0	0	2	1	4	1	4	3	5	2	2	3	5	3	2			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:47573987C>T	ENST00000359314.5	+	14	1960	c.1504C>T	c.(1504-1506)Ccg>Tcg	p.P502S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	502					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAAGGTTGCCGGGCCGTTT	0.378													4	129					0	0	1	0	0	T	47573987	C	T	47573987	3	4	33	1	0	0	0	0	1	0	0	0	3016	739	26	2	1558	2	CD2AP	6	47573987	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	16653885	47573987	123541080	13	569											
CRISP1	167	broad.mit.edu	37	chr6	49819827	49819827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgagcttattaaattggtCtctagctgatttcttctgtt	8	18	8	7	1	3	1	0	1	3	0	4	3	3	1	0	1	2	3	0	1	4	7			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:49819827C>T	ENST00000335847.4	-	3	183	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CRISP1_ENST00000329411.5_Missense_Mutation_p.D28N|CRISP1_ENST00000536021.1_Missense_Mutation_p.D28N|CRISP1_ENST00000507853.1_Missense_Mutation_p.D28N|CRISP1_ENST00000505118.1_Missense_Mutation_p.D28N|CRISP1_ENST00000355791.2_Missense_Mutation_p.D28N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	28					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTAAATTGGTCTCTAGCTGAT	0.368													4	144					0	0	1	0	0	T	49819827	C	T	49819827	3	4	33	1	0	0	0	0	1	0	0	0	3902	913	32	3	691	3	CRISP1	6	49819827	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	2245840	49819827	121295240	14	570											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								35	41					0	0	1	0	0	G	80409488	T	G	80409488	3	3	33	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		80409488	60803943	15	571											
CAMK1D	57118	broad.mit.edu	37	chr10	12867686	12867686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtttggccagccaaaaaGactgtgcgtatgtagcaaaa	14	9	10	8	1	1	1	1	0	0	1	1	1	1	1	2	1	3	4	2	1	6	3			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr10:12867686G>A	ENST00000378847.3	+	10	1373	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D346N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	346	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGCCAAAAAGACTGTGCGTA	0.552													5	122					0	0	1	0	0	A	12867686	G	A	12867686	3	1	33	1	0	0	0	0	1	0	0	0	2615	942	33	3	1074	3	CAMK1D	10	12867686	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		12867686	122667061	16	572											
ZNF195	0	broad.mit.edu	37	chr11	3380662	3380662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaaagttttttccacattCgtcacatttgtagggcttct	8	17	8	8	1	2	0	1	0	1	0	4	0	3	0	1	2	0	4	1	2	3	8			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:3380662C>T	ENST00000354599.6	-	4	1464	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	ZNF195_ENST00000399602.4_Missense_Mutation_p.E526K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E458K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.E458K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E507K|ZNF195_ENST00000005082.9_Missense_Mutation_p.E503K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTTCCACATTCGTCACATTTG	0.413													41	51					0	0	1	0	0	T	3380662	C	T	3380662	3	4	33	1	0	0	0	0	1	0	0	0	17816	893	31	1	317	1	ZNF195	11	3380662	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		3380662	131625854	17	573											
TTC17	55761	broad.mit.edu	37	chr11	43429111	43429111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctacttcaagctttggCcatcaatagctctgaggtga	9	12	10	10	0	3	2	2	2	1	0	3	2	3	2	1	2	4	4	1	2	4	4			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:43429111C>T	ENST00000039989.4	+	15	2062	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	TTC17_ENST00000299240.6_Missense_Mutation_p.A683V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	683							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAGCTTTGGCCATCAATAGC	0.388													3	44					0	0	1	0	0	T	43429111	C	T	43429111	3	4	33	1	0	0	0	0	1	0	0	0	16746	739	26	2	2106	2	TTC17	11	43429111	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	40048449	43429111	91577405	18	574											
USP35	57558	broad.mit.edu	37	chr11	77911266	77911266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccttccagcactcccacGaagccttccacctggtaagg	9	8	8	16	1	0	1	0	1	0	0	3	2	3	1	6	2	2	2	6	2	2	3			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:77911266G>A	ENST00000529308.1	+	5	1285	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E73K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	342					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCACTCCCACGAAGCCTTCCA	0.622													7	28					0	0	1	0	0	A	77911266	G	A	77911266	3	1	33	1	0	0	0	0	1	0	0	0	17126	1059	37	1	1038	1	USP35	11	77911266	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	34482155	77911266	57095250	19	575											
FANCM	57697	broad.mit.edu	37	chr14	45668011	45668011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaatgttggtattcatGttccaacagtggtgaatagt	13	13	11	4	0	1	2	1	1	0	1	2	3	2	2	1	2	1	3	1	2	6	5			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr14:45668011G>T	ENST00000267430.5	+	22	5966	c.5881G>T	c.(5881-5883)Gtt>Ttt	p.V1961F	FANCM_ENST00000542564.2_Missense_Mutation_p.V1935F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1961	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA 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						TGGTATTCATGTTCCAACAGT	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	31					2.48551e-13	2.66962e-13	1	1	0	T	45668011	G	T	45668011	3	4	33	1	0	0	0	0	1	0	0	0	5704	1377	48	5	5967	5	FANCM	14	45668011	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		45668011	61681529	20	576											
NEDD4	4734	broad.mit.edu	37	chr15	56208903	56208903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttgaacaacgttagacgTtgaaatccgtgttggtcttt	10	15	9	7	3	1	3	0	2	1	1	2	3	2	3	1	1	2	3	1	1	4	5	rs148700559		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr15:56208903T>C	ENST00000508342.1	-	1	426	c.127A>G	c.(127-129)Acg>Gcg	p.T43A	NEDD4_ENST00000338963.2_Missense_Mutation_p.T43A|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.T43A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	43					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	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase 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)		ACGTTAGACGTTGAAATCCGT	0.443													22	104					0	0	1	0	0	C	56208903	T	C	56208903	3	2	33	1	0	0	0	0	1	0	0	0	10357	1725	60	4	3932	4	NEDD4	15	56208903	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		56208903	46322489	21	577											
KRT31	3881	broad.mit.edu	37	chr17	39550398	39550398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgcacgcgttggtcGtggcacagggattgctgggc	4	10	17	10	3	0	0	0	0	0	0	1	1	0	1	0	4	3	6	0	4	0	3	rs111342287	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39550398G>A	ENST00000251645.2	-	7	1173	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	374	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGCGTTGGTCGTGGCACAGGG	0.557													17	40					0	0	1	0	0	A	39550398	G	A	39550398	3	1	33	1	0	0	0	0	1	0	0	0	8510	1145	40	1	133	1	KRT31	17	39550398	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		39550398	41644812	22	578											
KRT16	3868	broad.mit.edu	37	chr17	39767698	39767698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatccaacacccggcGcaggccattgacgtcggcct	8	6	10	17	4	1	1	1	1	0	0	3	1	2	1	4	3	2	2	4	3	1	1			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39767698G>A	ENST00000301653.4	-	3	734	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AACACCCGGCGCAGGCCATTG	0.617													4	68					0	0	1	0	0	A	39767698	G	A	39767698	3	1	33	1	0	0	0	0	1	0	0	0	8496	1087	38	1	775	1	KRT16	17	39767698	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	217300	39767698	41427512	23	579											
ANO8	57719	broad.mit.edu	37	chr19	17439127	17439127	+	Frame_Shift_Del	DEL	C	C	-																															gggtccgggcccccgtcgggCccctggtctcggccctcgcc																										TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:17439127delC	ENST00000159087.4	-	13	2228	c.2070delG	c.(2068-2070)gggfs	p.G690fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	690						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCCCGTCGGGCCCCTGGTCTC	0.741													2	4	---	---	---	---						-	17439127	C	-	17439127	7	5	33	1	0	1	0	1	0	0	0	0	697	726	26	0	1652	0	ANO8	19	17439127	Frame_Shift_Del	DEL	C	TCGA-V4-A9F4-01A-11D-A39W-08		17439127	41689856	24	580											
DHX34	9704	broad.mit.edu	37	chr19	47882984	47882984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtccctcctgctttttagCcggtctttggacaccaatgg	6	13	9	13	1	1	0	0	0	1	0	3	1	3	1	4	3	2	1	4	3	2	4			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:47882984C>T	ENST00000328771.4	+	14	3073	c.2724C>T	c.(2722-2724)agC>agT	p.S908S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	908						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGCTTTTTAGCCGGTCTTTGG	0.632													4	121					0	0	1	0	0	T	47882984	C	T	47882984	2	4	33	1	0	0	0	0	0	0	0	1	4535	738	26	2		2	DHX34	19	47882984	Silent	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	30443857	47882984	11245999	25	581											
WDR3	10885	broad.mit.edu	37	chr1	118477140	118477140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagaagttacttgcttatgCccctccccagatgggctaca	10	10	8	13	0	0	2	0	0	0	2	1	2	1	2	4	1	4	3	4	1	5	4			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr1:118477140C>T	ENST00000349139.5	+	3	263	c.216C>T	c.(214-216)tgC>tgT	p.C72C	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus		p.C72C(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTTGCTTATGCCCCTCCCCAG	0.428													3	52					0	0	1	0	0	T	118477140	C	T	118477140	2	4	34	1	0	0	0	0	0	0	0	1	17345	747	26	2		2	WDR3	1	118477140	Silent	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		118477140	130773481	1	582											
FAT1	2195	broad.mit.edu	37	chr4	187538910	187538910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctcttcagaatcagcatCcgtggtacttaagatggcaa	12	11	9	9	1	3	2	2	0	1	2	5	3	4	2	1	2	2	3	1	2	4	3			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr4:187538910C>T	ENST00000441802.2	-	10	9039	c.8830G>A	c.(8830-8832)Gat>Aat	p.D2944N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2944	Cadherin 27.				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						GAATCAGCATCCGTGGTACTT	0.388										HNSCC(5;0.00058)			31	39					0	0	1	0	0	T	187538910	C	T	187538910	3	4	34	1	0	0	0	0	1	0	0	0	5722	855	30	3	5008	3	FAT1	4	187538910	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		187538910	3615366	2	583											
CMYA5	202333	broad.mit.edu	37	chr5	79032425	79032425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagaaatcagagaagcaAaggcagtaggaacccaacca	19	2	9	11	0	1	2	1	0	0	2	1	4	1	3	3	2	3	3	3	2	6	1			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr5:79032425A>C	ENST00000446378.2	+	2	7868	c.7837A>C	c.(7837-7839)Aag>Cag	p.K2613Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2613						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGAAGCAAAGGCAGTAGG	0.418													19	23					0	0	1	0	0	C	79032425	A	C	79032425	3	2	34	1	0	0	0	0	1	0	0	0	3613	15	1	5	7843	5	CMYA5	5	79032425	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		79032425	101882835	3	584											
COL9A1	1297	broad.mit.edu	37	chr6	70964709	70964709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccatcacggccatccacaCctggcaaaccctaaacacac	13	5	4	19	1	1	0	1	0	0	0	3	0	3	0	5	2	2	1	5	2	3	1			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr6:70964709C>T	ENST00000357250.6	-	24	1780	c.1622G>A	c.(1621-1623)gGt>gAt	p.G541D	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G298D|COL9A1_ENST00000320755.7_Missense_Mutation_p.G298D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	541	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						GCCATCCACACCTGGCAAACC	0.453													16	0					0	0	1	0	0	T	70964709	C	T	70964709	3	4	34	1	0	0	0	0	1	0	0	0	3730	507	18	3	1203	3	COL9A1	6	70964709	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		70964709	100150358	4	585											
GPAA1	8733	broad.mit.edu	37	chr8	145138937	145138937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctaccacgatgtcaatGtcactggtaggttctcttgt	9	13	9	10	1	3	0	2	0	1	0	4	1	3	0	2	2	2	2	2	2	4	4			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr8:145138937G>C	ENST00000355091.4	+	5	731	c.610G>C	c.(610-612)Gtc>Ctc	p.V204L	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.V144L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	204					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATGTCAATGTCACTGGTAG	0.532													4	108					0	0	1	0	0	C	145138937	G	C	145138937	3	2	34	1	0	0	0	0	1	0	0	0	6627	1377	48	5	628	5	GPAA1	8	145138937	Missense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08		145138937	1225085	5	586											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112306587	112306587	+	Frame_Shift_Del	DEL	G	G	-																															ttaattgtaatggagatgatGgaagggggagagctatttca																										TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr12:112306587delG	ENST00000550735.2	+	5	1071	c.315delG	c.(313-315)atgfs	p.M105fs	MAPKAPK5_ENST00000546394.1_Intron|MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.M105fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	105	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TGGAGATGATGGAAGGGGGAG	0.403													2	4	---	---	---	---						-	112306587	G	-	112306587	7	5	34	1	0	1	0	1	0	0	0	0	9341	1348	47	0	333	0	MAPKAPK5	12	112306587	Frame_Shift_Del	DEL	G	TCGA-V4-A9F5-01A-11D-A39W-08		112306587	21545308	6	587											
KTN1	0	broad.mit.edu	37	chr14	56094706	56094706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgctgctgtgaaggaagAtgctgctgctacaaaggatc	11	9	12	9	1	0	2	0	1	0	1	2	4	0	4	0	2	5	5	0	2	4	1			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr14:56094706A>G	ENST00000416613.1	+	5	1112	c.1040A>G	c.(1039-1041)gAt>gGt	p.D347G	KTN1_ENST00000395309.3_Missense_Mutation_p.D347G|KTN1_ENST00000438792.2_Missense_Mutation_p.D347G|KTN1_ENST00000413890.2_Missense_Mutation_p.D347G|KTN1_ENST00000395314.3_Missense_Mutation_p.D347G|KTN1_ENST00000395308.1_Missense_Mutation_p.D347G|KTN1_ENST00000395311.1_Missense_Mutation_p.D347G			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	347					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						GTGAAGGAAGATGCTGCTGCT	0.413			T	RET	papillary thryoid								18	18					0	0	1	0	0	G	56094706	A	G	56094706	3	3	34	1	0	0	0	0	1	0	0	0	8624	333	12	4	1058	4	KTN1	14	56094706	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		56094706	51254834	7	588											
EXOC5	10640	broad.mit.edu	37	chr14	57676363	57676363	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatacaactgtaggaataTtgttgaagatgctcatagat	14	12	8	7	0	1	3	1	1	0	2	1	4	1	4	1	1	3	3	1	1	7	6			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr14:57676363T>C	ENST00000413566.2	-	17	2219	c.1860A>G	c.(1858-1860)caA>caG	p.Q620Q	EXOC5_ENST00000340918.7_Silent_p.Q555Q	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	620					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TGTAGGAATATTGTTGAAGAT	0.388													9	14					0	0	1	0	0	C	57676363	T	C	57676363	2	2	34	1	0	0	0	0	0	0	0	1	5334	1490	52	4		4	EXOC5	14	57676363	Silent	SNP	T	TCGA-V4-A9F5-01A-11D-A39W-08	1581657	57676363	49673177	8	589											
CYFIP1	23191	broad.mit.edu	37	chr15	22926017	22926017	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagacagaaatgcatttgtTactggcatcgcaagatacat	15	10	9	7	1	0	3	0	0	0	3	1	4	0	3	0	1	3	4	0	1	5	3			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr15:22926017T>A	ENST00000313077.7	+	3	284	c.159T>A	c.(157-159)gtT>gtA	p.V53V	CYFIP1_ENST00000560848.1_Silent_p.V53V	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	53					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			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)		ATGCATTTGTTACTGGCATCG	0.463													4	108					0	0	1	0	0	A	22926017	T	A	22926017	2	1	34	1	0	0	0	0	0	0	0	1	4160	1741	61	5		5	CYFIP1	15	22926017	Silent	SNP	T	TCGA-V4-A9F5-01A-11D-A39W-08		22926017	79605375	9	590											
TANC2	26115	broad.mit.edu	37	chr17	61498656	61498656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccgccaactcccaggccGttgctgcattcccaaagtgt	8	8	8	17	2	0	0	0	0	0	0	2	0	2	0	5	1	3	3	5	1	2	2			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr17:61498656G>A	ENST00000424789.2	+	25	5317	c.5313G>A	c.(5311-5313)ccG>ccA	p.P1771P	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1781P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1771							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCCAGGCCGTTGCTGCATT	0.522													3	59					0	0	1	0	0	A	61498656	G	A	61498656	2	1	34	1	0	0	0	0	0	0	0	1	15602	1132	40	1		1	TANC2	17	61498656	Silent	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08		61498656	19696554	10	591											
ARHGDIA	396	broad.mit.edu	37	chr17	79827106	79827106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccggacactatctctcGgttaacctgcaggacccgaa	10	8	9	14	3	1	0	0	0	1	0	3	3	1	2	3	3	3	2	3	3	3	2			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr17:79827106G>A	ENST00000269321.7	-	5	493	c.358C>T	c.(358-360)Cga>Tga	p.R120*	ARHGDIA_ENST00000580685.1_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000541078.2_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000400721.4_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Nonsense_Mutation_p.R120*	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTATCTCTCGGTTAACCTGC	0.642													17	19					0	0	1	0	0	A	79827106	G	A	79827106	4	1	34	1	0	0	0	0	0	1	0	0	887	1124	39	1	264	1	ARHGDIA	17	79827106	Nonsense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08	18328450	79827106	1368104	11	592											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								21	25					0	0	1	0	0	T	3118942	A	T	3118942	3	4	34	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		3118942	56010041	12	593											
C3	718	broad.mit.edu	37	chr19	6710848	6710848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttcaacagcctgcccttGttcatgatctggggggacag	7	10	12	12	0	3	1	2	1	1	0	3	2	3	2	3	3	3	1	3	3	1	3			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr19:6710848G>T	ENST00000245907.6	-	13	1580	c.1488C>A	c.(1486-1488)aaC>aaA	p.N496K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	496					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		GCCTGCCCTTGTTCATGATCT	0.667													15	10					2.32078e-09	2.32078e-09	1	1	0	T	6710848	G	T	6710848	3	4	34	1	0	0	0	0	1	0	0	0	2218	1368	48	5	3619	5	C3	19	6710848	Missense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08	3591906	6710848	52418135	13	594											
GNB1	2782	broad.mit.edu	37	chr1	1735887	1735887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagctcacgactcacgCgcacgttcccctcacgagtt	7	8	8	18	5	3	0	3	0	0	0	4	2	4	0	3	0	2	4	3	0	0	2			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr1:1735887C>T	ENST00000378609.4	-	7	732	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	134					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ACGACTCACGCGCACGTTCCC	0.493													16	22					0	0	1	0	0	T	1735887	C	T	1735887	3	4	35	1	0	0	0	0	1	0	0	0	6557	768	27	1	641	1	GNB1	1	1735887	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		1735887	247514734	1	595											
DNAH11	8701	broad.mit.edu	37	chr7	21611562	21611562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactttttaaacagagcActtatgacccatctgattgc	13	13	6	9	0	1	3	0	2	1	1	1	3	1	3	1	0	4	2	1	0	5	6	rs34832072		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr7:21611562A>G	ENST00000328843.6	+	8	1595	c.1564A>G	c.(1564-1566)Act>Gct	p.T522A	DNAH11_ENST00000409508.3_Missense_Mutation_p.T522A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	522	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAACAGAGCACTTATGACCC	0.368									Kartagener syndrome				10	6					0	0	1	0	0	G	21611562	A	G	21611562	3	3	35	1	0	0	0	0	1	0	0	0	4627	159	6	4	1594	4	DNAH11	7	21611562	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		21611562	137527101	2	596											
PSD3	23362	broad.mit.edu	37	chr8	18729316	18729316	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctcagttaaactacttGaattacacaaaccagctgat	15	12	4	10	0	1	2	1	2	1	0	2	2	1	2	1	0	5	2	1	0	6	5			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr8:18729316G>T	ENST00000440756.2	-	3	1160	c.1058C>A	c.(1057-1059)tCa>tAa	p.S353*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.S288*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.S353*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	353					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)		TAAACTACTTGAATTACACAA	0.468													3	56					0.115264	0.115264	1	1	0	T	18729316	G	T	18729316	4	4	35	1	0	0	0	0	0	1	0	0	12697	1294	45	5	2177	5	PSD3	8	18729316	Nonsense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		18729316	127634706	3	597											
SCRIB	23513	broad.mit.edu	37	chr8	144887324	144887324	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcctttcccaccagcAatgctgaagcccagccccct	8	7	9	17	0	0	1	0	1	0	0	1	2	1	2	6	1	5	2	6	1	2	1			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr8:144887324A>G	ENST00000356994.2	-	19	2634	c.2628T>C	c.(2626-2628)atT>atC	p.I876I	SCRIB_ENST00000320476.3_Silent_p.I876I|SCRIB_ENST00000377533.3_Silent_p.I795I	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	876	Interaction with ARHGEF7.|PDZ 2.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCCACCAGCAATGCTGAAGC	0.721													3	12					0	0	1	0	0	G	144887324	A	G	144887324	2	3	35	1	0	0	0	0	0	0	0	1	13991	126	5	4		4	SCRIB	8	144887324	Silent	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08	126158008	144887324	1476698	4	598											
PTPRD	5789	broad.mit.edu	37	chr9	8389348	8389348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtgttgcaatataggCattttgcttcctatacccat	8	16	6	11	0	0	0	0	0	0	0	2	0	2	0	3	1	3	4	3	1	5	8			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:8389348C>T	ENST00000381196.4	-	34	4813	c.4270G>A	c.(4270-4272)Gcc>Acc	p.A1424T	PTPRD_ENST00000537002.1_Missense_Mutation_p.A1014T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1017T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1411T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1018T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1402T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1424T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1014T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1424T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1424	Tyrosine-protein phosphatase 1.				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)		GCAATATAGGCATTTTGCTTC	0.443										TSP Lung(15;0.13)			9	92					0	0	1	0	0	T	8389348	C	T	8389348	3	4	35	1	0	0	0	0	1	0	0	0	12851	710	25	2	1508	2	PTPRD	9	8389348	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		8389348	132824083	5	599											
PSIP1	11168	broad.mit.edu	37	chr9	15506612	15506612	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtgggtggctttacAgctccatcaggaacttcgtc	6	15	11	9	1	1	0	1	0	0	0	4	1	2	1	1	3	3	3	1	3	2	5			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:15506612A>T	ENST00000380733.4	-	3	439	c.96T>A	c.(94-96)gcT>gcA	p.A32A	PSIP1_ENST00000397519.2_Silent_p.A32A|PSIP1_ENST00000380716.4_Silent_p.A32A|PSIP1_ENST00000380738.4_Silent_p.A32A|PSIP1_ENST00000380715.1_Silent_p.A32A|PSIP1_ENST00000484265.1_5'UTR			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	32	PWWP.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTGGCTTTACAGCTCCATCAG	0.348													3	61					0	0	1	0	0	T	15506612	A	T	15506612	2	4	35	1	0	0	0	0	0	0	0	1	12712	175	7	5		5	PSIP1	9	15506612	Silent	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08	7117264	15506612	125706819	6	600											
AGAP11	119385	broad.mit.edu	37	chr10	88767686	88767686	+	RNA	DEL	T	T	-																															caaacaacagaaaatgtatcTtttttttttttttttttttg																								rs71019446		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													2	4	---	---	---	---						-	88767686	T	-	88767686	6	5	35	0	1	1	0	1	0	0	0	0	366	1624	56	0		0	AGAP11	10	88767686	RNA	DEL	T	TCGA-V4-A9F7-01A-11D-A39W-08		88767686	46767061	7	601											
HHEX	3087	broad.mit.edu	37	chr10	94452507	94452507	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaatggaggagactaaaaCaggtatggacatggttctgt	14	10	12	5	0	1	1	0	0	1	1	1	4	1	3	0	5	1	2	0	5	5	4			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr10:94452507C>T	ENST00000282728.5	+	3	2388	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	HHEX_ENST00000492654.2_Nonsense_Mutation_p.Q25*|HHEX_ENST00000472590.2_Nonsense_Mutation_p.Q25*	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	197					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GAGACTAAAACAGGTATGGAC	0.428													19	33					0	0	1	0	0	T	94452507	C	T	94452507	4	4	35	1	0	0	0	0	0	1	0	0	7132	479	17	3	599	3	HHEX	10	94452507	Nonsense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	5684821	94452507	41082240	8	602											
OR51L1	119682	broad.mit.edu	37	chr11	5020297	5020297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatgttcattcttggCtctccatcctcttctgtctt	4	19	7	11	0	6	0	1	0	5	0	8	1	7	1	2	2	0	3	2	2	1	6			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr11:5020297C>A	ENST00000321543.1	+	1	85	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATTCTTGGCTCTCCATCCT	0.433													7	90					0.00198382	0.00207007	1	1	0	A	5020297	C	A	5020297	3	1	35	1	0	0	0	0	1	0	0	0	11150	797	28	5	87	5	OR51L1	11	5020297	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		5020297	129986219	9	603											
COL2A1	1280	broad.mit.edu	37	chr12	48372483	48372483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggccgctgtctcctcgaGcacctttgggaccatctttt	4	12	12	13	2	2	0	0	0	2	0	4	2	2	1	4	3	1	2	4	3	0	3			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr12:48372483G>T	ENST00000380518.3	-	42	2956	c.2792C>A	c.(2791-2793)gCt>gAt	p.A931D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A862D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	931	Triple-helical region.				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)	GTCTCCTCGAGCACCTTTGGG	0.637													18	17					1.99824e-07	2.17989e-07	1	1	0	T	48372483	G	T	48372483	3	4	35	1	0	0	0	0	1	0	0	0	3710	971	34	5	1723	5	COL2A1	12	48372483	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		48372483	85479412	10	604											
XRCC3	7517	broad.mit.edu	37	chr14	104169547	104169547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatgaagatctggctgccaAatcggagcttctgaagcagc	11	8	12	10	2	2	3	0	2	2	1	3	5	2	4	1	2	4	3	1	2	3	1			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr14:104169547A>G	ENST00000553264.1	-	5	1320	c.524T>C	c.(523-525)tTt>tCt	p.F175S	XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000554913.1_Missense_Mutation_p.F175S|XRCC3_ENST00000352127.7_Missense_Mutation_p.F175S|XRCC3_ENST00000445556.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555055.1_Missense_Mutation_p.F175S|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	175					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGCTGCCAAATCGGAGCTT	0.617								Direct reversal of damage;Homologous recombination					7	7					0	0	1	0	0	G	104169547	A	G	104169547	3	3	35	1	0	0	0	0	1	0	0	0	17514	14	1	4	532	4	XRCC3	14	104169547	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		104169547	3179993	11	605											
ZC3H7A	29066	broad.mit.edu	37	chr16	11846640	11846640	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgtggccctgccactGcttctcactgttgcagtttt	5	14	11	11	0	1	1	1	0	1	1	2	2	1	1	2	2	3	4	2	2	0	4			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr16:11846640G>A	ENST00000396516.2	-	21	2808	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	ZC3H7A_ENST00000575984.1_Nonsense_Mutation_p.Q67*|ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Q871*			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	871						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCCTGCCACTGCTTCTCACTG	0.517													26	40					0	0	1	0	0	A	11846640	G	A	11846640	4	1	35	1	0	0	0	0	0	1	0	0	17631	1328	46	2	312	2	ZC3H7A	16	11846640	Nonsense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		11846640	78508113	12	606											
AZI1	22994	broad.mit.edu	37	chr17	79166611	79166611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgttgctgctgcagcGcccactgctcctgctccagg	3	9	12	17	2	0	0	0	0	0	0	2	0	2	0	4	1	7	7	4	1	0	1			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr17:79166611G>A	ENST00000269392.4	-	19	2610	c.2363C>T	c.(2362-2364)gCg>gTg	p.A788V	AZI1_ENST00000374782.3_Intron|AZI1_ENST00000450824.2_Missense_Mutation_p.A785V|AZI1_ENST00000575907.1_Intron	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	788					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ctgctgcagcgcccactgctc	0.736													10	12					0	0	1	0	0	A	79166611	G	A	79166611	3	1	35	1	0	0	0	0	1	0	0	0	1238	1087	38	1	920	1	AZI1	17	79166611	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		79166611	2028599	13	607											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								20	16					0	0	1	0	0	T	3118942	A	T	3118942	3	4	35	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		3118942	56010041	14	608											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	12	14	8	7	0	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	2	5	7			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290Y(2)		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						TCCTCAGACTATAGATAAAGG	0.478													3	71					0	0	1	0	0	G	14938184	A	G	14938184	2	3	35	1	0	0	0	0	0	0	0	1	11263	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08	11819242	14938184	44190799	15	609											
CRLF1	9244	broad.mit.edu	37	chr19	18704909	18704909	+	Frame_Shift_Del	DEL	C	C	-																															cgtctgcccgagggcaggatCccctcgtcctgtgcttggaa																										TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:18704909delC	ENST00000392386.3	-	8	1414	c.1221delG	c.(1219-1221)gggfs	p.G407fs	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	407					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGGCAGGATCCCCTCGTCCT	0.687													2	4	---	---	---	---						-	18704909	C	-	18704909	7	5	35	1	0	1	0	1	0	0	0	0	3909	842	30	0	55	0	CRLF1	19	18704909	Frame_Shift_Del	DEL	C	TCGA-V4-A9F7-01A-11D-A39W-08	3766725	18704909	40424074	16	610											
ZNF628	89887	broad.mit.edu	37	chr19	55993184	55993184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcccttccgctgcccgctCtgccccaagaccttcaccca	5	7	7	22	3	2	1	1	0	1	1	3	1	3	1	7	1	2	2	7	1	1	2			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:55993184C>T	ENST00000391718.2	+	3	1177	c.612C>T	c.(610-612)ctC>ctT	p.L204L	ZNF628_ENST00000598519.1_Silent_p.L208L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	204						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCTGCCCGCTCTGCCCCAAGA	0.736													5	5					0	0	1	0	0	T	55993184	C	T	55993184	2	4	35	1	0	0	0	0	0	0	0	1	18109	900	32	3		3	ZNF628	19	55993184	Silent	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	37288275	55993184	3135799	17	611											
BRD1	23774	broad.mit.edu	37	chr22	50216676	50216676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctttcttagcctttttTgccttcttcctgaccttgga	5	18	7	11	0	2	2	0	1	2	1	3	3	3	3	4	1	3	1	4	1	1	8			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr22:50216676T>C	ENST00000216267.8	-	1	1776	c.1290A>G	c.(1288-1290)gcA>gcG	p.A430A	BRD1_ENST00000542442.1_Silent_p.A69A|BRD1_ENST00000457780.2_Silent_p.A430A|BRD1_ENST00000404760.1_Silent_p.A430A|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404034.1_Silent_p.A430A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	430					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAGCCTTTTTTGCCTTCTTCC	0.517													67	52					0	0	1	0	0	C	50216676	T	C	50216676	2	2	35	1	0	0	0	0	0	0	0	1	1503	1799	63	4		4	BRD1	22	50216676	Silent	SNP	T	TCGA-V4-A9F7-01A-11D-A39W-08		50216676	1087890	18	612											
NHS	4810	broad.mit.edu	37	chrX	17744069	17744069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatctccacggctggcGtcctccttagcagccacatg	7	9	9	16	2	1	0	0	0	1	0	4	0	3	0	4	2	3	3	4	2	1	1			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chrX:17744069G>A	ENST00000380060.3	+	6	2118	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	NHS_ENST00000398097.3_Missense_Mutation_p.V438I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	594						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)					CACGGCTGGCGTCCTCCTTAG	0.592													43	49					0	0	1	0	0	A	17744069	G	A	17744069	3	1	35	1	0	0	0	0	1	0	0	0	10458	1145	40	1	1907	1	NHS	23	17744069	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		17744069	137526491	19	613											
EIF1AX	1964	broad.mit.edu	37	chrX	20156713	20156713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	6	18	4	13	1	4	1	2	0	3	1	5	1	4	1	3	0	3	1	3	0	2	7			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													16	53					0	0	1	0	0	T	20156713	C	T	20156713	3	4	35	1	0	0	0	0	1	0	0	0	5018	507	18	3	414	3	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	2412644	20156713	135113847	20	614											
SLC30A1	7779	broad.mit.edu	37	chr1	211749275	211749275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggttgtgtaaagaagtaTacaaaccattacaacacaaa	20	9	6	6	0	0	1	0	0	0	1	0	1	0	1	1	1	4	3	1	1	10	6			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr1:211749275T>C	ENST00000367001.4	-	2	1108	c.979A>G	c.(979-981)Ata>Gta	p.I327V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	327					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TAAAGAAGTATACAAACCATT	0.318													40	51					0	0	1	0	0	C	211749275	T	C	211749275	3	2	36	1	0	0	0	0	1	0	0	0	14608	1406	49	4	548	4	SLC30A1	1	211749275	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		211749275	37501346	1	615											
DYNC1I2	1781	broad.mit.edu	37	chr2	172600667	172600667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggatggcatggggagaTtggatttgtggaatctcaat	9	13	16	3	0	1	1	1	0	1	1	2	5	1	4	0	6	0	1	0	6	2	2			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:172600667T>C	ENST00000534253.2	+	16	1813	c.1645T>C	c.(1645-1647)Ttg>Ctg	p.L549L	DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000410079.3_Silent_p.L541L|DYNC1I2_ENST00000397119.3_Silent_p.L549L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000409453.1_Silent_p.L549L			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	549					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CATGGGGAGATTGGATTTGTG	0.368													4	21					0	0	1	0	0	C	172600667	T	C	172600667	2	2	36	1	0	0	0	0	0	0	0	1	4869	1490	52	4		4	DYNC1I2	2	172600667	Silent	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		172600667	70598706	2	616											
SPEG	10290	broad.mit.edu	37	chr2	220344823	220344823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtttgtagcacccgagaTtgtcaatcagagccccgtgt	9	11	11	10	2	2	3	2	1	0	2	2	4	2	3	3	0	2	3	3	0	2	3			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:220344823T>C	ENST00000312358.7	+	25	5435	c.5303T>C	c.(5302-5304)aTt>aCt	p.I1768T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1768	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCACCCGAGATTGTCAATCAG	0.607													21	35					0	0	1	0	0	C	220344823	T	C	220344823	3	2	36	1	0	0	0	0	1	0	0	0	15092	1493	52	4	5413	4	SPEG	2	220344823	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08	47744156	220344823	22854550	3	617											
BAP1	8314	broad.mit.edu	37	chr3	52442542	52442542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcaatcacggacgtaTcatccaccaaggtagagacc	14	7	7	13	2	4	1	4	0	0	1	5	3	5	2	3	2	0	2	3	2	4	2			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:52442542T>C	ENST00000460680.1	-	4	674	c.203A>G	c.(202-204)gAt>gGt	p.D68G	BAP1_ENST00000296288.5_Missense_Mutation_p.D68G	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	68					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		CACGGACGTATCATCCACCAA	0.502			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							10	1					0	0	1	0	0	C	52442542	T	C	52442542	3	2	36	1	0	0	0	0	1	0	0	0	1309	1435	50	4	2042	4	BAP1	3	52442542	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		52442542	145579888	4	618											
B4GALT4	8702	broad.mit.edu	37	chr3	118945808	118945808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattcctgagggcgataccGgcctctggacactttgggat	8	10	12	11	2	1	1	0	1	1	0	2	4	2	3	3	4	1	0	3	4	1	3			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:118945808G>A	ENST00000467604.1	-	4	725	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000483209.1_Missense_Mutation_p.R112W|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	112					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGCGATACCGGCCTCTGGAC	0.502													20	10					0	0	1	0	0	A	118945808	G	A	118945808	3	1	36	1	0	0	0	0	1	0	0	0	1271	1115	39	1	720	1	B4GALT4	3	118945808	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08	66503266	118945808	79076622	5	619											
PODXL2	50512	broad.mit.edu	37	chr3	127391153	127391153	+	Frame_Shift_Del	DEL	G	G	-																															tcgtggagaacggctgccacGacaaccccacgctggacgtg																										TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:127391153delG	ENST00000342480.6	+	8	1687	c.1648delG	c.(1648-1650)gacfs	p.D550fs		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	550					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						CGGCTGCCACGACAACCCCAC	0.726													2	4	---	---	---	---						-	127391153	G	-	127391153	7	5	36	1	0	1	0	1	0	0	0	0	12229	1058	37	0	1678	0	PODXL2	3	127391153	Frame_Shift_Del	DEL	G	TCGA-V4-A9F8-01A-11D-A39W-08	8445345	127391153	70631277	6	620											
N4BP2	55728	broad.mit.edu	37	chr4	40146262	40146262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatttagggtactcttcAtgagcagaagatgaaagaag	15	11	11	4	0	2	6	1	3	1	3	2	6	2	6	0	1	2	2	0	1	6	5			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr4:40146262A>C	ENST00000261435.6	+	16	5401	c.4985A>C	c.(4984-4986)cAt>cCt	p.H1662P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1662						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						GGTACTCTTCATGAGCAGAAG	0.433													57	52					0	0	1	0	0	C	40146262	A	C	40146262	3	2	36	1	0	0	0	0	1	0	0	0	10158	217	8	5	5039	5	N4BP2	4	40146262	Missense_Mutation	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		40146262	151008014	7	621											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576198	33576198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccagtgtgcagagccgtgGccgtttgtgagctgcttgta	6	12	14	9	2	0	2	0	1	0	1	1	2	1	2	3	1	4	5	3	1	1	3			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:33576198G>A	ENST00000504830.1	-	19	4268	c.3933C>T	c.(3931-3933)ggC>ggT	p.G1311G	ADAMTS12_ENST00000352040.3_Silent_p.G1226G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1311	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGAGCCGTGGCCGTTTGTGA	0.473										HNSCC(64;0.19)			13	102					0	0	1	0	0	A	33576198	G	A	33576198	2	1	36	1	0	0	0	0	0	0	0	1	256	1190	42	2		2	ADAMTS12	5	33576198	Silent	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		33576198	147339062	8	622											
IQGAP2	10788	broad.mit.edu	37	chr5	75969313	75969313	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagaacaagctctaacAtacccagaagtgaaaaataa	21	5	5	10	0	1	3	0	1	1	2	1	3	1	3	2	0	4	1	2	0	8	3			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:75969313A>G	ENST00000274364.6	+	25	3405	c.3108A>G	c.(3106-3108)acA>acG	p.T1036T	IQGAP2_ENST00000379730.3_Silent_p.T538T|IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000502745.1_Silent_p.T532T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1036	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGCTCTAACATACCCAGAAG	0.413													9	72					0	0	1	0	0	G	75969313	A	G	75969313	2	3	36	1	0	0	0	0	0	0	0	1	7859	204	8	4		4	IQGAP2	5	75969313	Silent	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08	42393115	75969313	104945947	9	623											
ANKRD6	22881	broad.mit.edu	37	chr6	90327729	90327737	+	In_Frame_Del	DEL	TCTCCTTAC	TCTCCTTAC	-																															aataacccggaagttgctctTctccttactaaagctcccca																										TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:90327729_90327737delTCTCCTTAC	ENST00000369408.5	+	9	1120_1128	c.771_779delTCTCCTTAC	c.(769-780)cttctccttact>ctt	p.LLT258del	ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000522441.1_In_Frame_Del_p.LLT258del	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	258							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AAGTTGCTCTTCTCCTTACTAAAGCTCCC	0.536													32	68	---	---	---	---						-	90327737	TCTCCTTAC	-	90327729	7	5	36	1	0	1	0	1	0	0	0	0	679	1770	62	0	801	0	ANKRD6	6	90327729	In_Frame_Del	DEL	TCTCCTTAC	TCGA-V4-A9F8-01A-11D-A39W-08		90327729	80787338	10	624											
ING3	54556	broad.mit.edu	37	chr7	120609120	120609121	+	Frame_Shift_Ins	INS	-	-	TAAT																															agttatgaagcatttaagaaINStaatgactttcagttgggaa																										TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr7:120609120_120609121insTAAT	ENST00000315870.5	+	9	918_919	c.770_771insTAAT	c.(769-774)aataatfs	p.-258fs	ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GCATTTAAGAATAATGACTTTC	0.342													16	44	---	---	---	---						TAAT	120609121	-	TAAT	120609120	7	5	36	1	0	1	1	0	0	0	0	0	7781	101	4	0	820	0	ING3	7	120609120	Frame_Shift_Ins	INS	-	TCGA-V4-A9F8-01A-11D-A39W-08		120609120	38529543	11	625											
XKR4	114786	broad.mit.edu	37	chr8	56015469	56015469	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactactacctgcgcggcCagcgctggtggttcgggctc	4	9	15	13	4	0	0	0	0	0	0	2	1	0	1	2	5	4	3	2	5	2	3			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:56015469C>T	ENST00000327381.6	+	1	521	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTGCGCGGCCAGCGCTGGTG	0.637													12	91					0	0	1	0	0	T	56015469	C	T	56015469	4	4	36	1	0	0	0	0	0	1	0	0	17493	595	21	3	423	3	XKR4	8	56015469	Nonsense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		56015469	90348553	12	626											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								35	40					0	0	1	0	0	G	80409488	T	G	80409488	3	3	36	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		80409488	60803943	13	627											
CCDC89	220388	broad.mit.edu	37	chr11	85397134	85397134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggggcggggtgtccaTcctgggagcctgctgtttct	3	12	16	10	1	2	0	1	0	1	0	4	1	4	1	3	5	2	2	3	5	0	2			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr11:85397134T>G	ENST00000316398.3	-	1	186	c.40A>C	c.(40-42)Atg>Ctg	p.M14L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	14						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)				GGGGTGTCCATCCTGGGAGCC	0.522													11	61					0	0	1	0	0	G	85397134	T	G	85397134	3	3	36	1	0	0	0	0	1	0	0	0	2886	1435	50	5	1088	5	CCDC89	11	85397134	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		85397134	49609382	14	628											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189953	50189953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccccctaaaggtgctccGagaaaggtccagaatgttct	11	8	11	11	1	1	2	0	0	1	2	3	3	3	2	4	3	1	2	4	3	4	2			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr12:50189953G>A	ENST00000335999.6	-	8	1891	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	560	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AAGGTGCTCCGAGAAAGGTCC	0.617													16	17					0	0	1	0	0	A	50189953	G	A	50189953	3	1	36	1	0	0	0	0	1	0	0	0	10271	1057	37	1	2338	1	NCKAP5L	12	50189953	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		50189953	83661942	15	629											
GPC5	2262	broad.mit.edu	37	chr13	93518657	93518658	+	Frame_Shift_Ins	INS	-	-	T																															atctatgacattcactctgaINStaagtgtggtgatgttactt																										TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr13:93518657_93518658insT	ENST00000377067.3	+	8	2056_2057	c.1684_1685insT	c.(1684-1686)atafs	p.I562fs		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	562						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)				ATTCACTCTGATAAGTGTGGTG	0.446													90	59	---	---	---	---						T	93518658	-	T	93518657	7	5	36	1	0	1	1	0	0	0	0	0	6641	333	12	0	1714	0	GPC5	13	93518657	Frame_Shift_Ins	INS	-	TCGA-V4-A9F8-01A-11D-A39W-08		93518657	21651221	16	630											
C16orf62	57020	broad.mit.edu	37	chr16	19621674	19621674	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcctgccccggttgacAtgcatgatcagagggatcgg	8	8	15	10	2	1	3	1	2	0	1	2	5	1	4	3	3	3	2	3	3	0	1			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr16:19621674A>C	ENST00000438132.3	+	12	1275	c.1227A>C	c.(1225-1227)acA>acC	p.T409T	C16orf62_ENST00000251143.5_Silent_p.T320T|C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000417362.2_Silent_p.T320T|C16orf62_ENST00000543152.1_Silent_p.T69T|C16orf62_ENST00000542263.1_Silent_p.T409T	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	320						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						CCCGGTTGACATGCATGATCA	0.522													13	11					0	0	1	0	0	C	19621674	A	C	19621674	2	2	36	1	0	0	0	0	0	0	0	1	1832	204	8	5		5	C16orf62	16	19621674	Silent	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		19621674	70733079	17	631											
TRPV2	51393	broad.mit.edu	37	chr17	16320989	16320989	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcctaggatgaccTcaccctccagctctccagtt	6	11	5	19	0	2	1	1	1	1	0	7	2	6	2	7	1	1	2	7	1	1	2			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:16320989T>G	ENST00000338560.7	+	2	406	c.7T>G	c.(7-9)Tca>Gca	p.S3A	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	3	Required for interaction with SLC50A1 (By similarity).				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)		TAGGATGACCTCACCCTCCAG	0.582													8	76					0	0	1	0	0	G	16320989	T	G	16320989	3	3	36	1	0	0	0	0	1	0	0	0	16657	1551	54	5	9	5	TRPV2	17	16320989	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		16320989	64874221	18	632											
SMCR8	140775	broad.mit.edu	37	chr17	18221249	18221249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccttaaaattcatccgcCagtacccctttgcccaccca	10	9	4	18	2	1	0	1	0	0	0	2	0	2	0	7	0	2	1	7	0	3	4			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:18221249C>A	ENST00000406438.3	+	1	2626	c.2146C>A	c.(2146-2148)Cag>Aag	p.Q716K		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	716										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTCATCCGCCAGTACCCCTT	0.562													16	46					4.75885e-15	5.12491e-15	1	1	0	A	18221249	C	A	18221249	3	1	36	1	0	0	0	0	1	0	0	0	14846	595	21	5	2148	5	SMCR8	17	18221249	Missense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08	1900260	18221249	62973961	19	633											
RYR1	6261	broad.mit.edu	37	chr19	38951204	38951204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctctcacacaccgacttCgtgccctgccctgtggacac	6	9	8	18	2	1	0	1	0	1	0	3	2	1	1	4	1	3	0	4	1	0	1			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr19:38951204C>T	ENST00000355481.4	+	20	2681	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000359596.3_Silent_p.F850F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	850	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	ACACCGACTTCGTGCCCTGCC	0.637													21	46					0	0	1	0	0	T	38951204	C	T	38951204	2	4	36	1	0	0	0	0	0	0	0	1	13820	883	31	1		1	RYR1	19	38951204	Silent	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		38951204	20177779	20	634											
MED12	9968	broad.mit.edu	37	chrX	70339611	70339611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgacactggtcgcaggaagCcccaagtgaaccagaaggat	13	5	12	11	1	0	3	0	2	0	1	1	5	0	5	3	3	2	1	3	3	4	0			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chrX:70339611C>T	ENST00000333646.6	+	3	479	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	MED12_ENST00000374102.1_Missense_Mutation_p.P94S|MED12_ENST00000374080.3_Missense_Mutation_p.P94S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	94					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCGCAGGAAGCCCCAAGTGAA	0.493			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						12	0					0	0	1	0	0	T	70339611	C	T	70339611	3	4	36	1	0	0	0	0	1	0	0	0	9478	739	26	2	290	2	MED12	23	70339611	Missense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		70339611	84930949	21	635											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209953826	209953826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttttagatcaggctttgCccgtgtggagtccaaagtcc	7	14	10	10	1	1	1	1	0	0	1	3	2	3	2	3	2	1	1	3	2	2	4			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr1:209953826C>T	ENST00000367024.1	+	15	1840	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P442S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P422S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	442						integral to membrane	protein binding			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)		TCAGGCTTTGCCCGTGTGGAG	0.537													4	95					0	0	1	0	0	T	209953826	C	T	209953826	3	4	37	1	0	0	0	0	1	0	0	0	16503	739	26	2	1374	2	TRAF3IP3	1	209953826	Missense_Mutation	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08		209953826	39296795	1	636											
IWS1	55677	broad.mit.edu	37	chr2	128283769	128283769	+	Frame_Shift_Del	DEL	A	A	-																															acctgactggtcgccgctgtAatattccgagtccatggcag																										TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr2:128283769delA	ENST00000295321.4	-	1	275	c.16delT	c.(16-18)tacfs	p.Y6fs	IWS1_ENST00000455721.2_Intron|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	6					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCGCCGCTGTAATATTCCGAG	0.736													2	4	---	---	---	---						-	128283769	A	-	128283769	7	5	37	1	0	1	0	1	0	0	0	0	7975	362	13	0	2499	0	IWS1	2	128283769	Frame_Shift_Del	DEL	A	TCGA-VD-A8K7-01B-11D-A39W-08		128283769	114915604	2	637											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	17	7	9	8	2	0	1	0	0	0	1	2	1	0	1	1	2	2	4	1	2	8	2			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													4	66					0	0	1	0	0	A	150715311	G	A	150715311	3	1	37	1	0	0	0	0	1	0	0	0	7976	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-VD-A8K7-01B-11D-A39W-08		150715311	20399756	3	638											
SYNE1	23345	broad.mit.edu	37	chr6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagctgccttgttgccGcagaaacactttttctttga	8	15	9	9	1	1	2	0	1	1	1	1	3	1	2	2	0	4	4	2	0	2	6			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr6:152527476G>A	ENST00000367255.5	-	126	23447	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2140W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7228W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7616W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7616					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)			3	50					0	0	1	0	0	A	152527476	G	A	152527476	3	1	37	1	0	0	0	0	1	0	0	0	15502	1086	38	1	3704	1	SYNE1	6	152527476	Missense_Mutation	SNP	G	TCGA-VD-A8K7-01B-11D-A39W-08	1812165	152527476	18587591	4	639											
CCDC126	90693	broad.mit.edu	37	chr7	23651026	23651026	+	Missense_Mutation	SNP	A	A	G																															ttggggattgatgttactgcActatacttttcaacaaccaa																										TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr7:23651026A>G	ENST00000307471.3	+	3	549	c.92A>G	c.(91-93)cAc>cGc	p.H31R	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.H31R|CCDC126_ENST00000409765.1_Missense_Mutation_p.H31R	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	31						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ATGTTACTGCACTATACTTTT	0.338													27	28					0	0	1	0	0	G	23651026	A	G	23651026	3	3	37	1	0	0	0	0	1	0	0	0	2780	159	6	4	94	4	CCDC126	7	23651026	Missense_Mutation	SNP	A	TCGA-VD-A8K7-01B-11D-A39W-08		23651026	135487637	5	640	6	2									
CCDC126	90693	broad.mit.edu	37	chr7	23651027	23651027	+	Silent	SNP	C	C	T																															tggggattgatgttactgcaCtatacttttcaacaaccaag																										TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr7:23651027C>T	ENST00000307471.3	+	3	550	c.93C>T	c.(91-93)caC>caT	p.H31H	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Silent_p.H31H|CCDC126_ENST00000409765.1_Silent_p.H31H	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	31						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TGTTACTGCACTATACTTTTC	0.338													27	28					0	0	1	0	0	T	23651027	C	T	23651027	2	4	37	1	0	0	0	0	0	0	0	1	2780	564	20	3		3	CCDC126	7	23651027	Silent	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08	1	23651027	135487636	6	641	6	2									
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								27	40					0	0	1	0	0	A	80409488	T	A	80409488	3	1	37	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8K7-01B-11D-A39W-08		80409488	60803943	7	642											
PAPSS2	9060	broad.mit.edu	37	chr10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaacaacgataagttttgCcctggaggagtaccttgtct	13	11	9	8	1	1	0	0	0	1	0	1	3	1	2	2	2	4	2	2	2	5	5			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473													4	131					0	0	1	0	0	T	89472868	C	T	89472868	3	4	37	1	0	0	0	0	1	0	0	0	11482	739	26	2	192	2	PAPSS2	10	89472868	Missense_Mutation	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08		89472868	46061879	8	643											
RHBDL3	162494	broad.mit.edu	37	chr17	30615819	30615819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcctgcacagatgagcaaCaagcgttccaacagcttccg	11	9	8	13	2	0	2	0	1	0	1	3	2	3	2	3	0	6	4	3	0	3	3			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr17:30615819C>T	ENST00000269051.4	+	4	317	c.303C>T	c.(301-303)aaC>aaT	p.N101N	RHBDL3_ENST00000538145.1_Silent_p.N93N|RHBDL3_ENST00000536287.1_Silent_p.N3N	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	101	EF-hand 2.				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)				AGATGAGCAACAAGCGTTCCA	0.637													5	1					0	0	1	0	0	T	30615819	C	T	30615819	2	4	37	1	0	0	0	0	0	0	0	1	13373	477	17	3		3	RHBDL3	17	30615819	Silent	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08		30615819	50579391	9	644											
NRK	203447	broad.mit.edu	37	chrX	105124216	105124216	+	Frame_Shift_Del	DEL	T	T	-																															ttcatgagaagactggtgcaTttacagctgttaaagtgatg																										TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chrX:105124216delT	ENST00000428173.2	+	3	451	c.148delT	c.(148-150)tttfs	p.F50fs	NRK_ENST00000536164.1_Frame_Shift_Del_p.F50fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.F50fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	50	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTGGTGCATTTACAGCTGT	0.378										HNSCC(51;0.14)			2	4	---	---	---	---						-	105124216	T	-	105124216	7	5	37	1	0	1	0	1	0	0	0	0	10703	1493	52	0	158	0	NRK	23	105124216	Frame_Shift_Del	DEL	T	TCGA-VD-A8K7-01B-11D-A39W-08		105124216	50146344	10	645											
PAX7	5081	broad.mit.edu	37	chr1	19029758	19029758	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcgccctccaaccacAtgaacccggtcagcaacggc	9	3	11	18	5	1	1	1	1	0	0	2	1	2	1	4	4	4	1	4	4	3	0			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr1:19029758A>C	ENST00000420770.2	+	7	1206	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	PAX7_ENST00000375375.3_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	375					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTCCAACCACATGAACCCGGT	0.632			T	FOXO1A	alveolar rhabdomyosarcoma								12	21					0	0	1	0	0	C	19029758	A	C	19029758	3	2	38	1	0	0	0	0	1	0	0	0	11531	217	8	5	1149	5	PAX7	1	19029758	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		19029758	230220863	1	646											
WDR75	84128	broad.mit.edu	37	chr2	190331249	190331249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagcccaccttggttaCagctagcaaagatggttact	12	10	9	10	0	0	2	0	1	0	1	0	2	0	2	2	2	6	4	2	2	5	4			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr2:190331249C>A	ENST00000314761.4	+	13	1448	c.1388C>A	c.(1387-1389)aCa>aAa	p.T463K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	463						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ACCTTGGTTACAGCTAGCAAA	0.338													3	45					1	1	1	1	0	A	190331249	C	A	190331249	3	1	38	1	0	0	0	0	1	0	0	0	17385	478	17	5	1438	5	WDR75	2	190331249	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		190331249	52868124	2	647											
SOX14	8403	broad.mit.edu	37	chr3	137484271	137484271	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaccctgcagcccccCgtcgcctacatcctcttccc	4	8	5	24	2	1	0	0	0	1	0	5	0	4	0	9	0	3	1	9	0	1	2			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:137484271C>G	ENST00000306087.1	+	1	693	c.645C>G	c.(643-645)ccC>ccG	p.P215P		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	215					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						TGCAGCCCCCCGTCGCCTACA	0.662													9	5					0	0	1	0	0	G	137484271	C	G	137484271	2	3	38	1	0	0	0	0	0	0	0	1	14999	639	23	5		5	SOX14	3	137484271	Silent	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		137484271	60538159	3	648											
SYNGAP1	8831	broad.mit.edu	37	chr6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctttgcctgtcggtctgCggccgaaagagacaaatgga	10	9	13	9	3	1	1	0	0	1	1	2	4	1	2	2	3	3	1	2	3	2	1			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr6:33403335C>T	ENST00000418600.2	+	7	808	c.707C>T	c.(706-708)gCg>gTg	p.A236V	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTCGGTCTGCGGCCGAAAGA	0.507													4	124					0	0	1	0	0	T	33403335	C	T	33403335	3	4	38	1	0	0	0	0	1	0	0	0	15504	768	27	1	733	1	SYNGAP1	6	33403335	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		33403335	137711732	4	649											
TRIM4	89122	broad.mit.edu	37	chr7	99489863	99489863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggccggaggcgtgagaCagaagaacaagaaaaggtgt	17	4	15	5	2	0	4	0	1	0	4	0	6	0	5	1	4	1	0	1	4	6	0			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr7:99489863C>T	ENST00000355947.2	-	7	1555	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	476	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCGTGAGACAGAAGAACAA	0.502													18	38					0	0	1	0	0	T	99489863	C	T	99489863	3	4	38	1	0	0	0	0	1	0	0	0	16575	478	17	3	80	3	TRIM4	7	99489863	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		99489863	59648800	5	650											
CSMD1	64478	broad.mit.edu	37	chr8	3263679	3263679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accgagctcccgagtagaaaCctgtcaccaaaacgtcgtcc	12	6	8	15	4	1	1	1	0	0	1	4	3	3	1	5	0	3	2	5	0	4	1			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:3263679C>T	ENST00000602557.1	-	16	2694	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	CSMD1_ENST00000520002.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000400186.3_Silent_p.R713R|CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	713	Sushi 4.					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)		CGAGTAGAAACCTGTCACCAA	0.453													5	0					0	0	1	0	0	T	3263679	C	T	3263679	2	4	38	1	0	0	0	0	0	0	0	1	3969	506	18	3		3	CSMD1	8	3263679	Silent	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		3263679	143100343	6	651											
PDP1	54704	broad.mit.edu	37	chr8	94935040	94935040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgacatctccttggaggcGcaagttggtgatcctaattc	10	12	10	9	1	1	2	0	2	1	0	4	3	2	3	2	3	0	2	2	3	3	4	rs138553326		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:94935040G>A	ENST00000396200.3	+	3	1104	c.828G>A	c.(826-828)gcG>gcA	p.A276A	PDP1_ENST00000297598.4_Silent_p.A251A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	251					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						CCTTGGAGGCGCAAGTTGGTG	0.463													4	235					0	0	1	0	0	A	94935040	G	A	94935040	2	1	38	1	0	0	0	0	0	0	0	1	11732	1074	38	1		1	PDP1	8	94935040	Silent	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08	91671361	94935040	51428982	7	652											
MYOF	26509	broad.mit.edu	37	chr10	95111448	95111448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgtcaaaaagttccaTgataactttgggtggattct	11	15	9	6	0	3	1	2	1	1	0	4	2	4	2	1	2	1	1	1	2	3	5			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr10:95111448T>A	ENST00000371501.4	-	33	3759	c.3637A>T	c.(3637-3639)Atg>Ttg	p.M1213L	MYOF_ENST00000359263.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L|MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L			Q9NZM1	MYOF_HUMAN	myoferlin	1213	C2 4.				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						AAAAGTTCCATGATAACTTTG	0.403													25	39					0	0	1	0	0	A	95111448	T	A	95111448	3	1	38	1	0	0	0	0	1	0	0	0	10137	1464	51	5	2636	5	MYOF	10	95111448	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08		95111448	40423299	8	653											
ANKK1	255239	broad.mit.edu	37	chr11	113270063	113270063	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcctgtgtggatgcccagGaacgtgaagggtggacccct	7	7	17	10	1	0	1	0	1	0	0	0	4	0	4	4	5	2	0	4	5	2	0			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:113270063G>T	ENST00000303941.3	+	8	1466	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	458							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGCCCAGGAACGTGAAGG	0.617													4	5					0.014758	0.0161635	1	1	0	T	113270063	G	T	113270063	4	4	38	1	0	0	0	0	0	1	0	0	627	1175	41	5	1402	5	ANKK1	11	113270063	Nonsense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08		113270063	21736453	9	654											
OR10G4	390264	broad.mit.edu	37	chr11	123886874	123886874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccaacgtgatggtcaTctttgtggacattgggatag	9	12	12	8	1	3	1	2	1	1	0	3	3	3	3	1	3	2	0	1	3	2	3			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:123886874T>C	ENST00000320891.4	+	1	593	c.593T>C	c.(592-594)aTc>aCc	p.I198T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTGATGGTCATCTTTGTGGAC	0.547													46	44					0	0	1	0	0	C	123886874	T	C	123886874	3	2	38	1	0	0	0	0	1	0	0	0	10949	1435	50	4	595	4	OR10G4	11	123886874	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08	10616811	123886874	11119642	10	655											
GRIN2B	2904	broad.mit.edu	37	chr12	13717090	13717090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggctgtgcttggaggaggGgaggccgatgtccaggggct	5	8	20	8	1	0	0	0	0	0	0	1	4	1	3	2	8	1	3	2	8	0	1			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr12:13717090G>A	ENST00000609686.1	-	13	3291	c.3082C>T	c.(3082-3084)Ccc>Tcc	p.P1028S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	TTGGAGGAGGGGAGGCCGATG	0.597													14	20					0	0	1	0	0	A	13717090	G	A	13717090	3	1	38	1	0	0	0	0	1	0	0	0	6821	1232	43	3	1376	3	GRIN2B	12	13717090	Missense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08		13717090	120134805	11	656											
TBC1D3	729873	broad.mit.edu	37	chr17	36352489	36352489	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctatatgatatagcatcaAatatctcatcaacctcagat	15	13	4	9	0	4	2	4	1	1	1	5	2	4	2	1	0	3	2	1	0	7	5	rs4796259	by1000genomes	TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr17:36352489A>C	ENST00000537432.1	-	0	359				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATAGCATCAAATATCTCATC	0.388													3	49					0	0	1	0	0	C	36352489	A	C	36352489	1	2	38	1	0	0	0	0	0	0	0	0	15677	29	1	5		5	TBC1D3	17	36352489	Translation_Start_Site	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		36352489	44842721	12	657											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								20	21					0	0	1	0	0	T	3118942	A	T	3118942	3	4	38	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		3118942	56010041	13	658											
MUC16	94025	broad.mit.edu	37	chr19	9018559	9018559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccaggagagggccagCagctgtagtgggaattgaaa	13	5	15	8	0	0	2	0	1	0	1	0	4	0	3	2	3	3	4	2	3	3	2			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:9018559C>A	ENST00000397910.4	-	24	37818	c.37615G>T	c.(37615-37617)Gct>Tct	p.A12539S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12541	SEA 4.				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						AGAGGGCCAGCAGCTGTAGTG	0.428													4	86					0.014758	0.0161635	1	1	0	A	9018559	C	A	9018559	3	1	38	1	0	0	0	0	1	0	0	0	10021	710	25	5	6152	5	MUC16	19	9018559	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08	5899617	9018559	50110424	14	659											
UPK1A	11045	broad.mit.edu	37	chr19	36164371	36164371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatccctgatcaccaagcAgatgctgaccttctacagcg	10	8	7	16	1	2	3	1	2	1	1	3	3	3	3	4	0	4	2	4	0	2	2			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:36164371A>T	ENST00000222275.2	+	4	392	c.392A>T	c.(391-393)cAg>cTg	p.Q131L	UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	131					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	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)			ATCACCAAGCAGATGCTGACC	0.662													14	27					0	0	1	0	0	T	36164371	A	T	36164371	3	4	38	1	0	0	0	0	1	0	0	0	17067	188	7	5	406	5	UPK1A	19	36164371	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08	27145812	36164371	22964612	15	660											
SGSM1	129049	broad.mit.edu	37	chr22	25246302	25246302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgccgaagctgcccAacttgtccccacttgccatc	8	8	9	16	1	0	0	0	0	0	0	2	2	1	1	5	1	6	2	5	1	3	2			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr22:25246302A>T	ENST00000400358.4	+	5	415	c.358A>T	c.(358-360)Aac>Tac	p.N120Y	SGSM1_ENST00000400359.4_Missense_Mutation_p.N120Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	120	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAAGCTGCCCAACTTGTCCCC	0.483											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	8					0	0	1	0	0	T	25246302	A	T	25246302	3	4	38	1	0	0	0	0	1	0	0	0	14276	130	5	5	376	5	SGSM1	22	25246302	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		25246302	26058264	16	661											
VPS13D	55187	broad.mit.edu	37	chr1	12328815	12328815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgagagaaatccggcGcacagccactttgagaggcg	11	7	13	10	3	0	3	0	2	0	2	1	5	1	3	2	2	1	2	2	2	2	2			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr1:12328815G>A	ENST00000358136.3	+	16	1984	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	VPS13D_ENST00000356315.4_Silent_p.A618A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	618					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)		GAAATCCGGCGCACAGCCACT	0.453													4	150					0	0	1	0	0	A	12328815	G	A	12328815	2	1	39	1	0	0	0	0	0	0	0	1	17252	1074	38	1		1	VPS13D	1	12328815	Silent	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		12328815	236921806	1	662											
LCE4A	199834	broad.mit.edu	37	chr1	152681848	152681848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctggagggggctgttgCtgacctggaccaggagcagc	6	8	17	10	0	1	1	0	1	1	0	1	4	1	4	2	5	4	5	2	5	0	1			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr1:152681848C>T	ENST00000368777.1	+	2	553	c.297C>T	c.(295-297)tgC>tgT	p.C99C	LCE4A_ENST00000335535.3_Silent_p.C99C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	99	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GGGGCTGTTGCTGACCTGGAC	0.567													21	12					0	0	1	0	0	T	152681848	C	T	152681848	2	4	39	1	0	0	0	0	0	0	0	1	8713	805	28	2		2	LCE4A	1	152681848	Silent	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08	140353033	152681848	96568773	2	663											
SF3B1	23451	broad.mit.edu	37	chr2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	9	15	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	4	5			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		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)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome								18	18					0	0	1	0	0	A	198267484	G	A	198267484	3	1	39	1	0	0	0	0	1	0	0	0	14203	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		198267484	44931889	3	664											
SEC24B	10427	broad.mit.edu	37	chr4	110447472	110447472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcctgatgctggatttgCggtgcagttgtcaattgaag	9	13	12	7	1	1	2	1	2	0	0	2	3	2	3	1	2	3	3	1	2	3	3			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr4:110447472C>T	ENST00000265175.5	+	17	2937	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	961					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi 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)		GCTGGATTTGCGGTGCAGTTG	0.363													3	56					0	0	1	0	0	T	110447472	C	T	110447472	3	4	39	1	0	0	0	0	1	0	0	0	14049	768	27	1	2948	1	SEC24B	4	110447472	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		110447472	80706804	4	665											
ARID1B	57492	broad.mit.edu	37	chr6	157222625	157222625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaggcgcagtatctgcCgtcccagtcccagcagaggt	8	6	11	16	2	1	1	0	0	1	1	3	1	3	1	5	2	2	3	5	2	1	1			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr6:157222625C>A	ENST00000346085.5	+	4	1893	c.1892C>A	c.(1891-1893)cCg>cAg	p.P631Q	ARID1B_ENST00000275248.4_Missense_Mutation_p.P560Q|ARID1B_ENST00000350026.5_Missense_Mutation_p.P618Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P618Q	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	618	Gln-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)		CAGTATCTGCCGTCCCAGTCC	0.642													8	0					0.000274275	0.000274275	1	1	0	A	157222625	C	A	157222625	3	1	39	1	0	0	0	0	1	0	0	0	911	652	23	5	1906	5	ARID1B	6	157222625	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		157222625	13892442	5	666											
LRRN3	54674	broad.mit.edu	37	chr7	110763686	110763686	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagcaatatgctacacttAaaagagttggggataaataa	17	12	8	4	0	0	1	0	0	0	1	0	2	0	2	0	2	3	3	0	2	9	8			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr7:110763686A>G	ENST00000451085.1	+	4	1904	c.858A>G	c.(856-858)ttA>ttG	p.L286L	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L286L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L286L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	286						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGCTACACTTAAAAGAGTTGG	0.328													22	26					0	0	1	0	0	G	110763686	A	G	110763686	2	3	39	1	0	0	0	0	0	0	0	1	9081	359	13	4		4	LRRN3	7	110763686	Silent	SNP	A	TCGA-VD-A8K9-01A-11D-A39W-08		110763686	48374977	6	667											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								30	40					0	0	1	0	0	G	80409488	T	G	80409488	3	3	39	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		80409488	60803943	7	668											
ZDHHC6	64429	broad.mit.edu	37	chr10	114192275	114192275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttctattactttatagCgaacctgtcgtcagtgatca	11	15	6	9	2	4	1	2	1	2	0	5	2	4	1	1	0	3	0	1	0	6	6			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr10:114192275C>T	ENST00000369405.3	-	9	1373	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R313H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	317						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TACTTTATAGCGAACCTGTCG	0.378													3	57					0	0	1	0	0	T	114192275	C	T	114192275	3	4	39	1	0	0	0	0	1	0	0	0	17677	768	27	1	303	1	ZDHHC6	10	114192275	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		114192275	21342472	8	669											
PPP2R1B	5519	broad.mit.edu	37	chr11	111636064	111636064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcctttctactccaagTgctagggcaattgttgataa	9	13	10	9	1	1	1	0	1	1	0	3	1	3	1	2	2	2	3	2	2	5	6			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr11:111636064T>C	ENST00000527614.1	-	2	224	c.159A>G	c.(157-159)gcA>gcG	p.A53A	PPP2R1B_ENST00000341980.6_Silent_p.A53A|PPP2R1B_ENST00000393055.2_Silent_p.A53A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Silent_p.A53A	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	53							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)		CTACTCCAAGTGCTAGGGCAA	0.373													52	53					0	0	1	0	0	C	111636064	T	C	111636064	2	2	39	1	0	0	0	0	0	0	0	1	12432	1683	59	4		4	PPP2R1B	11	111636064	Silent	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		111636064	23370452	9	670											
FMNL3	91010	broad.mit.edu	37	chr12	50045720	50045720	+	Frame_Shift_Del	DEL	T	T	-																															gggtcgtcgtggttacctggTaatgggggaggtggaggggg																										TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr12:50045720delT	ENST00000335154.5	-	14	1832	c.1599delA	c.(1597-1599)ttafs	p.L533fs	FMNL3_ENST00000550488.1_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000293590.5_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000352151.5_Frame_Shift_Del_p.L482fs	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	533	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGTTACCTGGTAATGGGGGAG	0.632													2	4	---	---	---	---						-	50045720	T	-	50045720	7	5	39	1	0	1	0	1	0	0	0	0	5986	1635	57	0	1536	0	FMNL3	12	50045720	Frame_Shift_Del	DEL	T	TCGA-VD-A8K9-01A-11D-A39W-08		50045720	83806175	10	671											
CYP1A1	1543	broad.mit.edu	37	chr15	75015195	75015195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgctcagcaccaccacggGtgtggagccaattcggatct	8	7	12	14	3	2	0	1	0	1	0	3	2	2	2	4	3	2	2	4	3	1	1			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr15:75015195G>T	ENST00000379727.3	-	2	442	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.P82T|CYP1A1_ENST00000395049.4_Missense_Mutation_p.P82T|CYP1A1_ENST00000567032.1_Missense_Mutation_p.P82T			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	82					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACCACCACGGGTGTGGAGCCA	0.627									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				17	12					1.5739e-10	1.73957e-10	1	1	0	T	75015195	G	T	75015195	3	4	39	1	0	0	0	0	1	0	0	0	4172	1261	44	5	1318	5	CYP1A1	15	75015195	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		75015195	27516197	11	672											
WDR90	197335	broad.mit.edu	37	chr16	708649	708649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacaggccagcccaggccCccaggtgtgtgcgtggggag	7	4	16	14	1	0	0	0	0	0	0	0	1	0	1	4	5	2	0	4	5	0	0			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr16:708649C>G	ENST00000549091.1	+	23	2983	c.2891C>G	c.(2890-2892)cCc>cGc	p.P964R	WDR90_ENST00000293879.4_Missense_Mutation_p.P964R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	964										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGCCCAGGCCCCCAGGTGTGT	0.692													9	14					0	0	1	0	0	G	708649	C	G	708649	3	3	39	1	0	0	0	0	1	0	0	0	17397	623	22	5	2981	5	WDR90	16	708649	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		708649	89646104	12	673											
SLC6A4	6532	broad.mit.edu	37	chr17	28525481	28525481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtgagtgtgttacacaGcattcaagcggatgtcccca	9	10	11	11	2	1	1	1	1	0	0	3	2	2	2	2	2	3	2	2	2	2	2			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr17:28525481G>A	ENST00000401766.2	-	14	2398	c.1886C>T	c.(1885-1887)gCt>gTt	p.A629V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A629V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	629	Required for serotonin uptake activity.				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTGTTACACAGCATTCAAGCG	0.443													3	57					0	0	1	0	0	A	28525481	G	A	28525481	3	1	39	1	0	0	0	0	1	0	0	0	14741	971	34	2	10	2	SLC6A4	17	28525481	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		28525481	52669729	13	674											
WTIP	126374	broad.mit.edu	37	chr19	34991049	34991049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaggactgcgggctgcagCtgagcggggaggagggacgc	7	4	20	10	3	0	1	0	1	0	0	0	5	0	5	1	6	4	3	1	6	1	1			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr19:34991049C>T	ENST00000590071.2	+	8	1505	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	WTIP_ENST00000270288.6_Silent_p.L614L	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCTGCAGCTGAGCGGGGA	0.682													5	13					0	0	1	0	0	T	34991049	C	T	34991049	2	4	39	1	0	0	0	0	0	0	0	1	17470	796	28	2		2	WTIP	19	34991049	Silent	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		34991049	24137934	14	675											
GPATCH3	63906	broad.mit.edu	37	chr1	27223862	27223862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctccacaggggctggctGgtatatctgccaggtaggtt	6	11	14	10	0	2	0	0	0	2	0	3	0	2	0	2	6	1	6	2	6	3	4			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr1:27223862G>T	ENST00000361720.5	-	2	829	c.806C>A	c.(805-807)cCa>cAa	p.P269Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	269	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		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;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGCTGGCTGGTATATCTGC	0.517													4	86					0.150653	0.163754	1	1	0	T	27223862	G	T	27223862	3	4	40	1	0	0	0	0	1	0	0	0	6632	1348	47	5	795	5	GPATCH3	1	27223862	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		27223862	222026759	1	676											
LCE3D	84648	broad.mit.edu	37	chr1	152552268	152552268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcaggaagcagccgccctCggagctagggccacagcccc	8	4	13	16	2	1	0	1	0	0	0	2	2	1	2	5	3	4	3	5	3	2	2			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr1:152552268C>T	ENST00000368787.3	-	2	201	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	49					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CAGCCGCCCTCGGAGCTAGGG	0.672													29	54					0	0	1	0	0	T	152552268	C	T	152552268	3	4	40	1	0	0	0	0	1	0	0	0	8711	893	31	1	137	1	LCE3D	1	152552268	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08	125328406	152552268	96698353	2	677											
SELE	6401	broad.mit.edu	37	chr1	169698338	169698338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcttaccttcacaaactGggatttgctgtgtccactgc	9	12	8	12	0	1	0	1	0	0	0	2	1	2	1	2	1	5	2	2	1	3	3			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr1:169698338G>T	ENST00000333360.7	-	7	1218	c.1079C>A	c.(1078-1080)cCa>cAa	p.P360Q	SELE_ENST00000367775.1_Missense_Mutation_p.P298Q|SELE_ENST00000367776.1_Missense_Mutation_p.P360Q|SELE_ENST00000367779.4_Missense_Mutation_p.P360Q|SELE_ENST00000367774.1_Missense_Mutation_p.P360Q|SELE_ENST00000367777.1_Missense_Mutation_p.P360Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P360Q|SELE_ENST00000367780.4_Missense_Mutation_p.P298Q|SELE_ENST00000367782.4_Missense_Mutation_p.P360Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	360	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTCACAAACTGGGATTTGCTG	0.428													19	33					1.28384e-07	1.52838e-07	1	1	0	T	169698338	G	T	169698338	3	4	40	1	0	0	0	0	1	0	0	0	14067	1348	47	5	781	5	SELE	1	169698338	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	17146070	169698338	79552283	3	678											
EHD3	30845	broad.mit.edu	37	chr2	31484502	31484502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctggtcaacaacCtggccgagatctatggccgg	11	6	14	10	2	2	2	1	0	1	2	2	4	2	3	3	5	3	1	3	5	4	1			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr2:31484502C>G	ENST00000322054.5	+	5	1288	c.1003C>G	c.(1003-1005)Ctg>Gtg	p.L335V	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	335					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGTCAACAACCTGGCCGAGAT	0.567													108	87					0	0	1	0	0	G	31484502	C	G	31484502	3	3	40	1	0	0	0	0	1	0	0	0	5005	680	24	5	1021	5	EHD3	2	31484502	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		31484502	211714871	4	679											
SF3B1	23451	broad.mit.edu	37	chr2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	9	15	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	4	5			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		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)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome								28	23					0	0	1	0	0	A	198267484	G	A	198267484	3	1	40	1	0	0	0	0	1	0	0	0	14203	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	166782982	198267484	44931889	5	680											
CEP63	80254	broad.mit.edu	37	chr3	134278127	134278127	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctgagtcctcaaatCagcccttgcagctccaccag	9	7	7	18	0	2	1	2	1	0	0	4	1	4	1	6	0	4	2	6	0	1	1			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr3:134278127C>A	ENST00000337090.3	+	14	1982	c.1809C>A	c.(1807-1809)atC>atA	p.I603I	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Silent_p.I603I|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Silent_p.I603I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	603					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCCTCAAATCAGCCCTTGCA	0.453													4	156					1	1	1	1	0	A	134278127	C	A	134278127	2	1	40	1	0	0	0	0	0	0	0	1	3279	816	29	5		5	CEP63	3	134278127	Silent	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		134278127	63744303	6	681											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				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)				CTGGTGGCCAATGGAGTCCCC	0.468													4	279					0	0	1	0	0	G	72398976	A	G	72398976	3	3	40	1	0	0	0	0	1	0	0	0	12287	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08		72398976	86739687	7	682											
PAG1	55824	broad.mit.edu	37	chr8	81888821	81888821	+	Missense_Mutation	SNP	G	G	T																															ccttgctgcaagtcacttatGctctcgtagtcgttctcctt																										TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr8:81888821G>T	ENST00000220597.4	-	9	1967	c.1257C>A	c.(1255-1257)agC>agA	p.S419R		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	419					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AGTCACTTATGCTCTCGTAGT	0.512													5	84					0.00116845	0.00132778	1	1	0	T	81888821	G	T	81888821	3	4	40	1	0	0	0	0	1	0	0	0	11435	1310	46	5	45	5	PAG1	8	81888821	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		81888821	64475201	8	683	7	2	1	4		3	2	186	N	T_G	9.561265e-05
PAG1	55824	broad.mit.edu	37	chr8	81888831	81888831	+	Missense_Mutation	SNP	T	T	G																															agtcacttatgctctcgtagTcgttctcctttgggacgaga																										TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr8:81888831T>G	ENST00000220597.4	-	9	1957	c.1247A>C	c.(1246-1248)gAc>gCc	p.D416A		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	416					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GCTCTCGTAGTCGTTCTCCTT	0.532													5	93					0	0	1	0	0	G	81888831	T	G	81888831	3	3	40	1	0	0	0	0	1	0	0	0	11435	1667	58	5	55	5	PAG1	8	81888831	Missense_Mutation	SNP	T	TCGA-VD-A8KA-01B-11D-A39W-08	10	81888831	64475191	9	684	7	2	1	4		3	2	186	N	T_G	9.561265e-05
PAG1	55824	broad.mit.edu	37	chr8	81889006	81889006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttaacagtagcatagaGatcattacaggaggagggtg	13	10	13	5	0	2	1	1	0	1	1	2	4	2	3	0	3	3	2	0	3	4	5			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr8:81889006G>A	ENST00000220597.4	-	9	1782	c.1072C>T	c.(1072-1074)Ctc>Ttc	p.L358F		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	358					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GTAGCATAGAGATCATTACAG	0.507													11	94					0	0	1	0	0	A	81889006	G	A	81889006	3	1	40	1	0	0	0	0	1	0	0	0	11435	942	33	3	230	3	PAG1	8	81889006	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	175	81889006	64475016	10	685			1	4		3	2	186	N	T_G	9.561265e-05
GLIS3	169792	broad.mit.edu	37	chr9	4125772	4125772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcaggttggctgcattCattgccctctgtaagctagg	8	14	10	9	0	3	0	2	0	1	0	3	0	3	0	1	3	3	5	1	3	3	7			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr9:4125772C>A	ENST00000324333.10	-	2	286	c.93G>T	c.(91-93)atG>atT	p.M31I	GLIS3_ENST00000381971.3_Missense_Mutation_p.M186I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	31					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)		TGGCTGCATTCATTGCCCTCT	0.463													63	74					3.61411e-23	5.0196e-23	1	1	0	A	4125772	C	A	4125772	3	1	40	1	0	0	0	0	1	0	0	0	6489	826	29	5	2270	5	GLIS3	9	4125772	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		4125772	137087659	11	686											
GBA2	57704	broad.mit.edu	37	chr9	35741704	35741704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgggtgtgatctgacGgcaggtgagggtgacattct	9	10	16	6	1	2	5	0	4	2	1	2	5	2	5	0	4	0	1	0	4	1	1			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr9:35741704G>A	ENST00000378094.4	-	4	1264	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	GBA2_ENST00000378103.3_Missense_Mutation_p.R251C|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R257C			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	251					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGATCTGACGGCAGGTGAGG	0.572													65	63					0	0	1	0	0	A	35741704	G	A	35741704	3	1	40	1	0	0	0	0	1	0	0	0	6307	1116	39	1	2088	1	GBA2	9	35741704	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	31615932	35741704	105471727	12	687											
INPP5E	56623	broad.mit.edu	37	chr9	139333192	139333192	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgtgggcccgcaccAggagcggctgcgcgcggagc	4	4	19	14	5	0	0	0	0	0	0	0	2	0	2	2	5	4	4	2	5	0	0			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr9:139333192A>C	ENST00000371712.3	-	1	1082	c.680T>G	c.(679-681)cTg>cGg	p.L227R		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	227	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGCCCGCACCAGGAGCGGCTG	0.692													7	8					0	0	1	0	0	C	139333192	A	C	139333192	3	2	40	1	0	0	0	0	1	0	0	0	7801	188	7	5	1294	5	INPP5E	9	139333192	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08	103591488	139333192	1880239	13	688											
OR5L2	26338	broad.mit.edu	37	chr11	55594926	55594926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctactcctcaataattGtgccaaagatgttggctaat	11	14	7	9	0	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	5	5			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr11:55594926G>T	ENST00000378397.1	+	1	232	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCAATAATTGTGCCAAAGAT	0.458										HNSCC(27;0.073)			38	163					2.87052e-16	3.58815e-16	1	1	0	T	55594926	G	T	55594926	3	4	40	1	0	0	0	0	1	0	0	0	11218	1377	48	5	234	5	OR5L2	11	55594926	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		55594926	79411590	14	689											
SIK3	23387	broad.mit.edu	37	chr11	116729379	116729379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggggtgtaaatgcgcctgGtcgtagttagcaggggagaa	9	9	18	5	2	0	1	0	0	0	1	1	2	0	1	1	5	2	4	1	5	5	3			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr11:116729379G>T	ENST00000375300.1	-	20	2663	c.2658C>A	c.(2656-2658)gaC>gaA	p.D886E	SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.D828E|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	828	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AATGCGCCTGGTCGTAGTTAG	0.547													38	41					4.14481e-20	5.4537e-20	1	1	0	T	116729379	G	T	116729379	3	4	40	1	0	0	0	0	1	0	0	0	14374	1252	44	5	1323	5	SIK3	11	116729379	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	61134453	116729379	18277137	15	690											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								26	39					0	0	1	0	0	T	3118942	A	T	3118942	3	4	40	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08		3118942	56010041	16	691											
BAGE2	85319	broad.mit.edu	37	chr21	11085731	11085732	+	RNA	INS	-	-	ATT																															ccaccaccactaccaccaccINSaccaccaccaccatcaccac																										TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr21:11085731_11085732insATT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		ctaccaccaccaccaccaccac	0.589													2	4	---	---	---	---						ATT	11085732	-	ATT	11085731	6	5	40	0	1	1	1	0	0	0	0	0	1290	609	21	0		0	BAGE2	21	11085731	RNA	INS	-	TCGA-VD-A8KA-01B-11D-A39W-08		11085731	37044164	17	692											
OR6K3	391114	broad.mit.edu	37	chr1	158686997	158686997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacactttttgaagacagaaCagttttttaatcgcattgtt	13	16	6	6	1	0	3	0	1	0	2	1	3	0	3	0	0	2	3	0	0	4	7			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:158686997C>T	ENST00000368146.1	-	1	956	c.957G>A	c.(955-957)ctG>ctA	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAGACAGAACAGTTTTTTAA	0.388													33	36					0	0	1	0	0	T	158686997	C	T	158686997	2	4	41	1	0	0	0	0	0	0	0	1	11250	465	17	3		3	OR6K3	1	158686997	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		158686997	90563624	1	693											
NCF2	4688	broad.mit.edu	37	chr1	183529380	183529380	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcagctttttcactttccTtgggttcatctggaaagcct	7	16	7	11	0	4	0	3	0	1	0	5	1	5	1	2	2	2	2	2	2	1	5			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:183529380T>G	ENST00000413720.1	-	13	1458	c.1184A>C	c.(1183-1185)aAg>aCg	p.K395T	NCF2_ENST00000469280.1_Intron|NCF2_ENST00000367535.3_Missense_Mutation_p.K440T|NCF2_ENST00000418089.1_Missense_Mutation_p.K359T|NCF2_ENST00000367536.1_Missense_Mutation_p.K440T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	440	OPR.		R -> W (in dbSNP:rs13306575).		cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTCACTTTCCTTGGGTTCATC	0.438													34	57					0	0	1	0	0	G	183529380	T	G	183529380	3	3	41	1	0	0	0	0	1	0	0	0	10264	1609	56	5	269	5	NCF2	1	183529380	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	24842383	183529380	65721241	2	694											
C2orf16	84226	broad.mit.edu	37	chr2	27804422	27804422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagtccctcagagagaagCcatcgcagttcctctgagag	10	7	11	13	2	2	3	1	1	1	3	5	5	4	3	3	0	1	3	3	0	1	1			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:27804422C>A	ENST00000408964.2	+	1	5034	c.4983C>A	c.(4981-4983)agC>agA	p.S1661R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1661	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGAGAGAAGCCATCGCAGTT	0.582													15	111					4.14922e-12	4.40068e-12	1	1	0	A	27804422	C	A	27804422	3	1	41	1	0	0	0	0	1	0	0	0	2171	738	26	5	4985	5	C2orf16	2	27804422	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		27804422	215394951	3	695			1	5		2	2	16	N	T_C	1.21136e-05
C2orf16	84226	broad.mit.edu	37	chr2	27804437	27804437	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccatcgcagttcctcTgagagaagacatcgcagtcc	12	7	10	12	2	1	4	0	1	1	3	5	5	3	4	3	0	1	3	3	0	2	1			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:27804437T>A	ENST00000408964.2	+	1	5049	c.4998T>A	c.(4996-4998)tcT>tcA	p.S1666S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1666	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTTCCTCTGAGAGAAGAC	0.577													19	103					0	0	1	0	0	A	27804437	T	A	27804437	2	1	41	1	0	0	0	0	0	0	0	1	2171	1567	55	5		5	C2orf16	2	27804437	Silent	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	15	27804437	215394936	4	696			1	5		2	2	16	N	T_C	1.21136e-05
SAP130	79595	broad.mit.edu	37	chr2	128775359	128775359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagcatggtgtgtcgaCaacatctgcacctgtggata	10	9	12	10	2	1	0	0	0	1	0	2	3	1	1	1	2	3	2	1	2	2	1			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:128775359C>A	ENST00000357702.5	-	3	452	c.321G>T	c.(319-321)ttG>ttT	p.L107F	SAP130_ENST00000259234.6_Missense_Mutation_p.L81F|SAP130_ENST00000259235.3_Missense_Mutation_p.L107F	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	107					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGTGTGTCGACAACATCTGCA	0.582													36	64					3.93418e-24	4.44182e-24	1	1	0	A	128775359	C	A	128775359	3	1	41	1	0	0	0	0	1	0	0	0	13883	477	17	5	3006	5	SAP130	2	128775359	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	100970922	128775359	114424014	5	697											
GTDC1	79712	broad.mit.edu	37	chr2	144966218	144966218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaatataaagcagatGtccgggctctccaatgccat	14	8	10	9	1	1	2	0	0	1	2	3	4	2	2	3	1	2	2	3	1	5	2	rs115723847	by1000genomes	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:144966218G>A	ENST00000392869.2	-	3	283	c.131C>T	c.(130-132)aCa>aTa	p.T44I	GTDC1_ENST00000409214.1_Missense_Mutation_p.T44I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T44I|GTDC1_ENST00000542155.1_Missense_Mutation_p.T44I|GTDC1_ENST00000241391.5_Missense_Mutation_p.T44I|GTDC1_ENST00000409298.1_Missense_Mutation_p.T44I|GTDC1_ENST00000344850.4_Missense_Mutation_p.T44I|GTDC1_ENST00000463875.2_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						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)		TAAAGCAGATGTCCGGGCTCT	0.428													8	38					0	0	1	0	0	A	144966218	G	A	144966218	3	1	41	1	0	0	0	0	1	0	0	0	6892	1377	48	3	1281	3	GTDC1	2	144966218	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	16190859	144966218	98233155	6	698											
SF3B1	23451	broad.mit.edu	37	chr2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	9	15	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	4	5			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		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)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome								21	32					0	0	1	0	0	A	198267484	G	A	198267484	3	1	41	1	0	0	0	0	1	0	0	0	14203	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	53301266	198267484	44931889	7	699											
SCN11A	11280	broad.mit.edu	37	chr3	38913708	38913708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccttcaaactgggacagCgcacgaagaggcctcagtgc	11	7	11	12	2	2	1	2	0	0	1	3	3	3	2	2	2	3	1	2	2	2	2			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr3:38913708C>T	ENST00000450244.1	-	20	3669	c.3471G>A	c.(3469-3471)gcG>gcA	p.A1157A	SCN11A_ENST00000444237.2_Silent_p.A1157A|SCN11A_ENST00000456224.3_Silent_p.A1119A|SCN11A_ENST00000302328.3_Silent_p.A1157A			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1157					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)	ACTGGGACAGCGCACGAAGAG	0.478													60	60					0	0	1	0	0	T	38913708	C	T	38913708	2	4	41	1	0	0	0	0	0	0	0	1	13967	755	27	1		1	SCN11A	3	38913708	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		38913708	159108722	8	700											
PRSS50	29122	broad.mit.edu	37	chr3	46755884	46755901	+	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	CGGTACCTGCTATGCATG	-																															aggaccagaaccgctgggccCggtacctgctatgcatgatg																								rs142097717	byFrequency	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr3:46755884_46755901delCGGTACCTGCTATGCATG	ENST00000460241.1	-	9	2231_2248	c.561_578delCATGCATAGCAGGTACCG	c.(559-579)atcatgcatagcaggtaccgg>atg	p.187_193IMHSRYR>M	PRSS50_ENST00000315170.7_In_Frame_Del_p.187_193IMHSRYR>M			Q9UI38	TSP50_HUMAN	protease, serine, 50	187	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCGCTGGGCCCGGTACCTGCTATGCATGATGACCTGGA	0.61													2	4	---	---	---	---						-	46755901	CGGTACCTGCTATGCATG	-	46755884	7	5	41	1	0	1	0	1	0	0	0	0	12680	652	23	0	591	0	PRSS50	3	46755884	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	TCGA-VD-A8KB-01A-11D-A39W-08	7842176	46755884	151266546	9	701											
ROS1	6098	broad.mit.edu	37	chr6	117710788	117710788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacttttcacatcagcaaagGggatgcgaggtaggatgaga	14	8	13	6	1	2	1	2	1	0	1	2	5	2	3	0	4	3	2	0	4	3	3			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr6:117710788G>A	ENST00000368508.3	-	12	1682	c.1484C>T	c.(1483-1485)cCc>cTc	p.P495L	ROS1_ENST00000368507.3_Missense_Mutation_p.P504L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	495					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)		ATCAGCAAAGGGGATGCGAGG	0.423			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								19	1					0	0	1	0	0	A	117710788	G	A	117710788	3	1	41	1	0	0	0	0	1	0	0	0	13583	1232	43	3	5687	3	ROS1	6	117710788	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		117710788	53404279	10	702											
LUC7L2	51631	broad.mit.edu	37	chr7	139026134	139026134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagaaggacaggacaatgGcggccttagggtccccgtcg	9	5	16	11	4	0	1	0	0	0	1	2	4	1	3	3	6	0	0	3	6	3	1	rs75669887		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr7:139026134G>A	ENST00000541515.3	+	1	29	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55_ENST00000297534.6_Missense_Mutation_p.A2T|C7orf55_ENST00000481123.1_Intron	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN	LUC7-like 2 (S. cerevisiae)	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CAGGACAATGGCGGCCTTAGG	0.657											OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	28					0	0	1	0	0	A	139026134	G	A	139026134	3	1	41	1	0	0	0	0	1	0	0	0	9128	1203	42	2		2	LUC7L2	7	139026134	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		139026134	20112529	11	703											
DENND3	22898	broad.mit.edu	37	chr8	142161751	142161751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacggaacagcggatcGtcttcttctcctcggactgg	6	11	11	13	4	3	1	0	1	3	0	7	4	4	4	2	4	2	0	2	4	1	2			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr8:142161751G>A	ENST00000519811.1	+	7	959	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	DENND3_ENST00000262585.2_Missense_Mutation_p.V217I|DENND3_ENST00000424248.1_Missense_Mutation_p.V217I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	217										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|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;0.105)			ACAGCGGATCGTCTTCTTCTC	0.542													20	118					0	0	1	0	0	A	142161751	G	A	142161751	3	1	41	1	0	0	0	0	1	0	0	0	4460	1145	40	1	671	1	DENND3	8	142161751	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		142161751	4202271	12	704											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								41	35					0	0	1	0	0	G	80409488	T	G	80409488	3	3	41	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08		80409488	60803943	13	705											
TRAF2	7186	broad.mit.edu	37	chr9	139820173	139820173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagaataaccgggagcaCgtgattgacgccttcaggcc	11	6	12	12	3	1	3	1	2	0	1	1	5	1	4	4	2	2	1	4	2	2	3			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr9:139820173C>T	ENST00000359662.3	+	11	1527	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	TRAF2_ENST00000247668.2_Silent_p.H442H|TRAF2_ENST00000536468.1_Silent_p.H442H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	442	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACCGGGAGCACGTGATTGACG	0.602													18	33					0	0	1	0	0	T	139820173	C	T	139820173	2	4	41	1	0	0	0	0	0	0	0	1	16499	535	19	1		1	TRAF2	9	139820173	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	59410685	139820173	1393258	14	706											
ADRBK1	156	broad.mit.edu	37	chr11	67051341	67051342	+	Frame_Shift_Ins	INS	-	-	C																															cagtaccctcccccgctgatINSccccccacgaggggaggtga																										TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr11:67051341_67051342insC	ENST00000308595.5	+	17	1702_1703	c.1412_1413insC	c.(1411-1416)atccccfs	p.IP471fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	471	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCCCCGCTGATCCCCCCACGAG	0.634													2	4	---	---	---	---						C	67051342	-	C	67051341	7	5	41	1	0	1	1	0	0	0	0	0	342	1435	50	0	1478	0	ADRBK1	11	67051341	Frame_Shift_Ins	INS	-	TCGA-VD-A8KB-01A-11D-A39W-08		67051341	67955175	15	707											
LMO3	55885	broad.mit.edu	37	chr12	16753678	16753678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacagtcacagcaggcacaCttcaggcagtcttcatgcca	11	7	9	14	1	4	0	3	0	1	0	4	1	4	0	1	2	2	3	1	2	0	2			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr12:16753678C>T	ENST00000320122.6	-	2	639	c.117G>A	c.(115-117)aaG>aaA	p.K39K	LMO3_ENST00000534946.1_Silent_p.K39K|LMO3_ENST00000354662.1_Silent_p.K39K|LMO3_ENST00000540445.1_Silent_p.K39K|LMO3_ENST00000261169.6_Silent_p.K50K|LMO3_ENST00000541295.1_Silent_p.K57K|LMO3_ENST00000441439.2_Silent_p.K39K|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540848.1_Silent_p.K39K|LMO3_ENST00000535535.1_Silent_p.K39K|LMO3_ENST00000537304.1_Silent_p.K39K|LMO3_ENST00000447609.1_Silent_p.K39K|LMO3_ENST00000541846.1_Silent_p.K39K	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	39	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				AGCAGGCACACTTCAGGCAGT	0.498													31	35					0	0	1	0	0	T	16753678	C	T	16753678	2	4	41	1	0	0	0	0	0	0	0	1	8894	564	20	3		3	LMO3	12	16753678	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		16753678	117098217	16	708											
PITPNM2	57605	broad.mit.edu	37	chr12	123481386	123481386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggaggtggccagcaggGggagggcagccaggggaatg	9	2	24	6	0	0	0	0	0	0	0	0	4	0	4	2	9	2	2	2	9	1	0			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr12:123481386G>T	ENST00000280562.5	-	11	1749	c.1544C>A	c.(1543-1545)cCc>cAc	p.P515H	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P515H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P236H|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P515H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	515					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)		GGCCAGCAGGGGGAGGGCAGC	0.637													18	19					8.34094e-07	8.58626e-07	1	1	0	T	123481386	G	T	123481386	3	4	41	1	0	0	0	0	1	0	0	0	11999	1232	43	5	2565	5	PITPNM2	12	123481386	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	106727708	123481386	10370509	17	709											
RYR3	6263	broad.mit.edu	37	chr15	34103222	34103222	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatctgcggaacaactTgcacttgcaggaaaaggtga	15	7	11	8	1	1	2	0	1	1	1	1	4	1	4	0	3	6	2	0	3	5	2			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr15:34103222T>A	ENST00000389232.4	+	72	10311	c.10241T>A	c.(10240-10242)tTg>tAg	p.L3414*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.L3409*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3414					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)		CGGAACAACTTGCACTTGCAG	0.478													3	5					0	0	1	0	0	A	34103222	T	A	34103222	4	1	41	1	0	0	0	0	0	1	0	0	13822	1821	63	5	10527	5	RYR3	15	34103222	Nonsense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08		34103222	68428170	18	710											
KIAA1024	23251	broad.mit.edu	37	chr15	79760547	79760547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgcaagaatctttaaacCcaaataatttagagtactgg	17	10	7	7	1	1	3	0	0	1	3	1	3	1	3	1	1	2	2	1	1	8	6			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr15:79760547C>T	ENST00000305428.3	+	4	2647	c.2572C>T	c.(2572-2574)Cca>Tca	p.P858S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	858						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATCTTTAAACCCAAATAATTT	0.388													13	18					0	0	1	0	0	T	79760547	C	T	79760547	3	4	41	1	0	0	0	0	1	0	0	0	8247	623	22	3	2582	3	KIAA1024	15	79760547	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	45657325	79760547	22770845	19	711											
TAF15	8148	broad.mit.edu	37	chr17	34173974	34173974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttttgaatgttcctttgtCtctgacatgatccatagtga	8	18	8	7	0	1	4	0	4	1	0	4	4	3	4	2	0	0	2	2	0	2	5			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:34173974C>T	ENST00000592237.1	+	19	1747	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTTCCTTTGTCTCTGACATGA	0.393			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								28	27					0	0	1	0	0	T	34173974	C	T	34173974	2	4	41	1	0	0	0	0	0	0	0	1	15575	928	32	3		3	TAF15	17	34173974	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		34173974	47021236	20	712											
KRT32	3882	broad.mit.edu	37	chr17	39620401	39620401	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtcaatgatgtctgactGgtagttctgaagctgctcag	9	12	12	8	0	4	3	2	3	2	0	4	3	4	3	0	2	2	4	0	2	3	2			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:39620401G>A	ENST00000225899.3	-	5	1028	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	309	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ATGTCTGACTGGTAGTTCTGA	0.577													19	24					0	0	1	0	0	A	39620401	G	A	39620401	4	1	41	1	0	0	0	0	0	1	0	0	8511	1357	47	3	433	3	KRT32	17	39620401	Nonsense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	5446427	39620401	41574809	21	713											
RNF43	54894	broad.mit.edu	37	chr17	56435332	56435332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccgaaggggctgctgagTtggatctggtgacttgctga	6	10	16	9	1	1	3	0	3	1	0	1	5	1	4	2	4	2	4	2	4	1	2			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:56435332T>C	ENST00000584437.1	-	8	3760	c.1805A>G	c.(1804-1806)aAc>aGc	p.N602S	RNF43_ENST00000577716.1_Missense_Mutation_p.N602S|RNF43_ENST00000500597.2_Missense_Mutation_p.N561S|RNF43_ENST00000577625.1_Missense_Mutation_p.N475S|RNF43_ENST00000583753.1_Missense_Mutation_p.N561S|RNF43_ENST00000581868.1_Missense_Mutation_p.N475S|RNF43_ENST00000407977.2_Missense_Mutation_p.N602S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	602	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTGCTGAGTTGGATCTGGT	0.657													43	72					0	0	1	0	0	C	56435332	T	C	56435332	3	2	41	1	0	0	0	0	1	0	0	0	13547	1725	60	4	554	4	RNF43	17	56435332	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	16814931	56435332	24759878	22	714											
NPEPL1	79716	broad.mit.edu	37	chr20	57276201	57276201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgacactggaggcctcaGcatcaaagggaaggtgaggt	12	7	14	8	0	2	2	2	2	0	0	2	4	2	4	1	5	1	1	1	5	3	1			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr20:57276201G>A	ENST00000356091.6	+	6	1097	c.809G>A	c.(808-810)aGc>aAc	p.S270N	NPEPL1_ENST00000525967.1_Missense_Mutation_p.S242N|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S222N	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	270					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGAGGCCTCAGCATCAAAGGG	0.687													5	3					0	0	1	0	0	A	57276201	G	A	57276201	3	1	41	1	0	0	0	0	1	0	0	0	10621	971	34	2	677	2	NPEPL1	20	57276201	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		57276201	5749319	23	715											
KLHL15	80311	broad.mit.edu	37	chrX	24007013	24007013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaaatactgtagtttgCggttttgcagaacggatgcg	9	12	12	8	4	0	1	0	0	0	1	1	3	0	2	1	2	5	4	1	2	4	5			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chrX:24007013C>T	ENST00000328046.8	-	4	1095	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	280										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTGTAGTTTGCGGTTTTGCAG	0.433													4	141					0	0	1	0	0	T	24007013	C	T	24007013	2	4	41	1	0	0	0	0	0	0	0	1	8414	755	27	1		1	KLHL15	23	24007013	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		24007013	131263547	24	716											
THOC2	57187	broad.mit.edu	37	chrX	122769935	122769935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgctatgaataccttttGcccgcctttagctgattggc	7	16	8	10	1	0	2	0	2	0	0	0	2	0	2	3	1	4	2	3	1	4	8			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chrX:122769935G>T	ENST00000245838.8	-	19	2044	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	THOC2_ENST00000355725.4_Silent_p.G671G|THOC2_ENST00000491737.1_Silent_p.G556G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	671					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AATACCTTTTGCCCGCCTTTA	0.363													36	38					5.43694e-19	5.94665e-19	1	1	0	T	122769935	G	T	122769935	2	4	41	1	0	0	0	0	0	0	0	1	15925	1306	46	5		5	THOC2	23	122769935	Silent	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	98762922	122769935	32500625	25	717											
IL12RB2	3595	broad.mit.edu	37	chr1	67845674	67845674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcttcctttcagaaattCcctacagagtctcccaaaat	12	14	3	12	0	3	2	1	0	2	2	6	2	5	2	3	0	1	0	3	0	5	5			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:67845674C>A	ENST00000262345.1	+	13	2363	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	575	Fibronectin type-III 5.				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						TTCAGAAATTCCCTACAGAGT	0.403													16	37					6.49762e-13	7.6179e-13	1	1	0	A	67845674	C	A	67845674	3	1	42	1	0	0	0	0	1	0	0	0	7671	855	30	5	1769	5	IL12RB2	1	67845674	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		67845674	181404947	1	718											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999731	112999731	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgaaatctagccaacacTgccaatccaagaggtgacac	15	7	7	12	1	1	2	0	1	1	1	3	3	2	2	3	1	3	0	3	1	6	2			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:112999731T>C	ENST00000271277.6	+	6	1842	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	539						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		TAGCCAACACTGCCAATCCAA	0.542													37	47					0	0	1	0	0	C	112999731	T	C	112999731	2	2	42	1	0	0	0	0	0	0	0	1	4070	1567	55	4		4	CTTNBP2NL	1	112999731	Silent	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08	45154057	112999731	136250890	2	719											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													3	41					0	0	1	0	0	T	153907309	C	T	153907309	2	4	42	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	40907578	153907309	95343312	3	720											
ADAMTS4	9507	broad.mit.edu	37	chr1	161164004	161164004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctggtttgtctaagagAcagtgccctgggaagggggt	7	10	16	8	0	2	1	0	0	2	1	2	3	2	2	2	4	1	1	2	4	2	2			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:161164004A>C	ENST00000367996.5	-	5	1697	c.1269T>G	c.(1267-1269)tgT>tgG	p.C423W	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGTCTAAGAGACAGTGCCCTG	0.592													12	30					0	0	1	0	0	C	161164004	A	C	161164004	3	2	42	1	0	0	0	0	1	0	0	0	267	273	10	5	1264	5	ADAMTS4	1	161164004	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	7256695	161164004	88086617	4	721											
NTSR2	23620	broad.mit.edu	37	chr2	11810004	11810006	+	In_Frame_Del	DEL	CAG	CAG	-																															agctccaccggcacgccgacCagcagcagcagcaggcccgc																										TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:11810004_11810006delCAG	ENST00000306928.5	-	1	284_286	c.250_252delCTG	c.(250-252)ctgdel	p.L84del		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	84					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)	GCACGCCGACCAGCAGCAGCAGC	0.719													2	4	---	---	---	---						-	11810006	CAG	-	11810004	7	5	42	1	0	1	0	1	0	0	0	0	10759	581	21	0	996	0	NTSR2	2	11810004	In_Frame_Del	DEL	CAG	TCGA-VD-A8KD-01A-11D-A39W-08		11810004	231389369	5	722											
FBLN7	129804	broad.mit.edu	37	chr2	112942885	112942885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgccccgagggcagcGgcaatgtgagctacgtgaag	9	6	16	10	3	0	3	0	3	0	0	0	4	0	3	2	2	4	3	2	2	3	1			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:112942885G>A	ENST00000331203.2	+	7	1187	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	306	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGAGGGCAGCGGCAATGTGAG	0.617													3	37					0	0	1	0	0	A	112942885	G	A	112942885	3	1	42	1	0	0	0	0	1	0	0	0	5734	1116	39	1	942	1	FBLN7	2	112942885	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08	101132881	112942885	130256488	6	723											
DNER	92737	broad.mit.edu	37	chr2	230231716	230231716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgcggcaaatccccaCgatcaggatgatcagcataa	13	7	10	11	2	2	2	2	2	0	0	3	4	3	3	2	2	2	3	2	2	2	1			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:230231716C>T	ENST00000341772.4	-	12	2109	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	659					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAAATCCCCACGATCAGGATG	0.557													6	11					0	0	1	0	0	T	230231716	C	T	230231716	3	4	42	1	0	0	0	0	1	0	0	0	4694	536	19	1	246	1	DNER	2	230231716	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	117288831	230231716	12967657	7	724											
LHFPL4	375323	broad.mit.edu	37	chr3	9547848	9547848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatggtctcggcatcccagCcatcaggaaagatcatgcag	11	7	12	11	1	3	1	2	0	1	1	5	3	4	3	2	4	2	2	2	4	1	0			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr3:9547848C>A	ENST00000287585.6	-	3	731	c.446G>T	c.(445-447)gGc>gTc	p.G149V		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	149						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCATCCCAGCCATCAGGAAA	0.602													3	34					1	1	1	1	0	A	9547848	C	A	9547848	3	1	42	1	0	0	0	0	1	0	0	0	8807	739	26	5	305	5	LHFPL4	3	9547848	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		9547848	188474582	8	725											
PRDM8	56978	broad.mit.edu	37	chr4	81123464	81123464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccccagcccagagccTcagcagcggtagcggcagcg	7	4	13	17	3	1	1	1	0	0	1	2	1	2	1	4	2	7	4	4	2	1	1			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:81123464T>A	ENST00000339711.4	+	10	2079	c.848T>A	c.(847-849)cTc>cAc	p.L283H	PRDM8_ENST00000504452.1_Missense_Mutation_p.L283H|PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				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						GCCCAGAGCCTCAgcagcggt	0.701											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	1	0	0	A	81123464	T	A	81123464	3	1	42	1	0	0	0	0	1	0	0	0	12514	1551	54	5	858	5	PRDM8	4	81123464	Missense_Mutation	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08		81123464	110030812	9	726											
GRID2	2895	broad.mit.edu	37	chr4	94693493	94693493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggtttcacttttggcaaCgtgcctgagcaccgaactgg	7	12	11	11	2	2	1	1	1	1	0	2	2	2	1	2	3	4	3	2	3	2	3			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:94693493C>T	ENST00000282020.4	+	16	3126	c.2868C>T	c.(2866-2868)aaC>aaT	p.N956N	GRID2_ENST00000510992.1_Silent_p.N861N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	956	Interaction with AP4M1 (By similarity).				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)	CTTTTGGCAACGTGCCTGAGC	0.468													17	37					0	0	1	0	0	T	94693493	C	T	94693493	2	4	42	1	0	0	0	0	0	0	0	1	6813	535	19	1		1	GRID2	4	94693493	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	13570029	94693493	96460783	10	727											
SLC22A5	6584	broad.mit.edu	37	chr5	131714157	131714157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggctccttcatttcaGggcagctgtcagacaggtaa	8	12	12	9	0	3	1	3	0	0	1	4	1	4	1	1	3	1	5	1	3	1	4			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:131714157G>T	ENST00000245407.3	+	2	702	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	161					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CTTCATTTCAGGGCAGCTGTC	0.552													63	103					3.84483e-29	5.02786e-29	1	1	0	T	131714157	G	T	131714157	3	4	42	1	0	0	0	0	1	0	0	0	14512	1000	35	5	487	5	SLC22A5	5	131714157	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		131714157	49201103	11	728											
KDM3B	51780	broad.mit.edu	37	chr5	137750822	137750822	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatcatttctatttcagaGacagaagagatgggtgatga	15	11	11	4	0	3	5	2	2	1	3	3	8	3	5	0	1	0	0	0	1	3	3			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:137750822G>A	ENST00000314358.5	+	12	3401	c.3201G>A	c.(3199-3201)gaG>gaA	p.E1067E	KDM3B_ENST00000394866.1_Splice_Site_p.E723E|KDM3B_ENST00000542866.1_Splice_Site_p.E99E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1067					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						CTATTTCAGAGACAGAAGAGA	0.413													8	35					0	0	1	0	0	A	137750822	G	A	137750822	5	1	42	1	0	0	0	0	0	0	1	0	8171	956	33	3	3247	3	KDM3B	5	137750822	Splice_Site	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08	6036665	137750822	43164438	12	729											
RPL26L1	51121	broad.mit.edu	37	chr5	172395506	172395506	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcaaattggcaaggtagtCcaggtgtacagaaagaaata	17	7	11	6	0	0	2	0	0	0	2	1	2	1	2	1	3	2	4	1	3	7	4			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:172395506C>G	ENST00000521476.1	+	3	337	c.213C>G	c.(211-213)gtC>gtG	p.V71V	RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V|RPL26L1_ENST00000265100.2_Silent_p.V71V			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGGTAGTCCAGGTGTACA	0.463													4	145					0	0	1	0	0	G	172395506	C	G	172395506	2	3	42	1	0	0	0	0	0	0	0	1	13626	842	30	5		5	RPL26L1	5	172395506	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	34644684	172395506	8519754	13	730											
PTK7	0	broad.mit.edu	37	chr6	43111198	43111198	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggccctggcagccctccCccctacaagatgatccagac	9	5	10	17	0	0	3	0	1	0	2	2	4	2	3	6	2	2	1	6	2	2	1			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr6:43111198C>G	ENST00000230419.4	+	14	2312	c.2091C>G	c.(2089-2091)ccC>ccG	p.P697P	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P|PTK7_ENST00000352931.2_Silent_p.P641P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGCCCTCCCCCCTACAAGA	0.602											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	46					0	0	1	0	0	G	43111198	C	G	43111198	2	3	42	1	0	0	0	0	0	0	0	1	12815	610	22	5		5	PTK7	6	43111198	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		43111198	128003869	14	731											
CPVL	54504	broad.mit.edu	37	chr7	29103844	29103844	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagtaaagctgatcctCaggttcctggcagaaggggc	11	8	12	10	0	1	2	1	1	0	1	3	2	3	2	2	4	1	4	2	4	4	3			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:29103844C>A	ENST00000409850.1	-	15	1616	c.970G>T	c.(970-972)Gag>Tag	p.E324*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	324					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AGCTGATCCTCAGGTTCCTGG	0.423													9	19					6.40141e-05	6.8015e-05	1	1	0	A	29103844	C	A	29103844	4	1	42	1	0	0	0	0	0	1	0	0	3858	835	29	5	472	5	CPVL	7	29103844	Nonsense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		29103844	130034819	15	732											
RPS25	6230	broad.mit.edu	37	chr11	118888181	118888181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttgggaacttccttacaGagtttatcataggtagcttt	10	16	9	6	0	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	6	9			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr11:118888181G>C	ENST00000527673.1	-	3	579	c.174C>G	c.(172-174)ctC>ctG	p.L58L		NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	58					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CTTCCTTACAGAGTTTATCAT	0.463													16	41					0	0	1	0	0	C	118888181	G	C	118888181	2	2	42	1	0	0	0	0	0	0	0	1	13688	929	33	5		5	RPS25	11	118888181	Silent	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		118888181	16118335	16	733											
OLFM4	10562	broad.mit.edu	37	chr13	53624627	53624627	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaccacacttcaggtgctAaacacttggtataccaagca	14	8	7	12	0	1	0	1	0	0	0	1	1	1	0	2	2	4	3	2	2	5	5			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr13:53624627A>G	ENST00000219022.2	+	5	1332	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	418	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCAGGTGCTAAACACTTGGT	0.433													4	101					0	0	1	0	0	G	53624627	A	G	53624627	2	3	42	1	0	0	0	0	0	0	0	1	10903	349	13	4		4	OLFM4	13	53624627	Silent	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08		53624627	61545251	17	734											
CGNL1	84952	broad.mit.edu	37	chr15	57837822	57837822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagctcagcaaccggcGgctggagcggaaagtgaagg	10	6	15	10	3	3	1	2	1	1	0	3	3	3	3	1	5	4	3	1	5	3	1			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:57837822G>A	ENST00000281282.5	+	17	3611	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1178						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)		AGCAACCGGCGGCTGGAGCGG	0.597													6	11					0	0	1	0	0	A	57837822	G	A	57837822	3	1	42	1	0	0	0	0	1	0	0	0	3326	1116	39	1	3595	1	CGNL1	15	57837822	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		57837822	44693570	18	735											
THSD4	79875	broad.mit.edu	37	chr15	72063481	72063481	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgactctaagtaacctcTgtgaccctcagttgaaacca	13	10	6	12	0	3	3	1	3	2	0	3	3	3	3	3	0	2	2	3	0	3	3			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:72063481T>G	ENST00000355327.3	+	17	2982	c.2848T>G	c.(2848-2850)Tgt>Ggt	p.C950G	THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	950	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTAACCTCTGTGACCCTCA	0.488													51	69					0	0	1	0	0	G	72063481	T	G	72063481	3	3	42	1	0	0	0	0	1	0	0	0	15938	1580	55	5	2910	5	THSD4	15	72063481	Missense_Mutation	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08	14225659	72063481	30467911	19	736											
PRKCB	5579	broad.mit.edu	37	chr16	24196869	24196869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtctatgtccaaggaagCtgtggccatctgcaaagggg	11	8	13	9	0	2	0	0	0	2	0	3	1	3	1	2	4	2	2	2	4	5	1			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr16:24196869C>T	ENST00000303531.7	+	15	1855	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V	PRKCB_ENST00000321728.7_Missense_Mutation_p.A568V	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	568	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAAGGAAGCTGTGGCCATC	0.507													26	33					0	0	1	0	0	T	24196869	C	T	24196869	3	4	42	1	0	0	0	0	1	0	0	0	12560	797	28	2	1761	2	PRKCB	16	24196869	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		24196869	66157884	20	737											
VEZF1	7716	broad.mit.edu	37	chr17	56056601	56056601	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacatgttgttgttgttgTtgttgctgctgctgctgctg	2	19	13	7	0	1	0	1	0	0	0	1	0	1	0	0	0	5	11	0	0	0	6			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr17:56056601T>C	ENST00000584396.1	-	5	1111	c.1023A>G	c.(1021-1023)caA>caG	p.Q341Q	VEZF1_ENST00000581208.1_Silent_p.Q350Q			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	350	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgttgctgct	0.473													4	211					0	0	1	0	0	C	56056601	T	C	56056601	2	2	42	1	0	0	0	0	0	0	0	1	17215	1722	60	4		4	VEZF1	17	56056601	Silent	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08		56056601	25138609	21	738											
CEP192	55125	broad.mit.edu	37	chr18	13096255	13096255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgagatttgagctgtgctGgccagcgcattgcctcacag	8	10	12	11	1	1	2	1	2	0	1	1	3	1	2	2	1	4	3	2	1	0	2			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr18:13096255G>T	ENST00000506447.1	+	36	6586	c.6506G>T	c.(6505-6507)tGg>tTg	p.W2169L	CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.W1573L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1764										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						GAGCTGTGCTGGCCAGCGCAT	0.483													23	43					1.64293e-13	2.06888e-13	1	1	0	T	13096255	G	T	13096255	3	4	42	1	0	0	0	0	1	0	0	0	3273	1357	47	5	6644	5	CEP192	18	13096255	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		13096255	64980993	22	739											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													6	108					0	0	1	0	0	A	12575498	G	A	12575498	3	1	42	1	0	0	0	0	1	0	0	0	18169	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		12575498	46553485	23	740											
TIMM50	92609	broad.mit.edu	37	chr19	39971353	39971368	+	Frame_Shift_Del	DEL	TGCGGCAATCCGCCCG	TGCGGCAATCCGCCCG	-																															tagtcagaagcaaacgcgccTgcggcaatccgcccgatgcc																										TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	ENST00000314349.4	+	1	302_317	c.169_184delTGCGGCAATCCGCCCG	c.(169-186)tgcggcaatccgcccgatfs	p.CGNPPD57fs		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	33					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAACGCGCCTGCGGCAATCCGCCCGATGCCTTTGG	0.667													6	13	---	---	---	---						-	39971368	TGCGGCAATCCGCCCG	-	39971353	7	5	42	1	0	1	0	1	0	0	0	0	15973	1580	55	0	171	0	TIMM50	19	39971353	Frame_Shift_Del	DEL	TGCGGCAATCCGCCCG	TCGA-VD-A8KD-01A-11D-A39W-08	27395855	39971353	19157630	24	741											
PLCB4	5332	broad.mit.edu	37	chr20	9389753	9389753	+	Missense_Mutation	SNP	G	G	T																															accccaagggaggccgagtcGattccagtaattacatgcct																										TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389753G>T	ENST00000378501.2	+	20	1903	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box.				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						AGGCCGAGTCGATTCCAGTAA	0.448													28	42					6.38683e-12	7.23841e-12	1	1	0	T	9389753	G	T	9389753	3	4	42	1	0	0	0	0	1	0	0	0	12078	1058	37	5	2006	5	PLCB4	20	9389753	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		9389753	53635767	25	742	8	2									
PLCB4	5332	broad.mit.edu	37	chr20	9389754	9389754	+	Missense_Mutation	SNP	A	A	T																															ccccaagggaggccgagtcgAttccagtaattacatgcctc																										TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389754A>T	ENST00000378501.2	+	20	1904	c.1889A>T	c.(1888-1890)gAt>gTt	p.D630V	PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box.				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						GGCCGAGTCGATTCCAGTAAT	0.448													29	43					0	0	1	0	0	T	9389754	A	T	9389754	3	4	42	1	0	0	0	0	1	0	0	0	12078	333	12	5	2007	5	PLCB4	20	9389754	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	1	9389754	53635766	26	743	8	2									
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GGGGTAAAGGAGAGAAATCTC	0.363													6	155					0	0	1	0	0	C	11058340	A	C	11058340	1	2	42	0	1	0	0	0	0	0	0	0	1290	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08		11058340	37071555	27	744											
VAV3	10451	broad.mit.edu	37	chr1	108116776	108116776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcatatctcttgcacagaAgtcataccgagcgatggcaa	12	10	8	11	2	3	1	2	0	2	1	5	3	3	1	1	1	3	2	1	1	4	3			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr1:108116776A>T	ENST00000370056.4	-	26	2669	c.2395T>A	c.(2395-2397)Ttc>Atc	p.F799I	VAV3_ENST00000415432.2_Missense_Mutation_p.F239I|VAV3_ENST00000527011.1_Missense_Mutation_p.F827I|VAV3_ENST00000544443.1_Missense_Mutation_p.F203I|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|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|metal ion binding|SH3/SH2 adaptor activity			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)		CTTGCACAGAAGTCATACCGA	0.428													24	39					0	0	1	0	0	T	108116776	A	T	108116776	3	4	43	1	0	0	0	0	1	0	0	0	17193	72	3	5	156	5	VAV3	1	108116776	Missense_Mutation	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		108116776	141133845	1	745											
CR1L	1379	broad.mit.edu	37	chr1	207850747	207850747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccccagatcaatgcaatgtCccggaatggcttccatttgc	9	11	8	13	1	1	1	1	0	0	1	4	2	4	2	4	2	2	2	4	2	3	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr1:207850747C>T	ENST00000508064.2	+	2	171	c.111C>T	c.(109-111)gtC>gtT	p.V37V	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	37	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATGCAATGTCCCGGAATGGC	0.398													42	46					0	0	1	0	0	T	207850747	C	T	207850747	2	4	43	1	0	0	0	0	0	0	0	1	3864	842	30	3		3	CR1L	1	207850747	Silent	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	99733971	207850747	41399874	2	746											
TTN	7273	broad.mit.edu	37	chr2	179446651	179446651	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactgagggtcccgagcatAagcggccttggatgcgtcac	9	7	13	12	3	1	1	1	1	0	0	2	3	2	2	2	3	3	1	2	3	1	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr2:179446651A>C	ENST00000589042.1	-	315	66669	c.66445T>G	c.(66445-66447)Tat>Gat	p.Y22149D	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13209D|TTN_ENST00000460472.2_Missense_Mutation_p.Y13084D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y13276D|TTN_ENST00000591111.1_Missense_Mutation_p.Y20508D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19581D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20508	Fibronectin type-III 60.		R -> H.				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)			TCCCGAGCATAAGCGGCCTTG	0.443													17	25					0	0	1	0	0	C	179446651	A	C	179446651	3	2	43	1	0	0	0	0	1	0	0	0	16797	362	13	5	41726	5	TTN	2	179446651	Missense_Mutation	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		179446651	63752722	3	747											
STAB1	23166	broad.mit.edu	37	chr3	52537488	52537488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgtgtctgcccaaggacCcatgcactgacaaccttggt	8	10	11	12	0	1	1	0	1	1	0	1	2	1	2	3	3	3	1	3	3	2	1			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr3:52537488C>T	ENST00000321725.6	+	8	899	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	275					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)		GCCCAAGGACCCATGCACTGA	0.627													3	26					0	0	1	0	0	T	52537488	C	T	52537488	3	4	43	1	0	0	0	0	1	0	0	0	15293	623	22	3	853	3	STAB1	3	52537488	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		52537488	145484942	4	748											
PCDH10	57575	broad.mit.edu	37	chr4	134084205	134084205	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcggtgctggatgccttcTtttgtcccttctgatggacg	4	15	12	10	2	2	1	0	1	2	0	4	4	3	3	2	3	2	1	2	3	0	4			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr4:134084205T>C	ENST00000264360.5	+	4	3697	c.2871T>C	c.(2869-2871)tcT>tcC	p.S957S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S957S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGATGCCTTCTTTTGTCCCTT	0.493													28	44					0	0	1	0	0	C	134084205	T	C	134084205	2	2	43	1	0	0	0	0	0	0	0	1	11554	1596	56	4		4	PCDH10	4	134084205	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		134084205	57070071	5	749											
LIFR	3977	broad.mit.edu	37	chr5	38496650	38496650	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcatctgatgaacacgaTacattgtaggaaagtatttt	13	14	7	7	1	2	2	1	2	1	0	3	4	3	3	1	1	2	2	1	1	5	6			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr5:38496650T>C	ENST00000263409.4	-	13	1881	c.1719A>G	c.(1717-1719)gtA>gtG	p.V573V	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.V573V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	573	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.V573V(2)		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)					ATGAACACGATACATTGTAGG	0.383			T	PLAG1	salivary adenoma								36	41					0	0	1	0	0	C	38496650	T	C	38496650	2	2	43	1	0	0	0	0	0	0	0	1	8820	1393	49	4		4	LIFR	5	38496650	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		38496650	142418610	6	750											
F12	2161	broad.mit.edu	37	chr5	176831398	176831398	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagcaccacgggcggaTgtcgttgtccgggttcctgt	6	9	14	12	5	0	0	0	0	0	0	3	2	2	1	3	3	1	3	3	3	1	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr5:176831398T>A	ENST00000253496.3	-	9	865	c.817A>T	c.(817-819)Atc>Ttc	p.I273F		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	273	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CACGGGCGGATGTCGTTGTCC	0.726									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0	A	176831398	T	A	176831398	3	1	43	1	0	0	0	0	1	0	0	0	5367	1464	51	5	1054	5	F12	5	176831398	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	138334748	176831398	4083862	7	751											
EFHC1	114327	broad.mit.edu	37	chr6	52319006	52319006	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaattcgagaggtccaCgaacggaatgatgggagaga	14	6	16	5	3	0	3	0	1	0	2	2	9	1	6	1	4	1	0	1	4	3	1			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr6:52319006C>T	ENST00000371068.5	+	5	940	c.837C>T	c.(835-837)caC>caT	p.H279H	EFHC1_ENST00000538167.1_Silent_p.H260H|EFHC1_ENST00000433625.2_Silent_p.H188H	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	279	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GAGAGGTCCACGAACGGAATG	0.433													15	104					0	0	1	0	0	T	52319006	C	T	52319006	2	4	43	1	0	0	0	0	0	0	0	1	4972	535	19	1		1	EFHC1	6	52319006	Silent	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		52319006	118796061	8	752											
QKI	9444	broad.mit.edu	37	chr6	163899930	163899930	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgagggataaaaaaaaggTaagtccttgaaaatggacta	20	8	10	3	0	0	2	0	2	0	0	1	4	1	4	1	3	0	1	1	3	9	4			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr6:163899930T>A	ENST00000361752.3	+	3	953		c.e3+2		QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000361195.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAAAAAAAGGTAAGTCCTTGA	0.348													14	99					0	0	1	0	0	A	163899930	T	A	163899930	5	1	43	1	0	0	0	0	0	0	1	0	12925	1652	57	5	414	5	QKI	6	163899930	Splice_Site	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	111580924	163899930	7215137	9	753											
KCNU1	157855	broad.mit.edu	37	chr8	36692332	36692332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagaggcatgcctgattaTagccaatcctttgtgcagtg	9	12	11	9	0	0	2	0	1	0	1	1	2	1	2	3	1	4	3	3	1	3	3			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr8:36692332T>C	ENST00000399881.3	+	12	1278	c.1241T>C	c.(1240-1242)aTa>aCa	p.I414T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	414	RCK N-terminal.					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)		TGCCTGATTATAGCCAATCCT	0.418													5	17					0	0	1	0	0	C	36692332	T	C	36692332	3	2	43	1	0	0	0	0	1	0	0	0	8137	1406	49	4	1287	4	KCNU1	8	36692332	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		36692332	109671690	10	754											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								74	46					0	0	1	0	0	G	80409488	T	G	80409488	3	3	43	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		80409488	60803943	11	755											
CPEB3	22849	broad.mit.edu	37	chr10	93841258	93841258	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgatcattgccagttcaActgcaaaaaaaaaacaaaac	20	7	4	10	0	2	1	2	1	0	0	2	1	2	1	2	0	5	2	2	0	8	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr10:93841258A>G	ENST00000412050.4	-	9	1734	c.1646T>C	c.(1645-1647)gTt>gCt	p.V549A	CPEB3_ENST00000265997.4_Splice_Site_p.V563A	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	563	RRM 2.						nucleotide binding|RNA 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)				TGCCAGTTCAACTGCAAAAAA	0.438													15	19					0	0	1	0	0	G	93841258	A	G	93841258	5	3	43	1	0	0	0	0	0	0	1	0	3825	57	2	4	416	4	CPEB3	10	93841258	Splice_Site	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		93841258	41693489	12	756											
KBTBD4	55709	broad.mit.edu	37	chr11	47594939	47594939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcagcccctgacacaGccacctctagctgagttgtc	9	7	8	17	0	1	2	0	2	1	0	2	2	1	2	5	0	4	3	5	0	1	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr11:47594939G>A	ENST00000533290.1	-	3	1889	c.1175C>T	c.(1174-1176)gCt>gTt	p.A392V	PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A367V|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A367V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A383V			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	367										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCCTGACACAGCCACCTCTAG	0.512													4	74					0	0	1	0	0	A	47594939	G	A	47594939	3	1	43	1	0	0	0	0	1	0	0	0	8039	971	34	2	460	2	KBTBD4	11	47594939	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08		47594939	87411577	13	757											
TECTA	7007	broad.mit.edu	37	chr11	120980087	120980087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggagcctgccatcttGaaaagagccaccaaggacat	14	6	9	12	0	1	2	0	1	1	1	1	4	1	4	5	2	3	0	5	2	3	1			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr11:120980087G>T	ENST00000392793.1	+	4	637	c.366G>T	c.(364-366)ttG>ttT	p.L122F	TECTA_ENST00000264037.2_Missense_Mutation_p.L122F			O75443	TECTA_HUMAN	tectorin alpha	122	NIDO.				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)		CTGCCATCTTGAAAAGAGCCA	0.488													3	37					1	1	1	1	0	T	120980087	G	T	120980087	3	4	43	1	0	0	0	0	1	0	0	0	15806	1281	45	5	376	5	TECTA	11	120980087	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	73385148	120980087	14026429	14	758											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													7	55					0	0	1	0	0	C	3649787	T	C	3649787	3	2	43	1	0	0	0	0	1	0	0	0	12594	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		3649787	130202108	15	759											
MYF6	4618	broad.mit.edu	37	chr12	81101600	81101600	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggctctcctttgtaTccagggagtgatggtacctt	8	12	12	9	0	1	2	0	1	1	1	3	3	2	3	3	3	1	4	3	3	3	4			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr12:81101600T>C	ENST00000228641.3	+	1	324	c.102T>C	c.(100-102)taT>taC	p.Y34Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	34					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTCCTTTGTATCCAGGGAGTG	0.557													4	60					0	0	1	0	0	C	81101600	T	C	81101600	2	2	43	1	0	0	0	0	0	0	0	1	10076	1442	50	4		4	MYF6	12	81101600	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	77451813	81101600	52750295	16	760											
RAB20	55647	broad.mit.edu	37	chr13	111176287	111176287	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcacctgcttaggtgcccTtggggagacacggtccccag	6	8	13	14	1	0	1	0	0	0	1	1	2	1	1	4	4	3	2	4	4	1	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr13:111176287T>G	ENST00000267328.3	-	2	643	c.430A>C	c.(430-432)Agg>Cgg	p.R144R		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	144					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TTAGGTGCCCTTGGGGAGACA	0.592													22	31					0	0	1	0	0	G	111176287	T	G	111176287	2	3	43	1	0	0	0	0	0	0	0	1	12959	1608	56	5		5	RAB20	13	111176287	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		111176287	3993591	17	761											
TPPP2	122664	broad.mit.edu	37	chr14	21498873	21498873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatggatggcaagacaGtcacctccacggacgtggac	11	6	12	12	2	2	1	2	0	0	1	3	4	3	4	2	4	0	2	2	4	1	0			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr14:21498873G>A	ENST00000321760.6	+	2	281	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	TPPP2_ENST00000460647.2_Missense_Mutation_p.V45I|TPPP2_ENST00000530140.2_Missense_Mutation_p.V45I|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	45						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)		TGGCAAGACAGTCACCTCCAC	0.507													10	11					0	0	1	0	0	A	21498873	G	A	21498873	3	1	43	1	0	0	0	0	1	0	0	0	16475	1029	36	3	135	3	TPPP2	14	21498873	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08		21498873	85850667	18	762											
C14orf39	317761	broad.mit.edu	37	chr14	60933673	60933673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaatgcatctttattggtCttactaatttctgagattca	12	17	6	6	0	4	2	1	1	3	2	4	3	4	2	0	1	2	1	0	1	5	7			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr14:60933673C>T	ENST00000321731.3	-	10	1016	c.857G>A	c.(856-858)aGa>aAa	p.R286K		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	286										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CTTTATTGGTCTTACTAATTT	0.289													4	43					0	0	1	0	0	T	60933673	C	T	60933673	3	4	43	1	0	0	0	0	1	0	0	0	1778	913	32	3	942	3	C14orf39	14	60933673	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	39434800	60933673	46415867	19	763											
CWC25	54883	broad.mit.edu	37	chr17	36971161	36971161	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgctggccatgtcaagAagggaattggcacctgatgg	10	10	13	8	0	2	2	1	1	1	1	2	3	2	3	2	4	1	2	2	4	3	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:36971161A>T	ENST00000225428.5	-	3	678	c.381T>A	c.(379-381)ctT>ctA	p.L127L	CWC25_ENST00000536127.1_Silent_p.L64L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCATGTCAAGAAGGGAATTGG	0.512													6	20					0	0	1	0	0	T	36971161	A	T	36971161	2	4	43	1	0	0	0	0	0	0	0	1	4092	233	9	5		5	CWC25	17	36971161	Silent	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		36971161	44224049	20	764											
COG1	9382	broad.mit.edu	37	chr17	71193207	71193207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actattcagaaacttctcaaCcagccacaccatggtgggtg	12	9	8	12	0	2	1	2	0	1	1	3	1	2	1	3	2	3	0	3	2	3	3			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:71193207C>G	ENST00000299886.4	+	3	809	c.729C>G	c.(727-729)aaC>aaG	p.N243K		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	243					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AACTTCTCAACCAGCCACACC	0.532													16	25					0	0	1	0	0	G	71193207	C	G	71193207	3	3	43	1	0	0	0	0	1	0	0	0	3680	506	18	5	739	5	COG1	17	71193207	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	34222046	71193207	10002003	21	765											
ACOX1	51	broad.mit.edu	37	chr17	73942871	73942871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgcttgtaagattcGtggacctgtggggaaaggag	9	11	16	5	1	1	1	1	0	0	1	2	4	1	4	1	5	1	2	1	5	2	4			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:73942871G>A	ENST00000537812.1	-	14	2475	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	ACOX1_ENST00000301608.4_Silent_p.H647H|ACOX1_ENST00000293217.5_Silent_p.H647H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	647					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TGTAAGATTCGTGGACCTGTG	0.378													5	33					0	0	1	0	0	A	73942871	G	A	73942871	2	1	43	1	0	0	0	0	0	0	0	1	158	1136	40	1		1	ACOX1	17	73942871	Silent	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	2749664	73942871	7252339	22	766											
OSBPL1A	114876	broad.mit.edu	37	chr18	21746564	21746564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctctccattttccatggCtctgatgtcaggccgtaacc	7	14	7	13	1	3	1	1	1	2	0	6	1	5	1	4	2	1	2	4	2	2	4			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr18:21746564C>T	ENST00000319481.3	-	26	2844	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A498T|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A367T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	880					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTCCATGGCTCTGATGTCA	0.428													4	89					0	0	1	0	0	T	21746564	C	T	21746564	3	4	43	1	0	0	0	0	1	0	0	0	11324	797	28	2	226	2	OSBPL1A	18	21746564	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		21746564	56330684	23	767											
PVR	5817	broad.mit.edu	37	chr19	45147435	45147435	+	Frame_Shift_Del	DEL	G	G	-																															gccgcgtggccgctgctgctGgtggcgctactggtgctgtc																										TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr19:45147435delG	ENST00000425690.3	+	1	338	c.39delG	c.(37-39)ctgfs	p.L13fs	PVR_ENST00000406449.4_Frame_Shift_Del_p.L13fs|PVR_ENST00000344956.4_Frame_Shift_Del_p.L13fs|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Frame_Shift_Del_p.L13fs	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	13					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CGCTGCTGCTGGTGGCGCTAC	0.751													2	4	---	---	---	---						-	45147435	G	-	45147435	7	5	43	1	0	1	0	1	0	0	0	0	12889	1335	47	0	41	0	PVR	19	45147435	Frame_Shift_Del	DEL	G	TCGA-VD-A8KE-01A-11D-A39W-08		45147435	13981548	24	768											
BMP7	655	broad.mit.edu	37	chr20	55758828	55758828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttgggcgtcttggagCggttctggctgcgctgtttg	1	15	17	8	3	3	0	0	0	3	0	3	1	3	1	0	5	2	5	0	5	0	5			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr20:55758828C>T	ENST00000395863.3	-	4	1413	c.908G>A	c.(907-909)cGc>cAc	p.R303H	BMP7_ENST00000450594.2_Missense_Mutation_p.R303H|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	303					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGTCTTGGAGCGGTTCTGGCT	0.622													5	76					0	0	1	0	0	T	55758828	C	T	55758828	3	4	43	1	0	0	0	0	1	0	0	0	1464	768	27	1	403	1	BMP7	20	55758828	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		55758828	7266692	25	769											
EIF1AX	1964	broad.mit.edu	37	chrX	20156732	20156732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgcgtctgtttttacCtcctttacctgatggtttaa	6	17	6	12	1	1	1	0	1	1	0	2	1	2	1	5	1	3	2	5	1	3	7			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:20156732C>G	ENST00000379607.5	-	2	228	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTGTTTTTACCTCCTTTACCT	0.313													56	9					0	0	1	0	0	G	20156732	C	G	20156732	3	3	43	1	0	0	0	0	1	0	0	0	5018	681	24	5	433	5	EIF1AX	23	20156732	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		20156732	135113828	26	770											
GAGE2A	729447	broad.mit.edu	37	chrX	49355851	49355851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacacctgaagaaggggaaCcagcaactcaacgtcaggat	16	4	10	11	1	2	2	2	1	0	1	2	4	2	4	2	3	5	1	2	3	6	0			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:49355851C>T	ENST00000362097.1	+	3	216	c.133C>T	c.(133-135)Cca>Tca	p.P45S		NM_001127212.1	NP_001120684.1			G antigen 2A											endometrium(4)	4	Ovarian(276;0.236)					AGAAGGGGAACCAGCAACTCA	0.512													20	490					0	0	1	0	0	T	49355851	C	T	49355851	3	4	43	1	0	0	0	0	1	0	0	0	6226	507	18	3	1240	3	GAGE2A	23	49355851	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	29199119	49355851	105914709	27	771											
CLDN2	9075	broad.mit.edu	37	chrX	106171760	106171760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcattatctctgtggtggGcatgagatgcacagtcttct	7	14	11	9	0	3	1	0	1	3	1	4	2	3	1	0	2	2	3	0	2	1	2			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:106171760G>C	ENST00000541806.1	+	2	821	c.302G>C	c.(301-303)gGc>gCc	p.G101A	CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A|CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	101					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGTGGTGGGCATGAGATGC	0.572													3	53					0	0	1	0	0	C	106171760	G	C	106171760	3	2	43	1	0	0	0	0	1	0	0	0	3504	1203	42	5	304	5	CLDN2	23	106171760	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	56815909	106171760	49098800	28	772											
ATAD3A	55210	broad.mit.edu	37	chr1	1463226	1463226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaagtatgttcttaagccgGccacagaaggaaagcagtaa	16	7	10	8	1	1	1	0	0	1	1	1	2	1	2	2	2	2	4	2	2	6	4			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr1:1463226G>A	ENST00000378755.5	+	14	1727	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A418T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A497T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	545							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCTTAAGCCGGCCACAGAAGG	0.582													3	48					0	0	1	0	0	A	1463226	G	A	1463226	3	1	44	1	0	0	0	0	1	0	0	0	1072	1203	42	2	1687	2	ATAD3A	1	1463226	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		1463226	247787395	1	773											
KIAA2013	90231	broad.mit.edu	37	chr1	11983371	11983371	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggcgtgcatggtggcgtgCccgctgaagcagtgatcttc	5	10	15	11	4	1	2	0	2	1	0	3	2	1	2	1	3	3	3	1	3	1	1			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr1:11983371C>A	ENST00000376572.3	-	2	1394	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G	KIAA2013_ENST00000376576.3_Silent_p.G403G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	403						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	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;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGCGTGCCCGCTGAAGC	0.647													3	25					0.115264	0.115264	1	1	0	A	11983371	C	A	11983371	2	1	44	1	0	0	0	0	0	0	0	1	8309	726	26	5		5	KIAA2013	1	11983371	Silent	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08	10520145	11983371	237267250	2	774											
LRRC15	131578	broad.mit.edu	37	chr3	194081424	194081424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctggaagaggccgatggGcagaacctgcagcttgttgt	8	8	15	10	1	0	2	0	0	0	2	0	4	0	3	3	3	3	4	3	3	2	2			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr3:194081424G>T	ENST00000347624.3	-	2	434	c.349C>A	c.(349-351)Ccc>Acc	p.P117T	LRRC15_ENST00000428839.1_Missense_Mutation_p.P123T|LRRC15_ENST00000439944.2_Missense_Mutation_p.P123T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	117						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCGATGGGCAGAACCTGC	0.602													19	1					5.3912e-06	6.16138e-06	1	1	0	T	194081424	G	T	194081424	3	4	44	1	0	0	0	0	1	0	0	0	9015	1203	42	5	1400	5	LRRC15	3	194081424	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		194081424	3941006	3	775											
MRPS18C	51023	broad.mit.edu	37	chr4	84377254	84377254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgtggttgctgtttgCggtggtctagggaggaagaa	6	11	18	6	2	1	1	0	0	1	1	1	3	1	3	1	5	2	4	1	5	3	3	rs141532727	byFrequency	TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr4:84377254C>T	ENST00000295491.4	+	1	137	c.24C>T	c.(22-24)tgC>tgT	p.C8C	MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	8					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTGCTGTTTGCGGTGGTCTAG	0.552													4	164					0	0	1	0	0	T	84377254	C	T	84377254	2	4	44	1	0	0	0	0	0	0	0	1	9879	776	27	1		1	MRPS18C	4	84377254	Silent	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		84377254	106777022	4	776											
CDH6	1004	broad.mit.edu	37	chr5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatagtggacaccaattttCgttttccttggcccctgaag	8	15	8	10	1	0	1	0	1	0	0	2	2	1	2	4	2	0	1	4	2	4	7			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5.				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						CACCAATTTTCGTTTTCCTTG	0.403													4	152					0	0	1	0	0	T	31317540	C	T	31317540	3	4	44	1	0	0	0	0	1	0	0	0	3136	893	31	1	1605	1	CDH6	5	31317540	Missense_Mutation	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		31317540	149597720	5	777											
ZAN	7455	broad.mit.edu	37	chr7	100369720	100369721	+	RNA	INS	-	-	T																															ccctttcttcctctaaattcINSttttttttttttttgagacg																										TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			cctctaaattcttttttttttt	0.535													2	4	---	---	---	---						T	100369721	-	T	100369720	6	5	44	0	1	1	1	0	0	0	0	0	17573	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-VD-A8KF-01A-11D-A39W-08		100369720	58768943	6	778											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057131	72057131	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgcgtgccgcgagcgtGagaaattcctcagctgctgc	8	7	13	13	5	1	2	1	1	0	2	2	4	2	2	2	0	5	2	2	0	1	1			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr12:72057131G>T	ENST00000378743.3	-	1	618	c.260C>A	c.(259-261)tCa>tAa	p.S87*	ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	87	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						CCGCGAGCGTGAGAAATTCCT	0.657											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	50					3.4345e-17	4.57933e-17	1	1	0	T	72057131	G	T	72057131	4	4	44	1	0	0	0	0	0	1	0	0	17691	1294	45	5	5849	5	ZFC3H1	12	72057131	Nonsense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		72057131	61794764	7	779											
PCDH9	5101	broad.mit.edu	37	chr13	67800083	67800083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaccagaacggtgacgaaGatcacaacaatgaccaccat	16	4	8	13	3	1	4	1	2	0	2	1	5	1	4	3	1	2	1	3	1	4	0			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr13:67800083G>A	ENST00000544246.1	-	2	3181	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	PCDH9_ENST00000456367.1_Silent_p.I830I|PCDH9_ENST00000377865.2_Silent_p.I830I|PCDH9_ENST00000377861.3_Silent_p.I830I|PCDH9_ENST00000328454.5_Silent_p.I830I	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	830					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)		CGGTGACGAAGATCACAACAA	0.507													52	49					0	0	1	0	0	A	67800083	G	A	67800083	2	1	44	1	0	0	0	0	0	0	0	1	11565	932	33	3		3	PCDH9	13	67800083	Silent	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		67800083	47369795	8	780											
LGALS9	3965	broad.mit.edu	37	chr17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaatgctgtggtccGcaacacccagatcgacaact	12	8	10	11	2	0	3	0	2	0	2	2	5	1	3	2	1	3	2	2	1	3	0	rs149003631		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr17:25974373G>A	ENST00000395473.2	+	10	2304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H|LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	279	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587													3	50					0	0	1	0	0	A	25974373	G	A	25974373	3	1	44	1	0	0	0	0	1	0	0	0	8788	1087	38	1	874	1	LGALS9	17	25974373	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		25974373	55220837	9	781											
ITGB4	3691	broad.mit.edu	37	chr17	73749891	73749891	+	Frame_Shift_Del	DEL	T	T	-																															gctgggggaggagctggaccTgcggcgcgtcacgtggcggc																										TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr17:73749891delT	ENST00000200181.3	+	33	4341	c.4154delT	c.(4153-4155)ctgfs	p.L1385fs	ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000339591.3_Intron|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1385					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTGGACCTGCGGCGCGTC	0.776													2	4	---	---	---	---						-	73749891	T	-	73749891	7	5	44	1	0	1	0	1	0	0	0	0	7941	1580	55	0	4280	0	ITGB4	17	73749891	Frame_Shift_Del	DEL	T	TCGA-VD-A8KF-01A-11D-A39W-08	47775518	73749891	7445319	10	782											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								17	16					0	0	1	0	0	T	3118942	A	T	3118942	3	4	44	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KF-01A-11D-A39W-08		3118942	56010041	11	783											
PADI2	11240	broad.mit.edu	37	chr1	17395607	17395607	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggtgccacagtggacttCccccagaaatttgtggtagg	8	11	13	9	0	0	1	0	0	0	1	1	2	1	2	3	4	1	2	3	4	2	4			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:17395607C>A	ENST00000375486.4	-	16	1993	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E528*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	644					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)	CAGTGGACTTCCCCCAGAAAT	0.612													23	36					7.88262e-20	8.82854e-20	1	1	0	A	17395607	C	A	17395607	4	1	45	1	0	0	0	0	0	1	0	0	11425	864	30	5	71	5	PADI2	1	17395607	Nonsense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		17395607	231855014	1	784											
DCDC2B	149069	broad.mit.edu	37	chr1	32677692	32677692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaggaatggggacctGgtaagtcccccatttagtct	8	12	12	9	0	2	0	1	0	1	0	3	2	3	2	3	4	0	2	3	4	3	4			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:32677692G>A	ENST00000409358.1	+	4	417	c.417G>A	c.(415-417)ctG>ctA	p.L139L		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	139	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGGGGACCTGGTAAGTCCCC	0.567													4	22					0	0	1	0	0	A	32677692	G	A	32677692	2	1	45	1	0	0	0	0	0	0	0	1	4309	1335	47	3		3	DCDC2B	1	32677692	Silent	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	15282085	32677692	216572929	2	785											
BEST4	266675	broad.mit.edu	37	chr1	45250382	45250382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtggctgcggctggTcctcatcccagtactggtcc	4	11	14	12	1	1	0	1	0	0	0	4	0	4	0	3	5	2	4	3	5	2	2			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:45250382T>G	ENST00000372207.3	-	8	1066	c.1067A>C	c.(1066-1068)gAc>gCc	p.D356A		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	356						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTGCGGCTGGTCCTCATCCCA	0.622													6	28					0	0	1	0	0	G	45250382	T	G	45250382	3	3	45	1	0	0	0	0	1	0	0	0	1405	1667	58	5	362	5	BEST4	1	45250382	Missense_Mutation	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08	12572690	45250382	204000239	3	786											
ELTD1	64123	broad.mit.edu	37	chr1	79383680	79383680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttcaatgcacatccatGcaaaagcagctaaaaagaag	17	7	7	10	0	1	1	1	0	0	1	2	1	2	1	2	0	5	4	2	0	7	2			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:79383680G>A	ENST00000370742.3	-	11	1580	c.1517C>T	c.(1516-1518)gCa>gTa	p.A506V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	506					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		GCACATCCATGCAAAAGCAGC	0.348													33	54					0	0	1	0	0	A	79383680	G	A	79383680	3	1	45	1	0	0	0	0	1	0	0	0	5112	1319	46	2	575	2	ELTD1	1	79383680	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	34133298	79383680	169866941	4	787											
HSPA6	3310	broad.mit.edu	37	chr1	161495028	161495028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaccggcggggcgcgggaGagcgcaacgtgctcattttt	6	8	17	10	6	1	1	1	0	0	1	1	3	1	2	1	5	3	2	1	5	1	2	rs41297714		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:161495028G>A	ENST00000309758.4	+	1	993	c.580G>A	c.(580-582)Gag>Aag	p.E194K	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	194			E -> K (in dbSNP:rs41297714).		response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGGCGCGGGAGAGCGCAACGT	0.627													4	38					0	0	1	0	0	A	161495028	G	A	161495028	3	1	45	1	0	0	0	0	1	0	0	0	7458	943	33	3	582	3	HSPA6	1	161495028	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	82111348	161495028	87755593	5	788			1	6		2	2	69	N	T_G	5.27173e-05
HSPA6	3310	broad.mit.edu	37	chr1	161495096	161495096	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttctctccattgacgcTggtgtctttgaggtgaaagc	6	14	12	9	2	2	3	0	3	2	0	5	3	3	3	1	3	1	2	1	3	1	3			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:161495096T>C	ENST00000309758.4	+	1	1061	c.648T>C	c.(646-648)gcT>gcC	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					response to unfolded protein		ATP binding	p.A216A(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCATTGACGCTGGTGTCTTTG	0.597													4	33					0	0	1	0	0	C	161495096	T	C	161495096	2	2	45	1	0	0	0	0	0	0	0	1	7458	1567	55	4		4	HSPA6	1	161495096	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08	68	161495096	87755525	6	789			1	6		2	2	69	N	T_G	5.27173e-05
MCEE	84693	broad.mit.edu	37	chr2	71351503	71351503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccgcttcacttacctgggCccccagaatattcttataaa	11	11	6	13	1	2	1	1	0	1	1	2	2	2	1	4	1	1	1	4	1	6	6			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr2:71351503C>T	ENST00000244217.5	-	2	228	c.211G>A	c.(211-213)Gcc>Acc	p.A71T		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	71					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTACCTGGGCCCCCAGAATA	0.478													29	44					0	0	1	0	0	T	71351503	C	T	71351503	3	4	45	1	0	0	0	0	1	0	0	0	9427	739	26	2	327	2	MCEE	2	71351503	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		71351503	171847870	7	790											
RHO	6010	broad.mit.edu	37	chr3	129249761	129249761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcctggccatcgagcGgtacgtggtggtgtgtaagc	5	10	18	8	3	0	0	0	0	0	0	2	1	1	0	2	6	3	2	2	6	2	2	rs104893774		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr3:129249761G>A	ENST00000296271.3	+	2	498	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	135			R -> G (in RP4).|R -> L (in RP4).|R -> W (in RP4).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GCCATCGAGCGGTACGTGGTG	0.622													4	121					0	0	1	0	0	A	129249761	G	A	129249761	3	1	45	1	0	0	0	0	1	0	0	0	13380	1116	39	1	410	1	RHO	3	129249761	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		129249761	68772669	8	791											
STAG1	10274	broad.mit.edu	37	chr3	136141361	136141361	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtatattcttcactgcatAagatactataggttttactg	11	17	7	6	0	2	1	1	0	1	1	2	1	2	1	0	2	3	3	0	2	7	10			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr3:136141361A>C	ENST00000383202.2	-	19	2184	c.1928T>G	c.(1927-1929)tTa>tGa	p.L643*	STAG1_ENST00000536929.1_Nonsense_Mutation_p.L227*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.L417*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.L643*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	643					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						TTCACTGCATAAGATACTATA	0.388													16	136					0	0	1	0	0	C	136141361	A	C	136141361	4	2	45	1	0	0	0	0	0	1	0	0	15298	372	13	5	1912	5	STAG1	3	136141361	Nonsense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08	6891600	136141361	61881069	9	792											
PCDHA2	0	broad.mit.edu	37	chr5	140174912	140174912	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttttccatgtggaagtGgaggtgaaggacattaacga	12	10	14	5	1	0	1	0	1	0	0	1	5	1	4	1	5	1	1	1	5	3	3			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr5:140174912G>T	ENST00000526136.1	+	1	363	c.363G>T	c.(361-363)gtG>gtT	p.V121V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.V121V|PCDHA2_ENST00000520672.2_Silent_p.V121V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGAAGTGGAGGTGAAGG	0.547													11	101					1.58986e-06	1.64875e-06	1	1	0	T	140174912	G	T	140174912	2	4	45	1	0	0	0	0	0	0	0	1	11571	1335	47	5		5	PCDHA2	5	140174912	Silent	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		140174912	40740348	10	793											
OR2B2	81697	broad.mit.edu	37	chr6	27879977	27879977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaattattgtcagattgcCaaagattgtcaagatatagg	16	12	9	4	0	2	4	2	0	0	4	2	4	2	4	1	1	1	0	1	1	7	6			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr6:27879977C>A	ENST00000303324.2	-	1	197	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	41					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						GTCAGATTGCCAAAGATTGTC	0.398													26	67					4.22769e-11	4.5529e-11	1	1	0	A	27879977	C	A	27879977	3	1	45	1	0	0	0	0	1	0	0	0	11037	594	21	5	956	5	OR2B2	6	27879977	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		27879977	143235090	11	794											
ITGB8	3696	broad.mit.edu	37	chr7	20421427	20421427	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtctcatctcgctcttgaTagcaaattggcaggcatagt	10	12	9	10	2	3	1	1	1	3	0	5	1	3	1	0	2	1	4	0	2	3	4			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr7:20421427T>C	ENST00000222573.4	+	6	1563	c.879T>C	c.(877-879)gaT>gaC	p.D293D	ITGB8_ENST00000537992.1_Silent_p.D158D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		VWFA.				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						TCGCTCTTGATAGCAAATTGG	0.428													11	56					0	0	1	0	0	C	20421427	T	C	20421427	2	2	45	1	0	0	0	0	0	0	0	1	7945	1403	49	4		4	ITGB8	7	20421427	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08		20421427	138717236	12	795											
CA2	760	broad.mit.edu	37	chr8	86389348	86389348	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtatttgccttgttctaGggcaagagtgctgacttcac	7	14	11	9	1	2	2	1	1	1	1	2	2	2	2	1	1	3	4	1	1	3	6			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr8:86389348G>A	ENST00000285379.5	+	6	737		c.e6-1			NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II						one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCTTGTTCTAGGGCAAGAGTG	0.502													90	53					0	0	1	0	0	A	86389348	G	A	86389348	5	1	45	1	0	0	0	0	0	0	1	0	2534	1014	35	3	529	3	CA2	8	86389348	Splice_Site	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		86389348	59974674	13	796											
MUSK	4593	broad.mit.edu	37	chr9	113449430	113449430	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtacagcatccgggagaaTgggcagctcctcaccatcct	9	7	11	14	2	1	1	1	0	0	1	4	2	4	1	4	3	3	4	4	3	2	1			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr9:113449430T>C	ENST00000416899.2	+	3	366	c.240T>C	c.(238-240)aaT>aaC	p.N80N	MUSK_ENST00000374448.4_Silent_p.N80N|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Silent_p.N80N			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	80	Ig-like 1.				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						TCCGGGAGAATGGGCAGCTCC	0.488													8	66					0	0	1	0	0	C	113449430	T	C	113449430	2	2	45	1	0	0	0	0	0	0	0	1	10037	1461	51	4		4	MUSK	9	113449430	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08		113449430	27764001	14	797											
CD163	9332	broad.mit.edu	37	chr12	7649512	7649512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtccctggcaagaaacGctgtcaagccagatgtgtcc	10	9	10	12	1	2	2	2	0	0	2	4	2	4	2	3	1	2	2	3	1	3	0			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr12:7649512G>C	ENST00000359156.4	-	5	1198	c.996C>G	c.(994-996)agC>agG	p.S332R	CD163_ENST00000396620.3_Missense_Mutation_p.S332R|CD163_ENST00000541972.1_Missense_Mutation_p.S320R|CD163_ENST00000432237.2_Missense_Mutation_p.S332R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	332	SRCR 3.				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						GGCAAGAAACGCTGTCAAGCC	0.488													25	15					0	0	1	0	0	C	7649512	G	C	7649512	3	2	45	1	0	0	0	0	1	0	0	0	2989	1078	38	5	2522	5	CD163	12	7649512	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		7649512	126202383	15	798											
KIF7	374654	broad.mit.edu	37	chr15	90185583	90185583	+	Frame_Shift_Del	DEL	C	C	-																															cacctgctctgcctcctgctCcagctcccggatacgctggc																										TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr15:90185583delC	ENST00000394412.3	-	11	2321	c.2245delG	c.(2245-2247)gagfs	p.E749fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	749					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTCCTGCTCCAGCTCCCGG	0.667													2	4	---	---	---	---						-	90185583	C	-	90185583	7	5	45	1	0	1	0	1	0	0	0	0	8351	864	30	0	1822	0	KIF7	15	90185583	Frame_Shift_Del	DEL	C	TCGA-VD-A8KG-01A-11D-A39W-08		90185583	12345809	16	799											
DVL2	1856	broad.mit.edu	37	chr17	7133647	7133647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaatgccgctggtcctctCgggtggcaaaggaggtaaag	9	7	14	11	2	1	0	0	0	1	0	3	1	2	1	3	5	1	3	3	5	4	1			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:7133647C>T	ENST00000005340.5	-	3	649	c.367G>A	c.(367-369)Gag>Aag	p.E123K	DVL2_ENST00000575458.1_Missense_Mutation_p.E123K|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	123					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTGGTCCTCTCGGGTGGCAAA	0.617													26	30					0	0	1	0	0	T	7133647	C	T	7133647	3	4	45	1	0	0	0	0	1	0	0	0	4862	893	31	1	1895	1	DVL2	17	7133647	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		7133647	74061563	17	800											
TTC25	83538	broad.mit.edu	37	chr17	40107073	40107073	+	RNA	DEL	G	G	-																															aggaacacggtggaaaggatGgtgctgagcagctcagtgat																										TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:40107073delG	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGGAAAGGATGGTGCTGAGCA	0.587													2	4	---	---	---	---						-	40107073	G	-	40107073	6	5	45	0	1	1	0	1	0	0	0	0	16755	1363	47	0		0	TTC25	17	40107073	RNA	DEL	G	TCGA-VD-A8KG-01A-11D-A39W-08	32973426	40107073	41088137	18	801											
ST8SIA3	51046	broad.mit.edu	37	chr18	55024275	55024275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctattagcaataacttccGgtcacttcttccagatgtgt	9	15	6	11	1	3	1	1	0	2	1	5	1	5	1	2	1	2	1	2	1	4	6			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr18:55024275G>A	ENST00000324000.3	+	3	2468	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	145					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATAACTTCCGGTCACTTCTT	0.383													26	50					0	0	1	0	0	A	55024275	G	A	55024275	3	1	45	1	0	0	0	0	1	0	0	0	15289	1116	39	1	444	1	ST8SIA3	18	55024275	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		55024275	23052973	19	802											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								14	17					0	0	1	0	0	T	3118942	A	T	3118942	3	4	45	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		3118942	56010041	20	803											
DSCAM	1826	broad.mit.edu	37	chr21	42064866	42064866	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcctccacacggactgtAtagggctcccgtaaaactgg	9	9	11	12	2	0	0	0	0	0	0	3	1	3	1	3	4	1	3	3	4	4	3			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr21:42064866A>T	ENST00000400454.1	-	3	855	c.378T>A	c.(376-378)taT>taA	p.Y126*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	126	Ig-like C2-type 1.|Ig-like C2-type 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)				CACGGACTGTATAGGGCTCCC	0.498													19	105					0	0	1	0	0	T	42064866	A	T	42064866	4	4	45	1	0	0	0	0	0	1	0	0	4794	456	16	5	5784	5	DSCAM	21	42064866	Nonsense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		42064866	6065029	21	804											
SMC1A	8243	broad.mit.edu	37	chrX	53410065	53410065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactttccagcttttccAtggccttcatgttgggggcg	5	13	12	11	1	1	0	1	0	0	0	3	1	3	1	3	4	1	2	3	4	0	5			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:53410065A>G	ENST00000322213.4	-	20	3210	c.3083T>C	c.(3082-3084)aTg>aCg	p.M1028T		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1028					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGCTTTTCCATGGCCTTCAT	0.507													14	16					0	0	1	0	0	G	53410065	A	G	53410065	3	3	45	1	0	0	0	0	1	0	0	0	14835	217	8	4	642	4	SMC1A	23	53410065	Missense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		53410065	101860495	22	805											
FRMD7	90167	broad.mit.edu	37	chrX	131212668	131212668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcttgtgaggccagaataTatgctcatgtgattaccaga	11	13	10	7	0	1	4	1	2	0	2	1	4	1	4	2	1	3	2	2	1	4	5			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:131212668T>C	ENST00000298542.4	-	12	1552	c.1377A>G	c.(1375-1377)atA>atG	p.I459M	FRMD7_ENST00000464296.1_Missense_Mutation_p.I444M|FRMD7_ENST00000370879.1_Missense_Mutation_p.I339M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	459					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGCCAGAATATATGCTCATGT	0.453													57	97					0	0	1	0	0	C	131212668	T	C	131212668	3	2	45	1	0	0	0	0	1	0	0	0	6090	1396	49	4	771	4	FRMD7	23	131212668	Missense_Mutation	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08	77802603	131212668	24057892	23	806											
SOX3	6658	broad.mit.edu	37	chrX	139586345	139586347	+	In_Frame_Del	DEL	GGC	GGC	-																															ggtgcatcggcggcagcgcgGgcggcggcggcgggctgctc																										TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:139586345_139586347delGGC	ENST00000370536.2	-	1	878_880	c.879_881delGCC	c.(877-882)ccgccc>ccc	p.293_294PP>P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	293	Poly-Pro.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					cggcagcgcgggcggcggcggcg	0.719													2	4	---	---	---	---						-	139586347	GGC	-	139586345	7	5	45	1	0	1	0	1	0	0	0	0	15005	1232	43	0	463	0	SOX3	23	139586345	In_Frame_Del	DEL	GGC	TCGA-VD-A8KG-01A-11D-A39W-08	8373677	139586345	15684215	24	807											
CD160	11126	broad.mit.edu	37	chr1	145706743	145706743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcacagcagcctctgcCgggttccaacagcatcctgc	8	6	11	16	1	1	0	0	0	1	0	3	0	3	0	4	2	6	4	4	2	1	1			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:145706743C>A	ENST00000369290.1	-	2	173	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	CD160_ENST00000235933.6_Missense_Mutation_p.G6C|CD160_ENST00000369288.2_Missense_Mutation_p.G6C|CD160_ENST00000401557.3_Missense_Mutation_p.G6C			O95971	BY55_HUMAN	CD160 molecule	6					cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CAGCCTCTGCCGGGTTCCAAC	0.577													3	34					1	1	1	1	0	A	145706743	C	A	145706743	3	1	46	1	0	0	0	0	1	0	0	0	2988	652	23	5	545	5	CD160	1	145706743	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		145706743	103543878	1	808											
PSEN2	5664	broad.mit.edu	37	chr1	227071592	227071592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagccaccatcaagtctgtgCgcttctacacagagaagaat	13	9	8	11	1	3	2	1	0	2	2	3	3	3	2	2	0	3	1	2	0	5	3			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:227071592C>T	ENST00000366782.1	+	5	927	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	PSEN2_ENST00000366783.3_Missense_Mutation_p.R110C|PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	110					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CAAGTCTGTGCGCTTCTACAC	0.602													4	101					0	0	1	0	0	T	227071592	C	T	227071592	3	4	46	1	0	0	0	0	1	0	0	0	12700	768	27	1	334	1	PSEN2	1	227071592	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	81364849	227071592	22179029	2	809											
TTN	7273	broad.mit.edu	37	chr2	179427170	179427170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttcaaccacataacCagtaattttgctgccaccat	12	12	4	13	0	1	0	1	0	0	0	1	0	1	0	4	0	5	3	4	0	3	5			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:179427170C>A	ENST00000589042.1	-	326	83913	c.83689G>T	c.(83689-83691)Ggt>Tgt	p.G27897C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26256C|TTN_ENST00000342175.6_Missense_Mutation_p.G19024C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18957C|TTN_ENST00000342992.6_Missense_Mutation_p.G25329C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18832C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26256	Fibronectin type-III 103.						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)			ACCACATAACCAGTAATTTTG	0.443													3	47					1	1	1	1	0	A	179427170	C	A	179427170	3	1	46	1	0	0	0	0	1	0	0	0	16797	594	21	5	24438	5	TTN	2	179427170	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		179427170	63772203	3	810											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								23	33					0	0	1	0	0	T	198267483	C	T	198267483	3	4	46	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	18840313	198267483	44931890	4	811											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221299	44221299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcccccctctcgagggCgatgaggatgcgtctcgcat	7	8	13	13	4	2	2	0	1	2	1	5	6	3	3	3	2	1	1	3	2	0	0	rs143048794	byFrequency	TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr6:44221299C>T	ENST00000371554.1	+	12	2353	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	713					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.G713G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCTCGAGGGCGATGAGGATG	0.498											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	45					0	0	1	0	0	T	44221299	C	T	44221299	2	4	46	1	0	0	0	0	0	0	0	1	7445	755	27	1		1	HSP90AB1	6	44221299	Silent	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		44221299	126893768	5	812											
SLC12A9	56996	broad.mit.edu	37	chr7	100460341	100460342	+	Frame_Shift_Ins	INS	-	-	T																															tgtacagccgcagtatggggINScatggctcagcctggtggac																										TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr7:100460341_100460342insT	ENST00000354161.3	+	13	1875_1876	c.1750_1751insT	c.(1750-1752)gcafs	p.A584fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A584fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A584fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	584						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)					GCAGTATGGGGCATGGCTCAGC	0.574													19	44	---	---	---	---						T	100460342	-	T	100460341	7	5	46	1	0	1	1	0	0	0	0	0	14445	1203	42	0	1796	0	SLC12A9	7	100460341	Frame_Shift_Ins	INS	-	TCGA-VD-A8KH-01A-11D-A39W-08		100460341	58678322	6	813											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998589	8998589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgatgtcgaaggagaaCgtgtccctgtctgaaccggc	10	8	13	10	3	1	3	0	2	1	1	3	5	2	3	2	2	3	1	2	2	4	0			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr8:8998589C>T	ENST00000310455.3	-	2	723	c.573G>A	c.(571-573)acG>acA	p.T191T	PPP1R3B_ENST00000519699.1_Silent_p.T191T	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	191	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)		CGAAGGAGAACGTGTCCCTGT	0.483													37	44					0	0	1	0	0	T	8998589	C	T	8998589	2	4	46	1	0	0	0	0	0	0	0	1	12421	523	19	1		1	PPP1R3B	8	8998589	Silent	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		8998589	137365433	7	814											
NCOA2	10499	broad.mit.edu	37	chr8	71050447	71050447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggactcacctgttttggCtggcaaaagacgcctggtct	8	11	11	11	1	3	1	2	0	1	1	3	2	3	2	2	4	0	3	2	4	2	2			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr8:71050447C>T	ENST00000452400.2	-	15	3330	c.3149G>A	c.(3148-3150)aGc>aAc	p.S1050N	NCOA2_ENST00000267974.4_Missense_Mutation_p.S138N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1050					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCTGTTTTGGCTGGCAAAAGA	0.488			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								19	16					0	0	1	0	0	T	71050447	C	T	71050447	3	4	46	1	0	0	0	0	1	0	0	0	10276	797	28	2	1281	2	NCOA2	8	71050447	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	62051858	71050447	75313575	8	815											
MMP20	9313	broad.mit.edu	37	chr11	102487572	102487572	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtattttttttccatttGggttcaccagggaagaggcg	10	14	11	6	1	1	1	1	0	0	1	2	2	2	2	2	3	0	2	2	3	3	7			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr11:102487572G>C	ENST00000260228.2	-	2	357	c.345C>G	c.(343-345)ccC>ccG	p.P115P	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	115					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P115P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTTTCCATTTGGGTTCACCAG	0.418													18	23					0	0	1	0	0	C	102487572	G	C	102487572	2	2	46	1	0	0	0	0	0	0	0	1	9707	1335	47	5		5	MMP20	11	102487572	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		102487572	32518944	9	816											
PDE3A	5139	broad.mit.edu	37	chr12	20766410	20766410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattactgtggacatcgccGtcatgggcgaggcccacggc	7	8	14	12	4	1	0	1	0	0	0	2	2	1	1	2	4	1	1	2	4	2	2	rs150253039	byFrequency	TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr12:20766410G>A	ENST00000359062.3	+	3	1085	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					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	p.V349I(2)		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)	GGACATCGCCGTCATGGGCGA	0.517													4	73					0	0	1	0	0	A	20766410	G	A	20766410	3	1	46	1	0	0	0	0	1	0	0	0	11684	1145	40	1	1055	1	PDE3A	12	20766410	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		20766410	113085485	10	817											
SKA3	221150	broad.mit.edu	37	chr13	21746793	21746793	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgaatgaaggtcatatAaaattctcattggataatct	14	15	6	6	0	4	2	2	2	3	0	5	3	4	3	0	2	0	0	0	2	6	6			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr13:21746793A>T	ENST00000314759.5	-	2	255	c.131T>A	c.(130-132)tTa>tAa	p.L44*	SKA3_ENST00000400018.3_Nonsense_Mutation_p.L44*	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	44					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGGTCATATAAAATTCTCAT	0.279													7	14					0	0	1	0	0	T	21746793	A	T	21746793	4	4	46	1	0	0	0	0	0	1	0	0	14409	372	13	5	1186	5	SKA3	13	21746793	Nonsense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08		21746793	93423085	11	818											
KIAA0556	23247	broad.mit.edu	37	chr16	27642480	27642480	+	Frame_Shift_Del	DEL	C	C	-																															gtccagcgccgaggatggcaCcaggtctggagactgtggcc																								rs138512782		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr16:27642480delC	ENST00000261588.4	+	5	424	c.405delC	c.(403-405)cacfs	p.H135fs		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	135										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						GAGGATGGCACCAGGTCTGGA	0.527													2	4	---	---	---	---						-	27642480	C	-	27642480	7	5	46	1	0	1	0	1	0	0	0	0	8225	506	18	0	423	0	KIAA0556	16	27642480	Frame_Shift_Del	DEL	C	TCGA-VD-A8KH-01A-11D-A39W-08		27642480	62712273	12	819											
RND2	8153	broad.mit.edu	37	chr17	41180481	41180481	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaggtgggggctgtGtcctatgttgagtgctcctc	5	11	15	10	0	0	1	0	1	0	0	3	1	2	1	3	3	2	4	3	3	2	2			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:41180481G>T	ENST00000544533.1	+	5	578	c.471G>T	c.(469-471)gtG>gtT	p.V157V	RND2_ENST00000587250.2_Silent_p.V156V	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	156					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGGGCTGTGTCCTATGTTG	0.587													26	41					5.8336e-16	7.15942e-16	1	1	0	T	41180481	G	T	41180481	2	4	46	1	0	0	0	0	0	0	0	1	13472	1364	48	5		5	RND2	17	41180481	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		41180481	40014729	13	820											
SOST	50964	broad.mit.edu	37	chr17	41835968	41835968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgttgttctccagctccgGtggaggctcggggtactctc	3	13	13	12	2	2	0	0	0	2	0	6	1	3	1	2	5	2	5	2	5	1	4			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:41835968G>A	ENST00000301691.2	-	1	188	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	48					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TCCAGCTCCGGTGGAGGCTCG	0.607													33	48					0	0	1	0	0	A	41835968	G	A	41835968	3	1	46	1	0	0	0	0	1	0	0	0	14992	1261	44	3	507	3	SOST	17	41835968	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	655487	41835968	39359242	14	821											
GPATCH8	23131	broad.mit.edu	37	chr17	42477396	42477396	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacgtttgtgtttgctggaTtttttgtgcttctttttctt	2	26	8	5	1	2	0	0	0	2	0	2	1	2	1	0	1	3	4	0	1	1	10			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:42477396T>C	ENST00000434000.1	-	9	2097	c.1815A>G	c.(1813-1815)aaA>aaG	p.K605K	GPATCH8_ENST00000591680.1_Silent_p.K683K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	683						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)		GTTTGCTGGATTTTTTGTGCT	0.463													73	96					0	0	1	0	0	C	42477396	T	C	42477396	2	2	46	1	0	0	0	0	0	0	0	1	6634	1490	52	4		4	GPATCH8	17	42477396	Silent	SNP	T	TCGA-VD-A8KH-01A-11D-A39W-08	641428	42477396	38717814	15	822											
NXPH3	11248	broad.mit.edu	37	chr17	47656053	47656053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgggtgcctcggaagcgGggccacatctcacctaagtc	7	6	12	16	3	1	0	1	0	1	0	4	1	1	1	5	4	2	0	5	4	2	1			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:47656053G>A	ENST00000328741.5	+	2	512	c.150G>A	c.(148-150)cgG>cgA	p.R50R	NXPH3_ENST00000513748.1_Silent_p.R50R	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	50	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTCGGAAGCGGGGCCACATCT	0.677													43	31					0	0	1	0	0	A	47656053	G	A	47656053	2	1	46	1	0	0	0	0	0	0	0	1	10840	1219	43	3		3	NXPH3	17	47656053	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	5178657	47656053	33539157	16	823											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								26	24					0	0	1	0	0	T	3118942	A	T	3118942	3	4	46	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08		3118942	56010041	17	824											
RBM12	10137	broad.mit.edu	37	chr20	34241273	34241273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgggcagtcccacaccggGcagtcccgcattgggcattc	7	7	12	15	2	0	0	0	0	0	0	3	0	2	0	3	3	0	4	3	3	0	2			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr20:34241273G>T	ENST00000374114.3	-	3	2235	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P658T|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P658T|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	658	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA 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)			CCCACACCGGGCAGTCCCGCA	0.582													21	39					4.35082e-09	4.89467e-09	1	1	0	T	34241273	G	T	34241273	3	4	46	1	0	0	0	0	1	0	0	0	13165	1203	42	5	830	5	RBM12	20	34241273	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		34241273	28784247	18	825											
MCM5	4174	broad.mit.edu	37	chr22	35811891	35811891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagggacccttcgtccCggaatttcatcatggagggc	8	10	13	10	2	2	2	2	2	0	0	4	5	3	5	2	4	0	0	2	4	1	2			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:35811891C>T	ENST00000216122.4	+	10	1427	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R382W	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	425	MCM.				cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTTCGTCCCGGAATTTCAT	0.592													105	145					0	0	1	0	0	T	35811891	C	T	35811891	3	4	46	1	0	0	0	0	1	0	0	0	9440	643	23	1	1307	1	MCM5	22	35811891	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		35811891	15492675	19	826											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51040256	51040256	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagaatttgacgacgAagatctgtctgagatcactg	12	10	11	8	2	3	4	1	2	2	3	3	8	3	5	1	1	0	0	1	1	3	1			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:51040256A>C	ENST00000329492.3	+	2	221	c.104A>C	c.(103-105)gAa>gCa	p.E35A	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E35A	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	35	Asp/Glu-rich (acidic).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|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)		TTTGACGACGAAGATCTGTCT	0.577													18	47					0	0	1	0	0	C	51040256	A	C	51040256	3	2	46	1	0	0	0	0	1	0	0	0	9335	246	9	5	110	5	MAPK8IP2	22	51040256	Missense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08	15228365	51040256	264310	20	827											
KAL1	3730	broad.mit.edu	37	chrX	8699907	8699907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggagatgcgagtgatCtgcaggctcaggcacctgga	10	6	16	9	2	2	2	1	1	1	1	2	5	2	3	1	5	2	3	1	5	1	0			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chrX:8699907C>A	ENST00000262648.3	-	1	320	c.171G>T	c.(169-171)caG>caT	p.Q57H		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	57					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGCGAGTGATCTGCAGGCTCA	0.756													17	2					3.62473e-10	4.25512e-10	1	1	0	A	8699907	C	A	8699907	3	1	46	1	0	0	0	0	1	0	0	0	8018	912	32	5	1927	5	KAL1	23	8699907	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		8699907	146570653	21	828											
TEX13A	56157	broad.mit.edu	37	chrX	104463874	104463874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaaaggcctcccagtcGgaaggcagctgaggcggaac	11	5	14	11	2	1	1	1	1	0	0	3	3	2	3	2	5	2	3	2	5	4	1			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chrX:104463874G>A	ENST00000372578.3	-	3	1115	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L	TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Silent_p.S334S|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537													3	31					0	0	1	0	0	A	104463874	G	A	104463874	3	1	46	1	0	0	0	0	1	0	0	0	15835	1116	39	1	231	1	TEX13A	23	104463874	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	95763967	104463874	50806686	22	829											
C1orf86	199990	broad.mit.edu	37	chr1	2125233	2125233	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgccctcctgccccGtgaagcagccggtaggaacg	7	6	13	15	3	0	1	0	1	0	0	2	2	2	2	6	3	5	2	6	3	3	1			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:2125233G>A	ENST00000400919.3	-	0	306				C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000378546.4_Silent_p.H105H|C1orf86_ENST00000487186.1_5'UTR	NM_001282671.1	NP_001269600.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86											central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCTGCCCCGTGAAGCAGCC	0.697													13	28					0	0	1	0	0	A	2125233	G	A	2125233	1	1	47	1	0	0	0	0	0	0	0	0	2077	1145	40	1		1	C1orf86	1	2125233	Translation_Start_Site	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08		2125233	247125388	1	830											
C1orf94	84970	broad.mit.edu	37	chr1	34663232	34663232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcaagcttctgtcccagTtcccactgaagtccactgag	9	10	8	14	0	2	2	1	2	1	0	5	2	5	2	3	0	2	3	3	0	2	2			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:34663232T>C	ENST00000488417.1	+	2	847	c.727T>C	c.(727-729)Ttc>Ctc	p.F243L	C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTCCCAGTTCCCACTGAA	0.547													23	17					0	0	1	0	0	C	34663232	T	C	34663232	3	2	47	1	0	0	0	0	1	0	0	0	2085	1725	60	4	733	4	C1orf94	1	34663232	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08	32537999	34663232	214587389	2	831											
COL9A2	1298	broad.mit.edu	37	chr1	40771434	40771434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaaggccctgcgggcccgGctcaccctgcaggaaaacag	10	3	14	14	2	1	0	1	0	0	0	1	2	1	2	3	5	3	2	3	5	3	0			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:40771434G>A	ENST00000372748.3	-	21	1156	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	354	Triple-helical region 3 (COL3).				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)			TGCGGGCCCGGCTCACCCTGC	0.602													3	33					0	0	1	0	0	A	40771434	G	A	40771434	3	1	47	1	0	0	0	0	1	0	0	0	3731	1203	42	2	1057	2	COL9A2	1	40771434	Missense_Mutation	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08	6108202	40771434	208479187	3	832											
PTBP2	58155	broad.mit.edu	37	chr1	97278911	97278911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcttcataattataacCttggagaaaaccatcatctg	14	14	5	8	0	4	2	2	1	2	1	4	3	4	2	2	1	2	0	2	1	5	6			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:97278911C>G	ENST00000609116.1	+	14	1631	c.1549C>G	c.(1549-1551)Ctt>Gtt	p.L517V	PTBP2_ENST00000426398.2_Missense_Mutation_p.L516V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 4.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAATTATAACCTTGGAGAAAA	0.363													33	52					0	0	1	0	0	G	97278911	C	G	97278911	3	3	47	1	0	0	0	0	1	0	0	0	12775	681	24	5	1600	5	PTBP2	1	97278911	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	56507477	97278911	151971710	4	833											
IL18R1	8809	broad.mit.edu	37	chr2	102998134	102998134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttaaccatgttgcagTggaattaggtatatttcaat	14	14	8	5	0	1	0	1	0	0	0	1	1	1	1	1	2	3	4	1	2	7	6	rs56076776		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr2:102998134T>C	ENST00000409599.1	+	7	1036	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	227	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATGTTGCAGTGGAATTAGGT	0.343													13	17					0	0	1	0	0	C	102998134	T	C	102998134	3	2	47	1	0	0	0	0	1	0	0	0	7691	1696	59	4	698	4	IL18R1	2	102998134	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		102998134	140201239	5	834											
BAP1	8314	broad.mit.edu	37	chr3	52437427	52437448	+	Splice_Site	DEL	CCCACCTGTCAGCGCCAGGGGA	CCCACCTGTCAGCGCCAGGGGA	-																															gccagtgagccagtccaaggCccacctgtcagcgccagggg																										TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	ENST00000460680.1	-	13	2184_2201	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	c.(1711-1731)agtcccctggcgctgacaggt>agt	p.PLALTG572fs	BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	572					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P572fs*69(1)		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)		CAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCC	0.595			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							4	3	---	---	---	---						-	52437448	CCCACCTGTCAGCGCCAGGGGA	-	52437427	8	5	47	1	0	1	0	1	0	0	1	0	1309	754	26	0		0	BAP1	3	52437427	Splice_Site	DEL	CCCACCTGTCAGCGCCAGGGGA	TCGA-VD-A8KI-01A-11D-A39W-08		52437427	145585003	6	835											
C4orf17	84103	broad.mit.edu	37	chr4	100463085	100463085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgagcacaagcctcCactacttataagaagaaata	17	7	8	9	0	0	4	0	1	0	3	1	4	1	4	2	1	3	2	2	1	7	4			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:100463085C>T	ENST00000326581.4	+	9	1261	c.899C>T	c.(898-900)cCa>cTa	p.P300L		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	300										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CACAAGCCTCCACTACTTATA	0.363													14	16					0	0	1	0	0	T	100463085	C	T	100463085	3	4	47	1	0	0	0	0	1	0	0	0	2267	594	21	3	929	3	C4orf17	4	100463085	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		100463085	90691191	7	836											
KIAA1109	84162	broad.mit.edu	37	chr4	123275053	123275053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttaccaaaccatgtggtgCtttggaaagtcctatggcaa	11	11	11	8	0	0	0	0	0	0	0	1	1	1	1	3	4	3	3	3	4	5	3			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:123275053C>G	ENST00000264501.4	+	82	14559	c.14186C>G	c.(14185-14187)gCt>gGt	p.A4729G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G			Q2LD37	K1109_HUMAN	KIAA1109	4729					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						CCATGTGGTGCTTTGGAAAGT	0.383													18	28					0	0	1	0	0	G	123275053	C	G	123275053	3	3	47	1	0	0	0	0	1	0	0	0	8250	797	28	5	14504	5	KIAA1109	4	123275053	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	22811968	123275053	67879223	8	837											
DMXL1	1657	broad.mit.edu	37	chr5	118469695	118469695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaataaaagcactgttgaCgtggcatttcaggatcccag	14	9	9	9	1	1	1	1	1	0	0	2	2	2	2	1	2	1	3	1	2	4	3	rs141146454		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:118469695C>T	ENST00000311085.8	+	12	2156	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	DMXL1_ENST00000539542.1_Silent_p.D692D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	692										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)		GCACTGTTGACGTGGCATTTC	0.428													46	58					0	0	1	0	0	T	118469695	C	T	118469695	2	4	47	1	0	0	0	0	0	0	0	1	4622	535	19	1		1	DMXL1	5	118469695	Silent	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		118469695	62445565	9	838											
SQSTM1	8878	broad.mit.edu	37	chr5	179251203	179251203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcgcacagccgctggCtccggaaggtgaaacacgga	9	6	13	13	4	1	1	0	1	1	0	3	3	2	3	2	4	2	4	2	4	2	1			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:179251203C>T	ENST00000389805.4	+	4	731	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	185	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCGCTGGCTCCGGAAGGT	0.667													21	23					0	0	1	0	0	T	179251203	C	T	179251203	3	4	47	1	0	0	0	0	1	0	0	0	15186	797	28	2	567	2	SQSTM1	5	179251203	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	60781508	179251203	1664057	10	839											
FOXF2	2295	broad.mit.edu	37	chr6	1391338	1391338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacttgcaccagaacgctCgcgaggacctctcaggtaac	10	7	10	14	3	1	1	1	0	1	1	3	3	1	2	2	2	4	4	2	2	3	3			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr6:1391338C>T	ENST00000259806.1	+	1	1270	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	386					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCAGAACGCTCGCGAGGACCT	0.677													10	9					0	0	1	0	0	T	1391338	C	T	1391338	3	4	47	1	0	0	0	0	1	0	0	0	6040	884	31	1	1158	1	FOXF2	6	1391338	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		1391338	169723729	11	840											
BZW2	28969	broad.mit.edu	37	chr7	16722416	16722416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttaggtcttcaataaActcatcaggagatataagta	14	16	6	5	0	4	1	3	0	1	1	4	2	4	1	0	2	1	1	0	2	7	9			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:16722416A>G	ENST00000433922.2	+	5	529	c.351A>G	c.(349-351)aaA>aaG	p.K117K	BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000452975.2_Silent_p.K117K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	117					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCTTCAATAAACTCATCAGGA	0.289													6	34					0	0	1	0	0	G	16722416	A	G	16722416	2	3	47	1	0	0	0	0	0	0	0	1	1582	40	2	4		4	BZW2	7	16722416	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		16722416	142416247	12	841											
HOXA4	3201	broad.mit.edu	37	chr7	27168859	27168859	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagattatatggaggagggAacgggtgtggaggtgctcgg	10	8	20	3	2	0	1	0	0	0	1	1	6	0	5	0	7	2	1	0	7	4	2			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:27168859A>T	ENST00000360046.5	-	2	1013	c.948T>A	c.(946-948)gtT>gtA	p.V316V	HOXA4_ENST00000428284.2_Silent_p.V316V|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	316						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						tggaggagggaacgggtgtgg	0.572													8	18					0	0	1	0	0	T	27168859	A	T	27168859	2	4	47	1	0	0	0	0	0	0	0	1	7335	233	9	5		5	HOXA4	7	27168859	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08	10446443	27168859	131969804	13	842											
STYXL1	51657	broad.mit.edu	37	chr7	75625885	75625885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgatttggacacatgttGtttttgcacttcttgacata	8	16	7	10	1	1	1	0	1	1	0	1	3	1	2	2	1	1	3	2	1	1	7			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:75625885G>A	ENST00000248600.1	-	9	1185	c.843C>T	c.(841-843)aaC>aaT	p.N281N	STYXL1_ENST00000431581.1_Silent_p.N281N|STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	281	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACACATGTTGTTTTTGCACT	0.478													31	28					0	0	1	0	0	A	75625885	G	A	75625885	2	1	47	1	0	0	0	0	0	0	0	1	15417	1368	48	3		3	STYXL1	7	75625885	Silent	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08	48457026	75625885	83512778	14	843											
FAM71F1	84691	broad.mit.edu	37	chr7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccctgtctcagatttttgCcgacttacaccagcagaacc	10	10	7	14	1	1	2	1	0	1	2	2	3	1	2	4	0	5	1	4	0	2	3			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502													4	82					0	0	1	0	0	T	128363345	C	T	128363345	3	4	47	1	0	0	0	0	1	0	0	0	5647	739	26	2	796	2	FAM71F1	7	128363345	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	52737460	128363345	30775318	15	844											
ST18	9705	broad.mit.edu	37	chr8	53030985	53030985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatccaaatgcctaatttcTtcatcactctctattcctgt	9	17	2	13	0	5	0	3	0	2	0	8	0	7	0	3	0	1	0	3	0	3	5			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr8:53030985T>C	ENST00000276480.7	-	24	3455	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	924						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)				GCCTAATTTCTTCATCACTCT	0.308													3	79					0	0	1	0	0	C	53030985	T	C	53030985	2	2	47	1	0	0	0	0	0	0	0	1	15268	1606	56	4		4	ST18	8	53030985	Silent	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		53030985	93333037	16	845											
GNAQ	2776	broad.mit.edu	37	chr9	80537255	80537255	+	Missense_Mutation	SNP	C	C	A																															acgtactcttgccactctctCctgtccctgaaagatgaaca																										TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537255C>A	ENST00000286548.4	-	2	365	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCCACTCTCTCCTGTCCCTGA	0.448			Mis		uveal melanoma								25	45					2.14196e-07	2.20889e-07	1	1	0	A	80537255	C	A	80537255	3	1	47	1	0	0	0	0	1	0	0	0	6551	855	30	5	960	5	GNAQ	9	80537255	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		80537255	60676176	17	846	9	2									
GNAQ	2776	broad.mit.edu	37	chr9	80537256	80537256	+	Nonsense_Mutation	SNP	C	C	A																															cgtactcttgccactctctcCtgtccctgaaagatgaacaa																										TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537256C>A	ENST00000286548.4	-	2	364	c.142G>T	c.(142-144)Gga>Tga	p.G48*		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCACTCTCTCCTGTCCCTGAA	0.448			Mis		uveal melanoma								24	45					1.74197e-06	1.74197e-06	1	1	0	A	80537256	C	A	80537256	4	1	47	1	0	0	0	0	0	1	0	0	6551	690	24	5	961	5	GNAQ	9	80537256	Nonsense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	1	80537256	60676175	18	847	9	2									
NCAM1	4684	broad.mit.edu	37	chr11	113102955	113102955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaaccaggtgaacatcaCctgcgaggtatttgcctatc	10	9	12	10	1	1	1	1	1	0	0	2	3	1	2	3	4	4	1	3	4	4	3			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:113102955C>T	ENST00000316851.7	+	10	1274	c.1274C>T	c.(1273-1275)aCc>aTc	p.T425I	NCAM1_ENST00000533760.1_Missense_Mutation_p.T307I|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	435	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAACATCACCTGCGAGGTA	0.512													11	17					0	0	1	0	0	T	113102955	C	T	113102955	3	4	47	1	0	0	0	0	1	0	0	0	10249	507	18	3	1347	3	NCAM1	11	113102955	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		113102955	21903561	19	848											
HEPN1	641654	broad.mit.edu	37	chr11	124789907	124789907	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctctttattttgatgttAgtgtgattagggagtctgcc	7	17	11	6	0	2	2	0	2	2	0	2	3	2	3	2	1	2	1	2	1	3	6			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:124789907A>G	ENST00000408930.5	+	1	762	c.261A>G	c.(259-261)ttA>ttG	p.L87L	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	87						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TTTTGATGTTAGTGTGATTAG	0.547													18	33					0	0	1	0	0	G	124789907	A	G	124789907	2	3	47	1	0	0	0	0	0	0	0	1	7097	417	15	4		4	HEPN1	11	124789907	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08	11686952	124789907	10216609	20	849											
BRCA2	675	broad.mit.edu	37	chr13	32945119	32945119	+	Missense_Mutation	SNP	A	A	T																															gagaagacatcatctggattAtacatatttcgcaatgaaag																										TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945119A>T	ENST00000544455.1	+	20	8741	c.8514A>T	c.(8512-8514)ttA>ttT	p.L2838F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L2838F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2838					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	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|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)		CATCTGGATTATACATATTTC	0.373			"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)			16	28					0	0	1	0	0	T	32945119	A	T	32945119	3	4	47	1	0	0	0	0	1	0	0	0	1501	446	16	5	8588	5	BRCA2	13	32945119	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		32945119	82224759	21	850	10	2									
BRCA2	675	broad.mit.edu	37	chr13	32945125	32945135	+	Frame_Shift_Del	DEL	ATTTCGCAATG	ATTTCGCAATG	-																															acatcatctggattatacatAtttcgcaatgaaagagagga																								rs80359105		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945125_32945135delATTTCGCAATG	ENST00000544455.1	+	20	8747_8757	c.8520_8530delATTTCGCAATG	c.(8518-8532)atatttcgcaatgaafs	p.FRNE2841fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.FRNE2841fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2841					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	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.F2841I(2)|p.R2842C(1)		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)		GATTATACATATTTCGCAATGAAAGAGAGGA	0.355			"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)			17	36	---	---	---	---						-	32945135	ATTTCGCAATG	-	32945125	7	5	47	1	0	1	0	1	0	0	0	0	1501	439	16	0	8594	0	BRCA2	13	32945125	Frame_Shift_Del	DEL	ATTTCGCAATG	TCGA-VD-A8KI-01A-11D-A39W-08	6	32945125	82224753	22	851	10	2									
TYRO3	7301	broad.mit.edu	37	chr15	41863798	41863798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccttctcctagctgacAtcattgcctcaagcgacatt	9	12	5	15	1	3	1	2	1	1	0	5	2	4	1	4	0	3	1	4	0	2	4			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:41863798A>G	ENST00000263798.3	+	14	1890	c.1666A>G	c.(1666-1668)Atc>Gtc	p.I556V	TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	556	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTAGCTGACATCATTGCCTC	0.502													46	30					0	0	1	0	0	G	41863798	A	G	41863798	3	3	47	1	0	0	0	0	1	0	0	0	16876	217	8	4	1720	4	TYRO3	15	41863798	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		41863798	60667594	23	852											
MAPKBP1	23005	broad.mit.edu	37	chr15	42117611	42117611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcttcgagccgtggaaCggcgtatggaacgcaaactc	9	9	13	10	5	0	0	0	0	0	0	2	3	0	2	1	3	5	4	1	3	4	3			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:42117611C>T	ENST00000457542.2	+	31	4790	c.4504C>T	c.(4504-4506)Cgg>Tgg	p.R1502W	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										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)		AGCCGTGGAACGGCGTATGGA	0.587													24	4					0	0	1	0	0	T	42117611	C	T	42117611	3	4	47	1	0	0	0	0	1	0	0	0	9342	527	19	1	4644	1	MAPKBP1	15	42117611	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	253813	42117611	60413781	24	853											
NOD2	64127	broad.mit.edu	37	chr16	50757249	50757249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagtgtgggtgcccaaGccttggcactgatgctggca	6	10	15	10	0	0	1	0	1	0	0	0	1	0	1	2	4	3	4	2	4	1	2			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:50757249G>A	ENST00000300589.2	+	9	2941	c.2836G>A	c.(2836-2838)Gcc>Acc	p.A946T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	946					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|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 signaling pathway|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			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGTGCCCAAGCCTTGGCACT	0.507													10	17					0	0	1	0	0	A	50757249	G	A	50757249	3	1	47	1	0	0	0	0	1	0	0	0	10564	971	34	2	2870	2	NOD2	16	50757249	Missense_Mutation	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08		50757249	39597504	25	854											
FANCA	2175	broad.mit.edu	37	chr16	89882378	89882378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcaggattatatttttcCctcttgacccttcccgctac	6	17	4	14	1	2	1	1	1	1	0	4	2	4	2	3	1	1	1	3	1	3	8			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:89882378C>T	ENST00000389301.3	-	2	126	c.96G>A	c.(94-96)agG>agA	p.R32R	FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000568369.1_Silent_p.R32R|FANCA_ENST00000534992.1_Silent_p.R32R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	32					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TATATTTTTCCCTCTTGACCC	0.552			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	24					0	0	1	0	0	T	89882378	C	T	89882378	2	4	47	1	0	0	0	0	0	0	0	1	5695	622	22	3		3	FANCA	16	89882378	Silent	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	39125129	89882378	472375	26	855											
SULF2	55959	broad.mit.edu	37	chr20	46295178	46295178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtacaccctgccgtccAcctcgatggccactgagcgg	6	7	12	16	4	0	1	0	1	0	0	2	2	1	1	5	3	3	1	5	3	1	1			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr20:46295178A>T	ENST00000359930.4	-	12	2482	c.1631T>A	c.(1630-1632)gTg>gAg	p.V544E	SULF2_ENST00000361612.4_Missense_Mutation_p.V544E|SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000467815.1_Missense_Mutation_p.V544E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	544					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	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						CCTGCCGTCCACCTCGATGGC	0.627													27	41					0	0	1	0	0	T	46295178	A	T	46295178	3	4	47	1	0	0	0	0	1	0	0	0	15427	159	6	5	1021	5	SULF2	20	46295178	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		46295178	16730342	27	856											
ATP1B4	23439	broad.mit.edu	37	chrX	119513467	119513467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtgggcagggtaatctTtaccctgaacatagaaactt	11	14	9	7	0	1	2	0	1	1	1	1	2	1	2	1	2	3	2	1	2	5	7			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chrX:119513467T>C	ENST00000218008.3	+	8	1109	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	351					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						AGGGTAATCTTTACCCTGAAC	0.438													36	4					0	0	1	0	0	C	119513467	T	C	119513467	3	2	47	1	0	0	0	0	1	0	0	0	1134	1841	64	4	1082	4	ATP1B4	23	119513467	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		119513467	35757093	28	857											
SCNM1	79005	broad.mit.edu	37	chr1	151140660	151140660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtctccctttcccctatgCcaccctcagaggtcaaactc	7	11	5	18	0	3	1	2	0	1	1	6	1	4	1	5	1	2	0	5	1	2	2			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr1:151140660C>T	ENST00000368905.4	+	6	550	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	147					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	p.P147S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	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)			TTCCCCTATGCCACCCTCAGA	0.552													4	240					0	0	1	0	0	T	151140660	C	T	151140660	3	4	48	1	0	0	0	0	1	0	0	0	13980	739	26	2	461	2	SCNM1	1	151140660	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08		151140660	98109961	1	858											
ODC1	4953	broad.mit.edu	37	chr2	10582209	10582209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagcgtgaaagctgatGcaacatagtatctgccgggc	11	8	12	10	2	1	2	0	2	1	0	1	2	1	2	1	1	6	4	1	1	5	2			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr2:10582209G>A	ENST00000234111.4	-	9	1352	c.842C>T	c.(841-843)gCa>gTa	p.A281V	ODC1_ENST00000405333.1_Missense_Mutation_p.A281V	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	281					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	GAAAGCTGATGCAACATAGTA	0.438													7	58					0	0	1	0	0	A	10582209	G	A	10582209	3	1	48	1	0	0	0	0	1	0	0	0	10873	1319	46	2	559	2	ODC1	2	10582209	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		10582209	232617164	2	859											
AFF3	3899	broad.mit.edu	37	chr2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccacttgttagaggatgCcggttcagcctgaaagcaga	10	9	12	10	1	1	3	1	1	0	2	1	4	1	4	3	2	4	3	3	2	2	3			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A486T(1)		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						TTAGAGGATGCCGGTTCAGCC	0.443													5	158					0	0	1	0	0	T	100210742	C	T	100210742	3	4	48	1	0	0	0	0	1	0	0	0	357	739	26	2	2343	2	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08	89628533	100210742	142988631	3	860											
NFE2L2	4780	broad.mit.edu	37	chr2	178096252	178096252	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagctggaagattccactGagtgttctggtgatgccaca	10	11	11	9	0	1	3	0	2	1	1	2	4	2	4	2	2	2	2	2	2	2	3			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr2:178096252G>T	ENST00000397062.3	-	5	1633	c.1079C>A	c.(1078-1080)tCa>tAa	p.S360*	NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S337*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S344*|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S344*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	360					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)			AGATTCCACTGAGTGTTCTGG	0.473			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			20	139					1.50039e-11	1.61581e-11	1	1	0	T	178096252	G	T	178096252	4	4	48	1	0	0	0	0	0	1	0	0	10415	1294	45	5	742	5	NFE2L2	2	178096252	Nonsense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08	77885510	178096252	65103121	4	861											
CLEC3B	7123	broad.mit.edu	37	chr3	45077259	45077259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacatgaccggcgcccGcatcgcctacaagaactggg	9	5	14	13	4	0	2	0	1	0	1	1	3	0	3	3	4	2	1	3	4	3	1			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr3:45077259G>A	ENST00000296130.4	+	3	632	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.R109H	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	151	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGGCGCCCGCATCGCCTAC	0.662													3	33					0	0	1	0	0	A	45077259	G	A	45077259	3	1	48	1	0	0	0	0	1	0	0	0	3534	1087	38	1	462	1	CLEC3B	3	45077259	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		45077259	152945171	5	862											
UTRN	7402	broad.mit.edu	37	chr6	145095480	145095480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagcaatcaaaatccgaaGactacaaaaagcactatgtt	19	8	5	9	1	1	1	1	0	0	1	2	2	2	1	1	0	4	3	1	0	9	4			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr6:145095480G>A	ENST00000367545.3	+	59	8612	c.8612G>A	c.(8611-8613)aGa>aAa	p.R2871K	UTRN_ENST00000367526.4_Missense_Mutation_p.R426K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2871	Interaction with SYNM.				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)		AAAATCCGAAGACTACAAAAA	0.318													32	29					0	0	1	0	0	A	145095480	G	A	145095480	3	1	48	1	0	0	0	0	1	0	0	0	17163	942	33	3	8846	3	UTRN	6	145095480	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		145095480	26019587	6	863											
PKHD1L1	93035	broad.mit.edu	37	chr8	110456078	110456078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccactggaacagtaaatGaactaataacaattattgga	17	10	7	7	1	0	1	0	1	0	0	1	3	1	3	1	2	3	1	1	2	8	5			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr8:110456078G>A	ENST00000378402.5	+	37	4842	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1580	IPT/TIG 8.				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)			AACAGTAAATGAACTAATAAC	0.328										HNSCC(38;0.096)			7	77					0	0	1	0	0	A	110456078	G	A	110456078	3	1	48	1	0	0	0	0	1	0	0	0	12020	1291	45	3	4884	3	PKHD1L1	8	110456078	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		110456078	35907944	7	864											
STK33	65975	broad.mit.edu	37	chr11	8435082	8435082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgtaattggcatcaGggacatttccccagggttgg	9	11	13	8	0	1	1	1	1	0	0	2	2	2	2	2	4	0	3	2	4	2	4			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr11:8435082G>C	ENST00000447869.1	-	11	2222	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	STK33_ENST00000396673.1_Intron|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.P394R|STK33_ENST00000315204.1_Missense_Mutation_p.P435R|STK33_ENST00000396672.1_Missense_Mutation_p.P435R|STK33_ENST00000358872.3_Missense_Mutation_p.P248R			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	435						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATTGGCATCAGGGACATTTCC	0.418													45	77					0	0	1	0	0	C	8435082	G	C	8435082	3	2	48	1	0	0	0	0	1	0	0	0	15356	1000	35	5	248	5	STK33	11	8435082	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		8435082	126571434	8	865											
UMOD	7369	broad.mit.edu	37	chr16	20357567	20357567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtacatgaagaccttgtCgaagcccagactcttcagct	11	9	9	12	1	2	3	1	1	1	2	3	4	2	3	2	1	3	2	2	1	3	3			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr16:20357567C>T	ENST00000396134.2	-	6	1285	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	UMOD_ENST00000302509.4_Missense_Mutation_p.D355N|UMOD_ENST00000570689.1_Missense_Mutation_p.D355N|UMOD_ENST00000396138.4_Missense_Mutation_p.D404N|UMOD_ENST00000424589.1_Missense_Mutation_p.D388N|UMOD_ENST00000396142.2_Missense_Mutation_p.D355N	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	355	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						AAGACCTTGTCGAAGCCCAGA	0.582													29	35					0	0	1	0	0	T	20357567	C	T	20357567	3	4	48	1	0	0	0	0	1	0	0	0	17039	884	31	1	887	1	UMOD	16	20357567	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08		20357567	69997186	9	866											
ABR	29	broad.mit.edu	37	chr17	915998	915998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggtcctcttcaggctcaTatctcggctggtgaatttca	6	13	11	11	2	5	1	3	1	2	0	7	1	6	1	1	5	0	2	1	5	2	3			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr17:915998T>C	ENST00000544583.2	-	18	2352	c.1753A>G	c.(1753-1755)Atg>Gtg	p.M585V	ABR_ENST00000574437.1_Missense_Mutation_p.M585V|ABR_ENST00000572441.1_Missense_Mutation_p.M82V|ABR_ENST00000543210.2_Missense_Mutation_p.M82V|ABR_ENST00000536794.2_Missense_Mutation_p.M413V|ABR_ENST00000291107.2_Missense_Mutation_p.M594V|ABR_ENST00000302538.5_Missense_Mutation_p.M631V	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	631	C2.				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|protein binding|Rho guanyl-nucleotide exchange factor activity			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)		TTCAGGCTCATATCTCGGCTG	0.567													4	2					0	0	1	0	0	C	915998	T	C	915998	3	2	48	1	0	0	0	0	1	0	0	0	99	1406	49	4	712	4	ABR	17	915998	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08		915998	80279212	10	867											
MBP	4155	broad.mit.edu	37	chr18	74729169	74729169	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgtgcgcttggagtcAgtcaccgctgtgtcctgaga	5	11	13	12	3	2	1	2	1	0	1	4	3	4	2	3	1	1	3	3	1	0	1	rs144597580		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr18:74729169A>C	ENST00000397860.3	-	4	409	c.195T>G	c.(193-195)acT>acG	p.T65T	MBP_ENST00000580402.1_Silent_p.T65T|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000397863.1_Silent_p.T65T|MBP_ENST00000355994.2_Silent_p.T65T|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000579129.1_Silent_p.T65T	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	65					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GCTTGGAGTCAGTCACCGCTG	0.582													13	23					0	0	1	0	0	C	74729169	A	C	74729169	2	2	48	1	0	0	0	0	0	0	0	1	9409	175	7	5		5	MBP	18	74729169	Silent	SNP	A	TCGA-VD-A8KJ-01A-11D-A39W-08		74729169	3348079	11	868											
NFIC	4782	broad.mit.edu	37	chr19	3382229	3382229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctacctggcctacttcGtgcgtgagcgaggtgaggtg	6	10	14	11	3	1	2	0	2	1	0	2	3	1	2	3	3	4	0	3	3	2	3			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:3382229G>C	ENST00000589123.1	+	2	643	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	NFIC_ENST00000346156.5_Missense_Mutation_p.V175L|NFIC_ENST00000395111.3_Missense_Mutation_p.V175L|NFIC_ENST00000590282.1_Missense_Mutation_p.V184L|NFIC_ENST00000341919.3_Missense_Mutation_p.V184L|NFIC_ENST00000586919.1_Missense_Mutation_p.V175L|NFIC_ENST00000443272.2_Missense_Mutation_p.V184L	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	184					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)		GGCCTACTTCGTGCGTGAGCG	0.687													25	31					0	0	1	0	0	C	3382229	G	C	3382229	3	2	48	1	0	0	0	0	1	0	0	0	10419	1145	40	5	563	5	NFIC	19	3382229	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		3382229	55746754	12	869											
RGL3	57139	broad.mit.edu	37	chr19	11517462	11517462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggagctggggacctTgaggcatgagcccttcctct	7	9	13	12	0	1	2	0	2	1	0	3	4	3	4	4	4	2	2	4	4	0	2			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:11517462T>G	ENST00000380456.3	-	6	779	c.716A>C	c.(715-717)cAa>cCa	p.Q239P	RGL3_ENST00000393423.3_Missense_Mutation_p.Q239P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	239					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTGGGGACCTTGAGGCATGAG	0.587													6	23					0	0	1	0	0	G	11517462	T	G	11517462	3	3	48	1	0	0	0	0	1	0	0	0	13330	1812	63	5	1490	5	RGL3	19	11517462	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08	8135233	11517462	47611521	13	870											
CPAMD8	27151	broad.mit.edu	37	chr19	17025480	17025480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcacctggatgtccttgTtcaggaccctgcccacggcc	6	9	9	17	1	2	0	2	0	0	0	3	2	3	2	5	3	1	1	5	3	0	2			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:17025480T>C	ENST00000443236.1	-	28	3945	c.3914A>G	c.(3913-3915)aAc>aGc	p.N1305S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1258						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GATGTCCTTGTTCAGGACCCT	0.657													3	23					0	0	1	0	0	C	17025480	T	C	17025480	3	2	48	1	0	0	0	0	1	0	0	0	3818	1725	60	4	1944	4	CPAMD8	19	17025480	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08	5508018	17025480	42103503	14	871											
PRR19	284338	broad.mit.edu	37	chr19	42814091	42814091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaggaaccagccccaCggtccagggacaaagagaac	13	1	13	14	1	0	1	0	0	0	1	1	4	1	3	5	4	3	0	5	4	3	0	rs139508954	byFrequency	TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:42814091C>T	ENST00000499536.2	+	1	1166	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PRR19_ENST00000598490.1_Missense_Mutation_p.R119W|PRR19_ENST00000341747.3_Missense_Mutation_p.R119W			A6NJB7	PRR19_HUMAN	proline rich 19	119										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ACCAGCCCCACGGTCCAGGGA	0.677													17	17					0	0	1	0	0	T	42814091	C	T	42814091	3	4	48	1	0	0	0	0	1	0	0	0	12643	527	19	1	357	1	PRR19	19	42814091	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08	25788611	42814091	16314892	15	872											
IGLL1	3543	broad.mit.edu	37	chr22	23922214	23922214	+	Frame_Shift_Del	DEL	G	G	-																															tggaccggctgcttcctccaGgggctccagggcccagggcc																										TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr22:23922214delG	ENST00000330377.2	-	1	281	c.164delC	c.(163-165)cctfs	p.P55fs	IGLL1_ENST00000249053.3_Frame_Shift_Del_p.P55fs	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	55					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCTTCCTCCAGGGGCTCCAGG	0.692													2	4	---	---	---	---						-	23922214	G	-	23922214	7	5	48	1	0	1	0	1	0	0	0	0	7637	1000	35	0	489	0	IGLL1	22	23922214	Frame_Shift_Del	DEL	G	TCGA-VD-A8KJ-01A-11D-A39W-08		23922214	27382352	16	873											
FCRL1	115350	broad.mit.edu	37	chr1	157771734	157771734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtcaccgcctcactgCgctgggcccccaggccattg	5	8	12	16	2	2	1	2	1	0	0	2	1	2	1	5	2	1	1	5	2	0	1			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr1:157771734C>T	ENST00000358292.3	-	5	908	c.857G>A	c.(856-858)cGc>cAc	p.R286H	FCRL1_ENST00000491942.1_Missense_Mutation_p.R286H|FCRL1_ENST00000368176.3_Missense_Mutation_p.R286H|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGCCTCACTGCGCTGGGCCCC	0.562													37	47					0	0	1	0	0	T	157771734	C	T	157771734	3	4	49	1	0	0	0	0	1	0	0	0	5827	768	27	1	526	1	FCRL1	1	157771734	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		157771734	91478887	1	874											
BAP1	8314	broad.mit.edu	37	chr3	52441978	52441978	+	Frame_Shift_Del	DEL	G	G	-																															aggcactgcagcctacctcaGggctgaaacccttggtgaag																										TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr3:52441978delG	ENST00000460680.1	-	5	842	c.371delC	c.(370-372)cctfs	p.P124fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	124					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.F118fs*1(1)		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)		GCCTACCTCAGGGCTGAAACC	0.567			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							17	4	---	---	---	---						-	52441978	G	-	52441978	7	5	49	1	0	1	0	1	0	0	0	0	1309	1000	35	0	1870	0	BAP1	3	52441978	Frame_Shift_Del	DEL	G	TCGA-VD-A8KK-01A-11D-A39W-08		52441978	145580452	2	875											
CENPE	1062	broad.mit.edu	37	chr4	104074328	104074328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcctttgttgctcaattAtctcattatccttaacatct	8	20	2	11	0	4	0	2	0	3	0	7	0	6	0	2	0	2	2	2	0	4	6			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr4:104074328A>G	ENST00000265148.3	-	25	3202	c.3113T>C	c.(3112-3114)aTa>aCa	p.I1038T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1013T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1038					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGCTCAATTATCTCATTATC	0.313													8	6					0	0	1	0	0	G	104074328	A	G	104074328	3	3	49	1	0	0	0	0	1	0	0	0	3252	449	16	4	5092	4	CENPE	4	104074328	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		104074328	87079948	3	876											
PDE4D	5144	broad.mit.edu	37	chr5	58289225	58289225	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtttgatataaactctGacacttgatttccagaccga	12	14	7	8	1	1	4	0	3	1	1	2	5	2	4	2	0	1	1	2	0	3	5			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr5:58289225G>C	ENST00000340635.6	-	7	1164	c.989C>G	c.(988-990)tCa>tGa	p.S330*	PDE4D_ENST00000507116.1_Nonsense_Mutation_p.S266*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.S200*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.S269*|PDE4D_ENST00000317118.8_Nonsense_Mutation_p.S39*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.S194*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.S28*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.S269*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.S208*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	330					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)	TATAAACTCTGACACTTGATT	0.338													21	25					0	0	1	0	0	C	58289225	G	C	58289225	4	2	49	1	0	0	0	0	0	1	0	0	11689	1294	45	5	1476	5	PDE4D	5	58289225	Nonsense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		58289225	122626035	4	877											
C5orf20	140947	broad.mit.edu	37	chr5	134782379	134782379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagactgtgtgaactgtgaaCgggtagagtctgaaactaca	13	9	13	6	1	1	5	0	3	1	2	1	6	1	5	0	1	4	1	0	1	5	2			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr5:134782379C>T	ENST00000503143.2	-	1	659	c.420G>A	c.(418-420)ccG>ccA	p.P140P	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	140						nucleus		p.P140P(1)		endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGAACGGGTAGAGTC	0.517													57	88					0	0	1	0	0	T	134782379	C	T	134782379	2	4	49	1	0	0	0	0	0	0	0	1	2299	523	19	1		1	C5orf20	5	134782379	Silent	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08	76493154	134782379	46132881	5	878											
PSMB8	5696	broad.mit.edu	37	chr6	32809923	32809923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaccttcttatcccaGccacagatcatactgcccat	10	9	4	18	0	2	1	1	0	1	1	3	1	3	1	5	0	3	1	5	0	2	3			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr6:32809923G>A	ENST00000374881.2	-	4	802	c.513C>T	c.(511-513)ggC>ggT	p.G171G	PSMB8_ENST00000374882.3_Silent_p.G175G|PSMB8_ENST00000395339.3_Silent_p.G151G	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	175					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCTTATCCCAGCCACAGATCA	0.522													3	36					0	0	1	0	0	A	32809923	G	A	32809923	2	1	49	1	0	0	0	0	0	0	0	1	12732	958	34	2		2	PSMB8	6	32809923	Silent	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		32809923	138305144	6	879											
HEATR2	54919	broad.mit.edu	37	chr7	803563	803563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgcaccttgactggaccGcacactcgccggagctcctg	6	7	11	17	5	0	1	0	1	0	0	3	3	1	3	4	2	1	3	4	2	0	1			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr7:803563G>A	ENST00000297440.6	+	8	1755	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	HEATR2_ENST00000313147.5_Missense_Mutation_p.A579T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	579							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)		TGACTGGACCGCACACTCGCC	0.657													4	101					0	0	1	0	0	A	803563	G	A	803563	3	1	49	1	0	0	0	0	1	0	0	0	7069	1087	38	1	1765	1	HEATR2	7	803563	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		803563	158335100	7	880											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								39	75					0	0	1	0	0	G	80409488	T	G	80409488	3	3	49	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		80409488	60803943	8	881											
COL27A1	85301	broad.mit.edu	37	chr9	117027754	117027754	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcctcccaggagaacCggtaagagccctttccttcc	9	7	10	15	1	0	2	0	0	0	2	3	3	3	2	6	3	2	1	6	3	3	3			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr9:117027754C>A	ENST00000356083.3	+	32	3783	c.3392C>A	c.(3391-3393)cCg>cAg	p.P1131Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1131	Collagen-like 9.|Pro-rich.|Triple-helical region.				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						CCAGGAGAACCGGTAAGAGCC	0.612													3	50					1	1	1	1	0	A	117027754	C	A	117027754	5	1	49	1	0	0	0	0	0	0	1	0	3708	666	23	5	3518	5	COL27A1	9	117027754	Splice_Site	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08	36618266	117027754	24185677	9	882											
STAM	8027	broad.mit.edu	37	chr10	17686366	17686366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgccaccaatcccttcGatcaggatgttggtaagtgt	8	15	9	9	1	1	0	1	0	0	0	3	2	2	1	3	2	1	2	3	2	2	5			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr10:17686366G>T	ENST00000377524.3	+	1	243	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	10					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	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CAATCCCTTCGATCAGGATGT	0.617													3	26					1	1	1	1	0	T	17686366	G	T	17686366	3	4	49	1	0	0	0	0	1	0	0	0	15304	1058	37	5	30	5	STAM	10	17686366	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		17686366	117848381	10	883											
C11orf54	28970	broad.mit.edu	37	chr11	93487180	93487180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggagcaggtccatttCagactctcgggttcaattct	9	11	11	10	1	4	1	2	0	2	1	6	3	5	2	1	3	2	3	1	3	1	3			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr11:93487180C>A	ENST00000528288.1	+	5	542	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	C11orf54_ENST00000540113.1_Missense_Mutation_p.Q84K|C11orf54_ENST00000354421.3_Missense_Mutation_p.Q103K|C11orf54_ENST00000528099.1_Missense_Mutation_p.Q103K|C11orf54_ENST00000331239.4_Missense_Mutation_p.Q103K	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	103						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTCCATTTCAGACTCTCGG	0.338													4	149					1	1	1	1	0	A	93487180	C	A	93487180	3	1	49	1	0	0	0	0	1	0	0	0	1654	827	29	5	321	5	C11orf54	11	93487180	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		93487180	41519336	11	884											
SORL1	6653	broad.mit.edu	37	chr11	121323156	121323157	+	Frame_Shift_Ins	INS	-	-	C																															cagaggctgcacggcggcagINScgcgcccttgccccaggacc																										TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr11:121323156_121323157insC	ENST00000260197.7	+	1	245_246	c.116_117insC	c.(115-120)agcgcgfs	p.A40fs	SORL1_ENST00000532451.1_3'UTR|RP11-730K11.1_ENST00000529160.1_RNA|RP11-730K11.1_ENST00000501964.1_RNA	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	40					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)		CACGGCGGCAGCGCGCCCTTGC	0.743													2	4	---	---	---	---						C	121323157	-	C	121323156	7	5	49	1	0	1	1	0	0	0	0	0	14988	971	34	0	118	0	SORL1	11	121323156	Frame_Shift_Ins	INS	-	TCGA-VD-A8KK-01A-11D-A39W-08	27835976	121323156	13683360	12	885											
RERGL	79785	broad.mit.edu	37	chr12	18237495	18237495	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccggattctgtagatcagCgcttttgcaaaagcaaatga	12	11	9	9	2	2	2	1	1	1	1	3	3	3	3	1	1	3	4	1	1	4	4			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:18237495C>T	ENST00000536890.1	-	4	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RERGL_ENST00000538724.1_Silent_p.A96A|RERGL_ENST00000229002.2_Silent_p.A97A|RERGL_ENST00000541632.1_5'UTR			Q9H628	RERGL_HUMAN	RERG/RAS-like	0	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						TGTAGATCAGCGCTTTTGCAA	0.383													4	109					0	0	1	0	0	T	18237495	C	T	18237495	5	4	49	1	0	0	0	0	0	0	1	0	13285	755	27	1	334	1	RERGL	12	18237495	Splice_Site	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		18237495	115614400	13	886											
OVCH1	341350	broad.mit.edu	37	chr12	29597085	29597085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacttccttaccccatagTagttctgtgagaatttcttg	9	16	7	9	0	2	2	0	2	2	1	3	3	3	2	3	0	1	2	3	0	4	7			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:29597085T>C	ENST00000318184.5	-	24	3009	c.3010A>G	c.(3010-3012)Act>Gct	p.T1004A	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1004					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)					TACCCCATAGTAGTTCTGTGA	0.398													83	89					0	0	1	0	0	C	29597085	T	C	29597085	3	2	49	1	0	0	0	0	1	0	0	0	11370	1638	57	4	414	4	OVCH1	12	29597085	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08	11359590	29597085	104254810	14	887											
IRAK3	0	broad.mit.edu	37	chr12	66638726	66638726	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttctatatattccttgtAggtaataatggaagttctaa	13	17	6	5	0	2	0	0	0	2	0	3	1	3	1	1	2	0	3	1	2	8	11			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:66638726A>G	ENST00000261233.4	+	10	1507		c.e10-1		IRAK3_ENST00000457197.2_Splice_Site	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3						interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCTTGTAGGTAATAATG	0.318													38	37					0	0	1	0	0	G	66638726	A	G	66638726	5	3	49	1	0	0	0	0	0	0	1	0	7868	434	15	4	1123	4	IRAK3	12	66638726	Splice_Site	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	37041641	66638726	67213169	15	888											
CAND1	55832	broad.mit.edu	37	chr12	67705551	67705551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggttggaccgacttgttGagccattacgtgcaacatgt	10	11	12	8	2	0	2	0	1	0	1	0	4	0	3	2	2	4	3	2	2	2	4			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:67705551G>A	ENST00000545606.1	+	14	3876	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1147					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)		CCGACTTGTTGAGCCATTACG	0.403													50	59					0	0	1	0	0	A	67705551	G	A	67705551	3	1	49	1	0	0	0	0	1	0	0	0	2633	1291	45	3	3493	3	CAND1	12	67705551	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	1066825	67705551	66146344	16	889											
LCP1	3936	broad.mit.edu	37	chr13	46701814	46701814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaccaggtcttctggcaggGcatacactcttgctccaatt	9	11	8	13	0	3	0	0	0	3	0	4	0	4	0	2	3	3	3	2	3	3	4			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr13:46701814G>A	ENST00000398576.2	-	19	2184	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TTCTGGCAGGGCATACACTCT	0.488			T	BCL6	NHL								4	155					0	0	1	0	0	A	46701814	G	A	46701814	3	1	49	1	0	0	0	0	1	0	0	0	8730	1203	42	2	91	2	LCP1	13	46701814	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		46701814	68468064	17	890											
FUS	2521	broad.mit.edu	37	chr16	31193944	31193944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccacggacacttcaggctAtggccagagcagctattctt	9	10	10	12	1	2	1	1	0	1	1	3	2	3	2	2	3	2	3	2	3	2	5			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr16:31193944A>G	ENST00000254108.7	+	3	254	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Missense_Mutation_p.Y50C|FUS_ENST00000380244.3_Missense_Mutation_p.Y50C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	50	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ACTTCAGGCTATGGCCAGAGC	0.522			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								60	53					0	0	1	0	0	G	31193944	A	G	31193944	3	3	49	1	0	0	0	0	1	0	0	0	6135	449	16	4	159	4	FUS	16	31193944	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		31193944	59160809	18	891											
OR7D4	125958	broad.mit.edu	37	chr19	9325198	9325198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatccattccagcaaacaTcattaaaaaatacacctgag	18	9	4	10	0	1	1	1	1	0	0	3	1	3	1	3	0	3	2	3	0	6	4			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:9325198T>C	ENST00000308682.2	-	1	344	c.316A>G	c.(316-318)Atg>Gtg	p.M106V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCAGCAAACATCATTAAAAAA	0.512													30	43					0	0	1	0	0	C	9325198	T	C	9325198	3	2	49	1	0	0	0	0	1	0	0	0	11267	1435	50	4	626	4	OR7D4	19	9325198	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		9325198	49803785	19	892											
ZNF527	84503	broad.mit.edu	37	chr19	37880647	37880647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaggcttttcatcagAtcttgtccctaagactacac	10	12	9	10	0	3	2	2	0	1	2	4	3	4	3	1	2	1	1	1	2	3	5			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:37880647A>G	ENST00000436120.2	+	5	1803	c.1696A>G	c.(1696-1698)Atc>Gtc	p.I566V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCATCAGATCTTGTCCCT	0.398													35	37					0	0	1	0	0	G	37880647	A	G	37880647	3	3	49	1	0	0	0	0	1	0	0	0	18025	333	12	4	1710	4	ZNF527	19	37880647	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	28555449	37880647	21248336	20	893											
NUP62	23636	broad.mit.edu	37	chr19	50412426	50412426	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccagtgctggtgatGgtggctgtgggtgtgggagc	3	10	21	7	0	0	1	0	1	0	0	0	2	0	2	1	6	2	2	1	6	0	0			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:50412426G>C	ENST00000596217.1	-	2	2526	c.639C>G	c.(637-639)acC>acG	p.T213T	NUP62_ENST00000413454.1_Silent_p.T213T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T213T|NUP62_ENST00000597723.1_Silent_p.T213T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.T213T|NUP62_ENST00000352066.3_Silent_p.T213T			P37198	NUP62_HUMAN	nucleoporin 62kDa	213	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCTGGTGATGGTGGCTGTGG	0.647													56	49					0	0	1	0	0	C	50412426	G	C	50412426	2	2	49	1	0	0	0	0	0	0	0	1	10816	1335	47	5		5	NUP62	19	50412426	Silent	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	12531779	50412426	8716557	21	894											
VPREB3	29802	broad.mit.edu	37	chr22	24095146	24095146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaatggtgaggacacaggCattgtgggcctcatccttgg	9	10	13	9	0	1	1	1	1	0	0	2	2	2	2	2	5	0	1	2	5	1	3			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr22:24095146C>T	ENST00000248948.3	-	2	393	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	VPREB3_ENST00000398465.3_Missense_Mutation_p.A81T	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	97	Ig-like.					endoplasmic reticulum				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				AGGACACAGGCATTGTGGGCC	0.587													25	24					0	0	1	0	0	T	24095146	C	T	24095146	3	4	49	1	0	0	0	0	1	0	0	0	17247	710	25	2	86	2	VPREB3	22	24095146	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		24095146	27209420	22	895											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs71905623		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				3	26					0	0	1	0	0	T	66765161	A	T	66765161	3	4	49	1	0	0	0	0	1	0	0	0	833	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		66765161	88505399	23	896											
C1orf127	148345	broad.mit.edu	37	chr1	11014184	11014184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttcccggggttcctcCgacttcttggcatcgctgtg	2	15	12	12	3	1	0	0	0	1	0	5	1	4	0	3	3	0	4	3	3	0	5			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:11014184C>T	ENST00000377004.4	-	10	990	c.991G>A	c.(991-993)Gga>Aga	p.G331R	C1orf127_ENST00000377008.4_Missense_Mutation_p.G164R	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	182										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGGGTTCCTCCGACTTCTTGG	0.572													28	47					0	0	1	0	0	T	11014184	C	T	11014184	3	4	50	1	0	0	0	0	1	0	0	0	2007	661	23	1	1492	1	C1orf127	1	11014184	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		11014184	238236437	1	897											
LUZP1	7798	broad.mit.edu	37	chr1	23417948	23417948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttacctattcgagttgggGggtcttctaaagatttcaag	9	16	10	6	1	3	1	1	0	2	1	4	2	3	1	1	3	1	1	1	3	5	8			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:23417948G>A	ENST00000302291.4	-	4	3608	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	LUZP1_ENST00000314174.5_Missense_Mutation_p.P936L|LUZP1_ENST00000374623.3_Missense_Mutation_p.P936L|LUZP1_ENST00000418342.1_Missense_Mutation_p.P936L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	936						nucleus				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)		TCGAGTTGGGGGGTCTTCTAA	0.502													7	150					0	0	1	0	0	A	23417948	G	A	23417948	3	1	50	1	0	0	0	0	1	0	0	0	9131	1232	43	3	431	3	LUZP1	1	23417948	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	12403764	23417948	225832673	2	898											
PDE4DIP	9659	broad.mit.edu	37	chr1	144873916	144873916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccttgggggtattctgggGagttggcaagctgatggggt	5	12	18	6	0	1	1	0	1	1	0	2	2	2	2	1	7	1	4	1	7	2	4			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:144873916G>T	ENST00000369359.4	-	34	5487	c.5449C>A	c.(5449-5451)Ccc>Acc	p.P1817T	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1681T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1637T|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1681T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1681					cellular protein complex assembly	centrosome|Golgi apparatus|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)		GTATTCTGGGGAGTTGGCAAG	0.517			T	PDGFRB	MPD								84	205					2.06477e-34	2.41873e-34	1	1	0	T	144873916	G	T	144873916	3	4	50	1	0	0	0	0	1	0	0	0	11690	1174	41	5	2055	5	PDE4DIP	1	144873916	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	121455968	144873916	104376705	3	899											
GTF3C3	9330	broad.mit.edu	37	chr2	197657738	197657738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaatacaaatacatcgcccGcagtgggttgctcaggtgtt	10	10	10	11	2	1	0	1	0	0	0	2	0	1	0	2	2	3	4	2	2	4	4			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr2:197657738G>A	ENST00000263956.3	-	3	442	c.353C>T	c.(352-354)gCg>gTg	p.A118V	GTF3C3_ENST00000409364.3_Missense_Mutation_p.A118V	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	118						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACATCGCCCGCAGTGGGTTG	0.403													3	69					0	0	1	0	0	A	197657738	G	A	197657738	3	1	50	1	0	0	0	0	1	0	0	0	6915	1087	38	1	2371	1	GTF3C3	2	197657738	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		197657738	45541635	4	900											
BAP1	8314	broad.mit.edu	37	chr3	52443612	52443613	+	Frame_Shift_Ins	INS	-	-	C																															gtagatctcctccacttgcaINScccccttgacacctgcgatg																										TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr3:52443612_52443613insC	ENST00000460680.1	-	3	550_551	c.79_80insG	c.(79-81)gtgfs	p.V27fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.V27fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	27					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		CTCCACTTGCACCCCCTTGACA	0.629			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							131	24	---	---	---	---						C	52443613	-	C	52443612	7	5	50	1	0	1	1	0	0	0	0	0	1309	159	6	0	2169	0	BAP1	3	52443612	Frame_Shift_Ins	INS	-	TCGA-VD-A8KL-01A-11D-A39W-08		52443612	145578818	5	901											
SH3RF1	57630	broad.mit.edu	37	chr4	170037527	170037527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcactatccggccactggGctcagcctccagagaagcac	9	6	11	15	1	2	1	2	0	0	1	4	2	4	1	4	3	2	2	4	3	2	1			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr4:170037527G>A	ENST00000284637.9	-	10	2373	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	678						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGCCACTGGGCTCAGCCTCC	0.577													3	40					0	0	1	0	0	A	170037527	G	A	170037527	3	1	50	1	0	0	0	0	1	0	0	0	14313	1203	42	2	646	2	SH3RF1	4	170037527	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		170037527	21116749	6	902											
PCDHB7	0	broad.mit.edu	37	chr5	140554081	140554081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	6	9	12	14	4	0	0	0	0	0	0	2	2	0	1	2	2	5	3	2	2	2	1			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr5:140554081C>A	ENST00000231137.3	+	1	1839	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		555	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			TGGACGCCAACGACAACTCGC	0.726													44	26					2.45108e-15	2.71606e-15	1	1	0	A	140554081	C	A	140554081	3	1	50	1	0	0	0	0	1	0	0	0	11594	535	19	5	1667	5	PCDHB7	5	140554081	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		140554081	40361179	7	903											
IGFBP3	3486	broad.mit.edu	37	chr7	45956889	45956889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtagtcaactttgtagcGctggctgtctttagcatgcc	6	14	10	11	2	2	0	1	0	1	0	3	0	2	0	1	1	4	5	1	1	4	5			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:45956889G>A	ENST00000275521.6	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IGFBP3_ENST00000381086.5_Missense_Mutation_p.R88C|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R191C|IGFBP3_ENST00000465642.1_5'UTR	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	185					negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.R185C(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTTGTAGCGCTGGCTGTCT	0.507											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	94					0	0	1	0	0	A	45956889	G	A	45956889	3	1	50	1	0	0	0	0	1	0	0	0	7624	1087	38	1	334	1	IGFBP3	7	45956889	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		45956889	113181774	8	904											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542377	86542377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttctttctcaatgtaGtggcctggagggcaggggac	6	13	15	7	0	2	0	1	0	2	0	3	2	2	2	1	6	0	3	1	6	2	4			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:86542377G>A	ENST00000444627.1	-	14	1853	c.1736C>T	c.(1735-1737)aCt>aTt	p.T579I	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Silent_p.H385H|KIAA1324L_ENST00000450689.2_Silent_p.H625H|KIAA1324L_ENST00000416314.1_Silent_p.H458H			A8MWY0	K132L_HUMAN	KIAA1324-like	0						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTCAATGTAGTGGCCTGGAG	0.552													4	61					0	0	1	0	0	A	86542377	G	A	86542377	3	1	50	1	0	0	0	0	1	0	0	0	8266	1020	36	3	1250	3	KIAA1324L	7	86542377	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	40585488	86542377	72596286	9	905											
NRCAM	4897	broad.mit.edu	37	chr7	107871480	107871480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcaaaacttacaattaTccatccaaaatattataggt	18	14	2	7	0	1	0	1	0	0	0	3	0	3	0	2	1	2	0	2	1	11	6			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:107871480T>C	ENST00000379028.3	-	8	1015	c.545A>G	c.(544-546)gAt>gGt	p.D182G	NRCAM_ENST00000413765.2_Missense_Mutation_p.D182G|NRCAM_ENST00000351718.4_Missense_Mutation_p.D176G|NRCAM_ENST00000379024.4_Missense_Mutation_p.D182G|NRCAM_ENST00000379022.4_Missense_Mutation_p.D182G|NRCAM_ENST00000425651.2_Missense_Mutation_p.D182G			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	182	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTTACAATTATCCATCCAAAA	0.308													24	55					0	0	1	0	0	C	107871480	T	C	107871480	3	2	50	1	0	0	0	0	1	0	0	0	10692	1435	50	4	3503	4	NRCAM	7	107871480	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	21329103	107871480	51267183	10	906											
PAPPA	5069	broad.mit.edu	37	chr9	118949960	118949960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaattcagcaatgcccacGgctttctgctggacacgagt	9	10	11	11	2	2	0	1	0	1	0	2	3	2	2	1	3	3	3	1	3	2	2			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:118949960G>A	ENST00000328252.3	+	2	1312	c.943G>A	c.(943-945)Ggc>Agc	p.G315S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	315	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAATGCCCACGGCTTTCTGCT	0.552													16	12					0	0	1	0	0	A	118949960	G	A	118949960	3	1	50	1	0	0	0	0	1	0	0	0	11479	1116	39	1	949	1	PAPPA	9	118949960	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		118949960	22263471	11	907											
OR1Q1	158131	broad.mit.edu	37	chr9	125377737	125377737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaaaaccttttctaccTgcggctcccacctcactgtg	7	11	9	14	1	2	0	1	0	1	0	3	1	3	1	4	3	3	1	4	3	3	3			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:125377737T>C	ENST00000297913.2	+	1	790	c.721T>C	c.(721-723)Tgc>Cgc	p.C241R	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTTTCTACCTGCGGCTCCCA	0.562													4	69					0	0	1	0	0	C	125377737	T	C	125377737	3	2	50	1	0	0	0	0	1	0	0	0	11019	1580	55	4	723	4	OR1Q1	9	125377737	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	6427777	125377737	15835694	12	908											
FUBP3	8939	broad.mit.edu	37	chr9	133491801	133491801	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaatggacctggctttcAtaatgacatagacagcaaca	15	9	8	9	1	1	2	1	1	0	1	2	4	1	3	1	2	2	2	1	2	4	3			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:133491801A>T	ENST00000319725.9	+	7	539	c.464A>T	c.(463-465)cAt>cTt	p.H155L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCTGGCTTTCATAATGACATA	0.488													11	26					0	0	1	0	0	T	133491801	A	T	133491801	3	4	50	1	0	0	0	0	1	0	0	0	6128	217	8	5	490	5	FUBP3	9	133491801	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08	8114064	133491801	7721630	13	909											
DHTKD1	55526	broad.mit.edu	37	chr10	12159715	12159721	+	Frame_Shift_Del	DEL	TTAACCC	TTAACCC	-																															aatggcaccaggaacaacatTtaacccggtcattggtgatt																										TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:12159715_12159721delTTAACCC	ENST00000263035.4	+	14	2425_2431	c.2363_2369delTTAACCC	c.(2362-2370)tttaacccgfs	p.FNP788fs		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	788					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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)			GGAACAACATTTAACCCGGTCATTGGT	0.42													46	41	---	---	---	---						-	12159721	TTAACCC	-	12159715	7	5	50	1	0	1	0	1	0	0	0	0	4528	1841	64	0	2417	0	DHTKD1	10	12159715	Frame_Shift_Del	DEL	TTAACCC	TCGA-VD-A8KL-01A-11D-A39W-08		12159715	123375032	14	910											
RPP38	10557	broad.mit.edu	37	chr10	15146062	15146062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagcttgctgacggtcGgcaggcttctgtaacattac	10	10	12	9	2	1	2	0	1	1	1	2	3	1	2	0	3	4	5	0	3	3	4			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:15146062G>A	ENST00000378197.4	+	3	1263	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	NMT2_ENST00000466201.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.R250Q|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	250			R -> G (in dbSNP:rs34040166).		tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GCTGACGGTCGGCAGGCTTCT	0.393													22	50					0	0	1	0	0	A	15146062	G	A	15146062	3	1	50	1	0	0	0	0	1	0	0	0	13665	1116	39	1	751	1	RPP38	10	15146062	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	2986347	15146062	120388685	15	911											
PRKG1	5592	broad.mit.edu	37	chr10	52751284	52751284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagtcggtgctcccagTgccctcgacccacatcggcc	6	7	10	18	3	0	0	0	0	0	0	4	1	1	0	5	2	3	1	5	2	0	0			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:52751284T>G	ENST00000373985.1	+	1	167	c.110T>G	c.(109-111)gTg>gGg	p.V37G	PRKG1_ENST00000401604.2_Missense_Mutation_p.V49G	NM_001098512.2	NP_001091982.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	49	Dimerization.				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)		GTGCTCCCAGTGCCCTCGACC	0.622													6	5					0	0	1	0	0	G	52751284	T	G	52751284	3	3	50	1	0	0	0	0	1	0	0	0	12574	1696	59	5	148	5	PRKG1	10	52751284	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	37605222	52751284	82783463	16	912											
SLK	9748	broad.mit.edu	37	chr10	105758982	105758982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatagaaatggctgagatAgaaccacctcatcatgaatt	16	11	7	7	0	2	4	2	2	0	3	2	5	2	4	2	1	1	1	2	1	6	4	rs148478778		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:105758982A>G	ENST00000369755.3	+	6	1238	c.693A>G	c.(691-693)atA>atG	p.I231M	SLK_ENST00000335753.4_Missense_Mutation_p.I231M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	231	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGCTGAGATAGAACCACCTC	0.403													3	68					0	0	1	0	0	G	105758982	A	G	105758982	3	3	50	1	0	0	0	0	1	0	0	0	14802	410	15	4	715	4	SLK	10	105758982	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08	53007698	105758982	29775765	17	913											
PRLHR	2834	broad.mit.edu	37	chr10	120353694	120353694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggggggctatcttgcGgggccaagcgaccaacagtt	8	7	15	11	2	1	0	0	0	1	0	1	1	1	0	3	5	3	2	3	5	3	3			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:120353694G>A	ENST00000239032.2	-	2	1201	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	PRLHR_ENST00000369169.1_Missense_Mutation_p.R355C	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	355					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCTATCTTGCGGGGCCAAGCG	0.602													17	24					0	0	1	0	0	A	120353694	G	A	120353694	3	1	50	1	0	0	0	0	1	0	0	0	12582	1116	39	1	53	1	PRLHR	10	120353694	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	14594712	120353694	15181053	18	914											
SCN8A	6334	broad.mit.edu	37	chr12	52082555	52082555	+	Frame_Shift_Del	DEL	T	T	-																															tctgcaggtatataacagagTttgtaaacctaggcaatgtt																										TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr12:52082555delT	ENST00000354534.6	+	6	806	c.628delT	c.(628-630)tttfs	p.F210fs	SCN8A_ENST00000550891.1_Intron|SCN8A_ENST00000545061.1_Frame_Shift_Del_p.F210fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TATAACAGAGTTTGTAAACCT	0.448													9	158	---	---	---	---						-	52082555	T	-	52082555	7	5	50	1	0	1	0	1	0	0	0	0	13978	1725	60	0	646	0	SCN8A	12	52082555	Frame_Shift_Del	DEL	T	TCGA-VD-A8KL-01A-11D-A39W-08		52082555	81769340	19	915											
SLC39A5	283375	broad.mit.edu	37	chr12	56625257	56625257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctccacagcctggggCtaggccgagttcaggggctt	5	9	15	12	1	2	0	1	0	1	0	3	1	2	0	3	6	1	4	3	6	1	4			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr12:56625257C>A	ENST00000266980.4	+	2	492	c.199C>A	c.(199-201)Cta>Ata	p.L67I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.L67I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	67					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCCTGGGGCTAGGCCGAGT	0.637													35	49					9.8876e-21	1.12609e-20	1	1	0	A	56625257	C	A	56625257	3	1	50	1	0	0	0	0	1	0	0	0	14676	796	28	5	201	5	SLC39A5	12	56625257	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08	4542702	56625257	77226638	20	916											
GRIN2A	0	broad.mit.edu	37	chr16	9943759	9943759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacagtcggagaaggaCttgtacctgggccacacggc	9	6	14	12	2	1	1	1	0	0	1	2	3	1	2	2	5	1	2	2	5	2	2			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr16:9943759C>A	ENST00000396573.2	-	6	1491	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.K237N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K394N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K394N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	394					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|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)	CGGAGAAGGACTTGTACCTGG	0.582													4	50					0.014758	0.0151269	1	1	0	A	9943759	C	A	9943759	3	1	50	1	0	0	0	0	1	0	0	0	6820	564	20	5	3248	5	GRIN2A	16	9943759	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		9943759	80410994	21	917											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								20	35					0	0	1	0	0	T	3118942	A	T	3118942	3	4	50	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08		3118942	56010041	22	918											
ZNF341	84905	broad.mit.edu	37	chr20	32358081	32358081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcacagccccaagaaGgacaatgccgtctacaagta	15	4	8	14	1	1	1	0	0	1	1	1	2	1	2	4	1	4	2	4	1	6	2			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr20:32358081G>A	ENST00000375200.1	+	10	1970	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	ZNF341_ENST00000342427.2_Silent_p.K528K	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	535					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						GCCCCAAGAAGGACAATGCCG	0.647													27	5					0	0	1	0	0	A	32358081	G	A	32358081	2	1	50	1	0	0	0	0	0	0	0	1	17914	991	35	3		3	ZNF341	20	32358081	Silent	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		32358081	30667439	23	919											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-																															tgcagcagcagcagcagctcCagcagcagcagcagcagcag																										TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	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)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	42	---	---	---	---						-	20918918	CAG	-	20918916	7	5	50	1	0	1	0	1	0	0	0	0	9483	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-VD-A8KL-01A-11D-A39W-08		20918916	30385650	24	920											
SHROOM2	357	broad.mit.edu	37	chrX	9864553	9864553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcagacctgccgcggAggctcggcacctttgcagag	7	7	14	13	3	1	2	1	0	0	2	2	4	1	4	3	4	2	3	3	4	0	2			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chrX:9864553A>G	ENST00000380913.3	+	4	2695	c.2605A>G	c.(2605-2607)Agg>Ggg	p.R869G		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	869					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)				CCTGCCGCGGAGGCTCGGCAC	0.637													3	7					0	0	1	0	0	G	9864553	A	G	9864553	3	3	50	1	0	0	0	0	1	0	0	0	14349	295	11	4	2619	4	SHROOM2	23	9864553	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08		9864553	145406007	25	921											
CENPI	2491	broad.mit.edu	37	chrX	100357392	100357392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaaatattgcactcagtgGcaaatttggtatgttgagga	13	14	10	4	0	1	1	1	1	0	0	1	2	1	2	0	3	1	4	0	3	5	6			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chrX:100357392G>A	ENST00000372927.1	+	3	633	c.356G>A	c.(355-357)gGc>gAc	p.G119D	CENPI_ENST00000218507.5_Missense_Mutation_p.G119D|CENPI_ENST00000423383.1_Missense_Mutation_p.G119D|CENPI_ENST00000372926.1_Missense_Mutation_p.G119D	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	119					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						GCACTCAGTGGCAAATTTGGT	0.289													4	75					0	0	1	0	0	A	100357392	G	A	100357392	3	1	50	1	0	0	0	0	1	0	0	0	3255	1203	42	2	362	2	CENPI	23	100357392	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	90492839	100357392	54913168	26	922											
PANK4	55229	broad.mit.edu	37	chr1	2451274	2451274	+	Frame_Shift_Del	DEL	G	G	-																															gccgacttcccgaagctgctGgcgatgaggttcccgctcag																										TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:2451274delG	ENST00000378466.3	-	6	831	c.819delC	c.(817-819)gccfs	p.A273fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	273					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-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)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAGCTGCTGGCGATGAGGT	0.682													2	4	---	---	---	---						-	2451274	G	-	2451274	7	5	51	1	0	1	0	1	0	0	0	0	11466	1335	47	0	1558	0	PANK4	1	2451274	Frame_Shift_Del	DEL	G	TCGA-VD-A8KM-01A-11D-A39W-08		2451274	246799347	1	923											
PUM1	9698	broad.mit.edu	37	chr1	31437724	31437724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccagtcagggagtcaCggcgggagccactgccagtg	7	6	16	12	2	2	0	2	0	0	0	2	2	2	2	3	3	4	1	3	3	0	0			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:31437724C>T	ENST00000373747.3	-	14	2222	c.2123G>A	c.(2122-2124)cGt>cAt	p.R708H	PUM1_ENST00000373742.2_Missense_Mutation_p.R648H|PUM1_ENST00000426105.2_Missense_Mutation_p.R707H|PUM1_ENST00000373741.4_Missense_Mutation_p.R743H|PUM1_ENST00000440538.2_Missense_Mutation_p.R681H|PUM1_ENST00000423018.2_Missense_Mutation_p.R563H|PUM1_ENST00000257075.5_Missense_Mutation_p.R707H|PUM1_ENST00000424085.2_Missense_Mutation_p.R465H	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	707	Ser-rich.				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)		CAGGGAGTCACGGCGGGAGCC	0.483													6	56					0	0	1	0	0	T	31437724	C	T	31437724	3	4	51	1	0	0	0	0	1	0	0	0	12877	536	19	1	1482	1	PUM1	1	31437724	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	28986450	31437724	217812897	2	924											
MACF1	23499	broad.mit.edu	37	chr1	39796950	39796950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcaaagccatgcaaaagGgcctccttgaccaagacaca	14	7	7	13	0	2	2	1	1	1	1	3	2	3	2	4	1	2	1	4	1	4	2			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:39796950G>C	ENST00000564288.1	+	37	5467	c.4690G>C	c.(4690-4692)Ggc>Cgc	p.G1564R	MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G1569R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1569					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|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)			CATGCAAAAGGGCCTCCTTGA	0.453													5	26					0	0	1	0	0	C	39796950	G	C	39796950	3	2	51	1	0	0	0	0	1	0	0	0	9190	1232	43	5	4781	5	MACF1	1	39796950	Missense_Mutation	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08	8359226	39796950	209453671	3	925											
HHAT	55733	broad.mit.edu	37	chr1	210522378	210522378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcactaggcttccacttctAttccttctatgaagtttaca	9	16	4	12	0	3	1	1	1	2	0	5	1	5	1	2	1	1	2	2	1	5	9			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:210522378A>G	ENST00000367010.1	+	2	286	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	20					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)		TTCCACTTCTATTCCTTCTAT	0.493													15	42					0	0	1	0	0	G	210522378	A	G	210522378	3	3	51	1	0	0	0	0	1	0	0	0	7130	449	16	4	159	4	HHAT	1	210522378	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08	170725428	210522378	38728243	4	926											
DYSF	8291	broad.mit.edu	37	chr2	71755450	71755450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgatgccgtgatggacaaCgtgaaacagatctttggctt	11	10	12	8	3	1	3	0	2	1	1	1	6	1	4	1	2	3	1	1	2	2	2			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:71755450C>T	ENST00000258104.3	+	13	1480	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000409651.1_Silent_p.N433N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000410041.1_Silent_p.N433N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	401	C2 3.					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						TGATGGACAACGTGAAACAGA	0.537													4	12					0	0	1	0	0	T	71755450	C	T	71755450	2	4	51	1	0	0	0	0	0	0	0	1	4885	535	19	1		1	DYSF	2	71755450	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		71755450	171443923	5	927											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316089	73316089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtaggccaagctcccGctggctgaggacagggtgct	6	7	15	13	1	0	1	0	1	0	0	1	2	1	2	3	5	2	5	3	5	2	1			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:73316089G>A	ENST00000258098.6	-	2	1026	c.786C>T	c.(784-786)agC>agT	p.S262S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	262					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCAAGCTCCCGCTGGCTGAGG	0.647													8	43					0	0	1	0	0	A	73316089	G	A	73316089	2	1	51	1	0	0	0	0	0	0	0	1	12949	1078	38	1		1	RAB11FIP5	2	73316089	Silent	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08	1560639	73316089	169883284	6	928											
TTN	7273	broad.mit.edu	37	chr2	179583473	179583473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgccagcatcatttgtaaCgaggcaagaatagtctccac	13	9	8	11	1	2	1	1	0	1	1	3	2	2	1	2	1	3	3	2	1	4	3			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:179583473C>T	ENST00000589042.1	-	84	24678	c.24454G>A	c.(24454-24456)Gtt>Att	p.V8152I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7835I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7835	Ig-like 64.						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)			TCATTTGTAACGAGGCAAGAA	0.423													12	44					0	0	1	0	0	T	179583473	C	T	179583473	3	4	51	1	0	0	0	0	1	0	0	0	16797	536	19	1	80191	1	TTN	2	179583473	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	106267384	179583473	63615900	7	929											
ZNF197	10168	broad.mit.edu	37	chr3	44670659	44670659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaacaatgacaagagaaAatgtagcccacaatgctctg	19	6	7	9	0	1	2	0	1	1	1	1	3	1	2	1	0	4	2	1	0	8	1			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr3:44670659A>G	ENST00000396058.1	+	1	180	c.13A>G	c.(13-15)Aat>Gat	p.N5D	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D			O14709	ZN197_HUMAN	zinc finger protein 197	5					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)		GACAAGAGAAAATGTAGCCCA	0.458													16	43					0	0	1	0	0	G	44670659	A	G	44670659	3	3	51	1	0	0	0	0	1	0	0	0	17817	14	1	4	15	4	ZNF197	3	44670659	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		44670659	153351771	8	930											
MCHR2	84539	broad.mit.edu	37	chr6	100369077	100369077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagactaccaccagcacCagcaccatctttgtcaactt	14	9	4	14	0	2	1	1	0	1	1	2	1	2	1	4	0	4	2	4	0	4	4			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:100369077C>T	ENST00000281806.2	-	6	1076	c.762G>A	c.(760-762)ctG>ctA	p.L254L	MCHR2_ENST00000369212.2_Silent_p.L254L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	254						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCACCAGCACCAGCACCATCT	0.458													13	64					0	0	1	0	0	T	100369077	C	T	100369077	2	4	51	1	0	0	0	0	0	0	0	1	9433	581	21	3		3	MCHR2	6	100369077	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		100369077	70745990	9	931											
VGLL2	245806	broad.mit.edu	37	chr6	117589488	117589488	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagagaaagagcgcccAccagaggcagagtacatcaa	16	2	11	12	1	1	4	1	0	0	4	1	5	1	4	3	1	3	2	3	1	3	1			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	75					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577													8	99					0	0	1	0	0	C	117589488	A	C	117589488	2	2	51	1	0	0	0	0	0	0	0	1	17219	146	6	5		5	VGLL2	6	117589488	Silent	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08	17220411	117589488	53525579	10	932											
AKAP9	10142	broad.mit.edu	37	chr7	91659258	91659258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgatgcacagagaacaAtgtaccctggaagttgtgtg	13	10	11	7	0	1	2	0	1	1	1	1	4	1	3	1	1	3	3	1	1	5	2			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr7:91659258A>G	ENST00000359028.2	+	16	4459	c.4234A>G	c.(4234-4236)Atg>Gtg	p.M1412V	AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1412					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	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)			ACAGAGAACAATGTACCCTGG	0.284			T	BRAF	papillary thyroid								13	54					0	0	1	0	0	G	91659258	A	G	91659258	3	3	51	1	0	0	0	0	1	0	0	0	456	101	4	4	4256	4	AKAP9	7	91659258	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		91659258	67479405	11	933											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								16	50					0	0	1	0	0	G	80409488	T	G	80409488	3	3	51	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KM-01A-11D-A39W-08		80409488	60803943	12	934											
CDHR5	53841	broad.mit.edu	37	chr11	618626	618626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggtgctcttgctgagggGcatcggctgagaggttcctg	4	11	18	8	1	1	2	0	2	1	1	3	3	2	2	1	6	2	5	1	6	0	2	rs143032816	byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr11:618626G>A	ENST00000358353.3	-	14	2255	c.1933C>T	c.(1933-1935)Ccc>Tcc	p.P645S	CDHR5_ENST00000397542.2_Missense_Mutation_p.P645S|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	645	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTGCTGAGGGGCATCGGCTGA	0.627													3	63					0	0	1	0	0	A	618626	G	A	618626	3	1	51	1	0	0	0	0	1	0	0	0	3144	1203	42	2	616	2	CDHR5	11	618626	Missense_Mutation	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		618626	134387890	13	935											
ITPR2	3709	broad.mit.edu	37	chr12	26943118	26943118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgggagggttggcaagGtccccggcctctgggtgcac	4	10	16	11	1	2	0	0	0	2	0	3	1	3	1	3	6	1	3	3	6	1	3			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr12:26943118G>A	ENST00000381340.3	-	2	551	c.135C>T	c.(133-135)gaC>gaT	p.D45D	ITPR2_ENST00000242737.5_Silent_p.D45D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	45					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)					GGTTGGCAAGGTCCCCGGCCT	0.393													15	53					0	0	1	0	0	A	26943118	G	A	26943118	2	1	51	1	0	0	0	0	0	0	0	1	7965	1252	44	3		3	ITPR2	12	26943118	Silent	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		26943118	106908777	14	936											
WDR25	79446	broad.mit.edu	37	chr14	100996252	100996252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgatgtacagcttccgCacagccagccgagcatgcac	9	7	10	15	2	0	1	0	1	0	0	2	2	2	1	4	0	6	5	4	0	1	2	rs148470180	byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr14:100996252C>T	ENST00000335290.6	+	7	1735	c.1509C>T	c.(1507-1509)cgC>cgT	p.R503R	WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R|WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	503										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACAGCTTCCGCACAGCCAGCC	0.677													13	52					0	0	1	0	0	T	100996252	C	T	100996252	2	4	51	1	0	0	0	0	0	0	0	1	17342	697	25	2		2	WDR25	14	100996252	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		100996252	6353288	15	937											
DTNA	1837	broad.mit.edu	37	chr18	32459684	32459684	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccatgcgtggcgacatGtgagtatcttccgcttggaa	9	11	12	9	3	1	1	0	1	1	0	2	3	2	2	2	2	2	3	2	2	3	4			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr18:32459684G>A	ENST00000283365.9	+	19	2261		c.e19+1		DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000399113.3_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000444659.1_Splice_Site	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						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						GTGGCGACATGTGAGTATCTT	0.423													9	33					0	0	1	0	0	A	32459684	G	A	32459684	5	1	51	1	0	0	0	0	0	0	1	0	4814	1391	48	3	2246	3	DTNA	18	32459684	Splice_Site	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		32459684	45617564	16	938											
CACNA1A	773	broad.mit.edu	37	chr19	13322958	13322958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcatggaggcagcccggcCctggccttccatggggaggt	5	6	18	12	1	0	0	0	0	0	0	1	2	1	2	4	8	1	2	4	8	0	1			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:13322958C>G	ENST00000360228.5	-	43	6261	c.6262G>C	c.(6262-6264)Ggc>Cgc	p.G2088R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2089					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)	GCAGCCCGGCCCTGGCCTTCC	0.647													3	47					0	0	1	0	0	G	13322958	C	G	13322958	3	3	51	1	0	0	0	0	1	0	0	0	2556	623	22	5	1278	5	CACNA1A	19	13322958	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		13322958	45806025	17	939											
NWD1	284434	broad.mit.edu	37	chr19	16861023	16861023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcacacagatttgctcTgggccagcctcccagagtgt	7	9	12	13	1	1	2	0	0	1	2	2	2	2	2	3	2	3	2	3	2	0	1			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:16861023T>A	ENST00000524140.2	+	6	1988	c.1570T>A	c.(1570-1572)Tgg>Agg	p.W524R	NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R|NWD1_ENST00000552788.1_Missense_Mutation_p.W524R|NWD1_ENST00000523826.1_Missense_Mutation_p.W318R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	524	NACHT.						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						AGATTTGCTCTGGGCCAGCCT	0.637													3	40					0	0	1	0	0	A	16861023	T	A	16861023	3	1	51	1	0	0	0	0	1	0	0	0	10829	1580	55	5	1171	5	NWD1	19	16861023	Missense_Mutation	SNP	T	TCGA-VD-A8KM-01A-11D-A39W-08	3538065	16861023	42267960	18	940											
GDAP1L1	78997	broad.mit.edu	37	chr20	42907913	42907913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatgggctactttgcctaCtggtacctcaagaaaaaata	13	10	10	8	0	1	1	1	0	0	1	1	2	1	2	2	3	4	2	2	3	8	5			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:42907913C>T	ENST00000342560.5	+	6	1165	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	GDAP1L1_ENST00000537864.1_Silent_p.Y167Y	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	359										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACTTTGCCTACTGGTACCTCA	0.562													16	76					0	0	1	0	0	T	42907913	C	T	42907913	2	4	51	1	0	0	0	0	0	0	0	1	6349	576	20	3		3	GDAP1L1	20	42907913	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		42907913	20117607	19	941											
CLCN5	1184	broad.mit.edu	37	chrX	49845342	49845342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcttgtcaaggtgtttgCgccttatgcctgtggctctg	4	16	11	10	1	3	0	1	0	2	0	4	0	3	0	2	2	2	2	2	2	2	3			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:49845342C>T	ENST00000376088.3	+	8	1336	c.695C>T	c.(694-696)gCg>gTg	p.A232V	CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000307367.2_Missense_Mutation_p.A162V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AAGGTGTTTGCGCCTTATGCC	0.413													3	54					0	0	1	0	0	T	49845342	C	T	49845342	3	4	51	1	0	0	0	0	1	0	0	0	3489	768	27	1	717	1	CLCN5	23	49845342	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		49845342	105425218	20	942											
RPS6KA6	27330	broad.mit.edu	37	chrX	83374915	83374915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaacaccatatgaccacCaatcagcactctgggaatgg	15	7	8	11	0	2	2	1	1	1	1	2	3	2	3	3	2	2	1	3	2	5	2			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:83374915C>G	ENST00000262752.2	-	9	774	c.767G>C	c.(766-768)tGg>tCg	p.W256S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	256	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATATGACCACCAATCAGCACT	0.338													24	32					0	0	1	0	0	G	83374915	C	G	83374915	3	3	51	1	0	0	0	0	1	0	0	0	13707	595	21	5	1526	5	RPS6KA6	23	83374915	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	33529573	83374915	71895645	21	943											
LRRC42	115353	broad.mit.edu	37	chr1	54426038	54426038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttccctagtgtaactcaGctccacctgaaggataattg	10	13	8	10	0	1	1	1	1	0	0	3	2	3	2	3	1	2	3	3	1	4	5			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:54426038G>A	ENST00000371370.3	+	5	1136	c.615G>A	c.(613-615)caG>caA	p.Q205Q	LRRC42_ENST00000319223.4_Silent_p.Q205Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	205										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GTGTAACTCAGCTCCACCTGA	0.363													30	36					0	0	1	0	0	A	54426038	G	A	54426038	2	1	52	1	0	0	0	0	0	0	0	1	9045	962	34	2		2	LRRC42	1	54426038	Silent	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		54426038	194824583	1	944											
IVL	3713	broad.mit.edu	37	chr1	152883896	152883896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagaaggggcagctggaGcagcctgtgtttgccccagc	8	6	15	12	0	0	1	0	0	0	1	0	2	0	2	3	3	6	5	3	3	1	1			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:152883896G>C	ENST00000368764.3	+	2	1687	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D	IVL_ENST00000392667.2_Missense_Mutation_p.E395D			P07476	INVO_HUMAN	involucrin	541	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcagctggagcagcCTGTGT	0.587													7	5					0	0	1	0	0	C	152883896	G	C	152883896	3	2	52	1	0	0	0	0	1	0	0	0	7973	962	34	5	1625	5	IVL	1	152883896	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08	98457858	152883896	96366725	2	945											
FAM71A	149647	broad.mit.edu	37	chr1	212798742	212798742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactaatttacctcttgCggccacccatggagagtaac	14	9	7	11	1	1	1	0	0	1	1	1	2	1	1	3	2	4	1	3	2	5	5			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:212798742C>T	ENST00000294829.3	+	1	954	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TTACCTCTTGCGGCCACCCAT	0.517													61	83					0	0	1	0	0	T	212798742	C	T	212798742	3	4	52	1	0	0	0	0	1	0	0	0	5642	759	27	1	525	1	FAM71A	1	212798742	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	59914846	212798742	36451879	3	946											
OR2L2	26246	broad.mit.edu	37	chr1	248201776	248201776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcagctctccctcattgaCctaaattacatctccaccat	11	12	3	15	0	4	1	2	1	2	0	6	1	4	1	4	0	2	1	4	0	3	3			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:248201776C>G	ENST00000366479.2	+	1	303	c.207C>G	c.(205-207)gaC>gaG	p.D69E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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)			CCCTCATTGACCTAAATTACA	0.388													34	78					0	0	1	0	0	G	248201776	C	G	248201776	3	3	52	1	0	0	0	0	1	0	0	0	11055	506	18	5	209	5	OR2L2	1	248201776	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	35403034	248201776	1048845	4	947											
MGAT5	4249	broad.mit.edu	37	chr2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttaatcatgcaaattatgCccaatcgaaaggccacaaga	17	9	6	9	1	1	1	1	0	0	1	2	2	1	1	2	1	2	1	2	1	6	3			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413													3	59					0	0	1	0	0	T	135107438	C	T	135107438	3	4	52	1	0	0	0	0	1	0	0	0	9598	739	26	2	1209	2	MGAT5	2	135107438	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		135107438	108091935	5	948											
OBSL1	23363	broad.mit.edu	37	chr2	220432798	220432798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactgtgacgttggccaCggtgcgcacccggccccgca	5	8	13	15	5	0	2	0	2	0	0	0	2	0	2	4	3	1	3	4	3	0	2			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:220432798C>T	ENST00000404537.1	-	2	1317	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	OBSL1_ENST00000603926.1_Missense_Mutation_p.V421M|OBSL1_ENST00000289656.3_Missense_Mutation_p.V8M|OBSL1_ENST00000373876.1_Missense_Mutation_p.V421M|OBSL1_ENST00000373873.4_Missense_Mutation_p.V421M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V421M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	421	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGTTGGCCACGGTGCGCACC	0.622											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	30	49					0	0	1	0	0	T	220432798	C	T	220432798	3	4	52	1	0	0	0	0	1	0	0	0	10861	536	19	1	4661	1	OBSL1	2	220432798	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	85325360	220432798	22766575	6	949											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								27	48					0	0	1	0	0	G	80409488	T	G	80409488	3	3	52	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KN-01A-11D-A39W-08		80409488	60803943	7	950											
RPH3A	22895	broad.mit.edu	37	chr12	113285537	113285537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtccaccccggtggtcaGcctgacaggcagaggaagca	9	5	13	14	2	1	2	1	1	0	1	3	3	3	3	5	4	2	2	5	4	1	0			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr12:113285537G>A	ENST00000389385.4	+	5	617	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Silent_p.Q40Q|RPH3A_ENST00000551052.1_Silent_p.Q36Q|RPH3A_ENST00000415485.3_Silent_p.Q40Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Silent_p.Q40Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	40					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGTGGTCAGCCTGACAGGC	0.532													4	54					0	0	1	0	0	A	113285537	G	A	113285537	2	1	52	1	0	0	0	0	0	0	0	1	13603	962	34	2		2	RPH3A	12	113285537	Silent	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		113285537	20566358	8	951											
UBL3	5412	broad.mit.edu	37	chr13	30341440	30341440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcttctcacgattcctCtgacctagggaaaacgaaga	12	9	8	12	2	3	2	1	1	3	1	5	5	4	3	3	1	1	0	3	1	4	3			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr13:30341440C>A	ENST00000380680.4	-	5	1451	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	102						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		CACGATTCCTCTGACCTAGGG	0.418													3	38					0.004672	0.004672	1	1	0	A	30341440	C	A	30341440	3	1	52	1	0	0	0	0	1	0	0	0	16947	912	32	5	51	5	UBL3	13	30341440	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		30341440	84828438	9	952											
OR4E2	26686	broad.mit.edu	37	chr14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagacaagtttttttcaCgaaatcatatacataatggg	15	12	8	6	1	2	1	2	0	0	1	2	3	2	1	0	1	1	2	0	1	5	6			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393													5	13					0	0	1	0	0	T	22134222	C	T	22134222	3	4	52	1	0	0	0	0	1	0	0	0	11108	536	19	1	928	1	OR4E2	14	22134222	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		22134222	85215318	10	953											
CEP152	22995	broad.mit.edu	37	chr15	49064766	49064766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctttgaggtcattttgtAactgagacaccagatgacgc	11	12	10	8	1	2	4	1	3	1	2	2	5	2	4	1	1	1	1	1	1	1	4			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr15:49064766A>G	ENST00000380950.2	-	13	1887	c.1700T>C	c.(1699-1701)tTa>tCa	p.L567S	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.L567S|CEP152_ENST00000325747.5_Missense_Mutation_p.L474S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	567					centrosome duplication|G2/M transition of mitotic cell cycle	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)		GTCATTTTGTAACTGAGACAC	0.388													3	97					0	0	1	0	0	G	49064766	A	G	49064766	3	3	52	1	0	0	0	0	1	0	0	0	3270	372	13	4	3320	4	CEP152	15	49064766	Missense_Mutation	SNP	A	TCGA-VD-A8KN-01A-11D-A39W-08		49064766	53466626	11	954											
CA7	766	broad.mit.edu	37	chr16	66887373	66887373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagccactgaagggccGcgtggtaaaggcctccttcc	9	6	11	15	2	0	1	0	1	0	0	2	1	2	1	6	3	1	1	6	3	3	2			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:66887373G>C	ENST00000394069.3	+	7	1030	c.599G>C	c.(598-600)cGc>cCc	p.R200P	CA7_ENST00000338437.2_Missense_Mutation_p.R256P	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	256					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGAAGGGCCGCGTGGTAAAG	0.592													3	37					0	0	1	0	0	C	66887373	G	C	66887373	3	2	52	1	0	0	0	0	1	0	0	0	2540	1087	38	5	793	5	CA7	16	66887373	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		66887373	23467380	12	955											
MINK1	50488	broad.mit.edu	37	chr17	4798399	4798399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggagagggcactcggctcGaccagctgcagtacgacgtg	8	6	16	11	4	0	1	0	0	0	1	2	4	0	1	1	3	3	5	1	3	1	1			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:4798399G>A	ENST00000355280.6	+	25	3143	c.2947G>A	c.(2947-2949)Gac>Aac	p.D983N	MINK1_ENST00000347992.7_Missense_Mutation_p.D954N|MINK1_ENST00000453408.3_Missense_Mutation_p.D963N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	983	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CACTCGGCTCGACCAGCTGCA	0.602													47	70					0	0	1	0	0	A	4798399	G	A	4798399	3	1	52	1	0	0	0	0	1	0	0	0	9635	1058	37	1	2812	1	MINK1	17	4798399	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		4798399	76396811	13	956											
MYO15A	51168	broad.mit.edu	37	chr17	18047195	18047195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccacaggcctcgggctgGcccaggtgcctcaggtggcc	4	8	14	15	1	1	0	1	0	0	0	3	0	2	0	5	6	1	1	5	6	0	1			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:18047195G>T	ENST00000205890.5	+	28	6396	c.6058G>T	c.(6058-6060)Gcc>Tcc	p.A2020S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2020	Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP 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)					CCTCGGGCTGGCCCAGGTGCC	0.642													11	3					3.07112e-06	3.19908e-06	1	1	0	T	18047195	G	T	18047195	3	4	52	1	0	0	0	0	1	0	0	0	10111	1203	42	5	6160	5	MYO15A	17	18047195	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08	13248796	18047195	63148015	14	957											
ABCD1	215	broad.mit.edu	37	chrX	153008790	153008790	+	Frame_Shift_Del	DEL	C	C	-																															tgctctccatcacccaccggCcctccctgtggtaggtgccc																										TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chrX:153008790delC	ENST00000218104.3	+	9	2380	c.1981delC	c.(1981-1983)cccfs	p.P661fs	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	661	ABC transporter.				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)					CACCCACCGGCCCTCCCTGTG	0.692													2	4	---	---	---	---						-	153008790	C	-	153008790	7	5	52	1	0	1	0	1	0	0	0	0	60	739	26	0	2015	0	ABCD1	23	153008790	Frame_Shift_Del	DEL	C	TCGA-VD-A8KN-01A-11D-A39W-08		153008790	2261770	15	958											
TET3	200424	broad.mit.edu	37	chr2	74275098	74275099	+	Frame_Shift_Del	DEL	CC	CC	-																															ccctactcaggaaatgaggtCccccagccccatgacagcct																										TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr2:74275098_74275099delCC	ENST00000409262.3	+	1	1649_1650	c.1649_1650delCC	c.(1648-1650)tccfs	p.S550fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	550							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						GAAATGAGGTCCCCCAGCCCCA	0.614													30	30	---	---	---	---						-	74275099	CC	-	74275098	7	5	53	1	0	1	0	1	0	0	0	0	15830	855	30	0	1651	0	TET3	2	74275098	Frame_Shift_Del	DEL	CC	TCGA-VD-A8KO-01A-11D-A39W-08		74275098	168924275	1	959											
FBLN2	2199	broad.mit.edu	37	chr3	13672941	13672941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctacaccatgacggccaaCgggaggtcctgcaagggtga	10	5	15	11	2	0	2	0	2	0	0	1	3	1	3	3	5	3	2	3	5	3	1			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr3:13672941C>T	ENST00000404922.3	+	16	3317	c.3198C>T	c.(3196-3198)aaC>aaT	p.N1066N	FBLN2_ENST00000492059.1_Silent_p.N1066N|FBLN2_ENST00000295760.7_Silent_p.N1019N|FBLN2_ENST00000535798.1_Silent_p.N1045N	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1033	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGACGGCCAACGGGAGGTCCT	0.642													3	5					0	0	1	0	0	T	13672941	C	T	13672941	2	4	53	1	0	0	0	0	0	0	0	1	5732	535	19	1		1	FBLN2	3	13672941	Silent	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		13672941	184349489	2	960											
OR2B3	442184	broad.mit.edu	37	chr6	29054153	29054153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcatatctttatttctaagGctgtagatgagggagttcaa	11	16	9	5	0	4	2	2	1	2	1	4	3	4	3	0	2	0	3	0	2	5	8			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr6:29054153G>T	ENST00000377173.2	-	1	937	c.873C>A	c.(871-873)agC>agA	p.S291R		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TATTTCTAAGGCTGTAGATGA	0.403													11	46					4.3838e-07	4.58306e-07	1	1	0	T	29054153	G	T	29054153	3	4	53	1	0	0	0	0	1	0	0	0	11038	1194	42	5	72	5	OR2B3	6	29054153	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		29054153	142060914	3	961											
ACTB	60	broad.mit.edu	37	chr7	5568323	5568323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatagcaacgtacatggCtggggtgttgaaggtctcaa	10	10	14	7	1	1	1	1	1	1	0	2	2	1	2	0	5	3	4	0	5	5	3			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr7:5568323C>T	ENST00000331789.5	-	4	582	c.391G>A	c.(391-393)Gcc>Acc	p.A131T		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	131					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|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)		ACGTACATGGCTGGGGTGTTG	0.587													38	38					0	0	1	0	0	T	5568323	C	T	5568323	3	4	53	1	0	0	0	0	1	0	0	0	193	797	28	2	748	2	ACTB	7	5568323	Missense_Mutation	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		5568323	153570340	4	962											
TRAM1	23471	broad.mit.edu	37	chr8	71520412	71520412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcactggggggctcttgGtgcttttcttgcgaatcgcc	4	13	13	11	2	3	0	1	0	2	0	4	1	3	0	1	4	3	3	1	4	1	4			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr8:71520412G>C	ENST00000262213.2	-	1	192	c.23C>G	c.(22-24)aCc>aGc	p.T8S	TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	8					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGGCTCTTGGTGCTTTTCTT	0.652													37	31					0	0	1	0	0	C	71520412	G	C	71520412	3	2	53	1	0	0	0	0	1	0	0	0	16512	1261	44	5	1145	5	TRAM1	8	71520412	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		71520412	74843610	5	963											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								36	45					0	0	1	0	0	A	80409488	T	A	80409488	3	1	53	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KO-01A-11D-A39W-08		80409488	60803943	6	964											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	9	0	10	22	2	0	1	0	0	0	1	0	2	0	2	8	2	4	0	8	2	0	0	rs138454470	byFrequency	TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		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)		CAGCCCCCACGGCCGGAGCCA	0.687													4	39					0	0	1	0	0	A	1619378	G	A	1619378	3	1	53	1	0	0	0	0	1	0	0	0	8601	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		1619378	133387138	7	965											
MYBPC3	4607	broad.mit.edu	37	chr11	47358992	47358992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcctggacatgccgatgGcgttgaccgcgtagacgcgc	6	7	16	12	6	0	2	0	1	0	1	0	4	0	3	3	3	1	2	3	3	1	2			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:47358992G>T	ENST00000399249.2	-	24	2606	c.2552C>A	c.(2551-2553)gCc>gAc	p.A851D	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A850D|MYBPC3_ENST00000545968.1_Missense_Mutation_p.A851D			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	850	Fibronectin type-III 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	actin binding|ATPase activator activity|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)		CATGCCGATGGCGTTGACCGC	0.637													14	31					7.05477e-17	7.72665e-17	1	1	0	T	47358992	G	T	47358992	3	4	53	1	0	0	0	0	1	0	0	0	10061	1203	42	5	1312	5	MYBPC3	11	47358992	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08	45739614	47358992	87647524	8	966											
ARAP1	116985	broad.mit.edu	37	chr11	72408531	72408531	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgccctgtatgtacagtgtCctgggccagggacagtcagt	7	10	13	11	1	1	0	1	0	0	0	3	1	2	1	3	2	1	2	3	2	2	2			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:72408531C>T	ENST00000359373.5	-	21	3641	c.2790G>A	c.(2788-2790)agG>agA	p.R930R	ARAP1_ENST00000426523.1_Splice_Site_p.R685R|ARAP1_ENST00000334211.8_Splice_Site_p.R685R|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Splice_Site_p.R930R|ARAP1_ENST00000393609.3_Splice_Site_p.R930R|ARAP1_ENST00000429686.1_Splice_Site_p.R624R|ARAP1_ENST00000393605.3_Splice_Site_p.R690R			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	930					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	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTACAGTGTCCTGGGCCAGG	0.652													17	25					0	0	1	0	0	T	72408531	C	T	72408531	5	4	53	1	0	0	0	0	0	0	1	0	835	869	30	3	1622	3	ARAP1	11	72408531	Splice_Site	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08	25049539	72408531	62597985	9	967											
C15orf54	400360	broad.mit.edu	37	chr15	39544396	39544396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccccagagggctgagccGcaaagaatttgcagagcctt	12	6	12	11	1	0	5	0	1	0	4	0	5	0	5	4	1	3	3	4	1	2	2			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468													4	221					0	0	1	0	0	A	39544396	G	A	39544396	2	1	53	1	0	0	0	0	0	0	0	1	1808	1074	38	1		1	C15orf54	15	39544396	Silent	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		39544396	62986996	10	968											
RAI1	10743	broad.mit.edu	37	chr17	17697038	17697038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctccagcctggcccCggggcagcgggtccagaatc	6	5	14	16	2	0	1	0	0	0	1	3	1	2	1	6	4	4	2	6	4	1	0			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr17:17697038C>A	ENST00000353383.1	+	3	1245	c.776C>A	c.(775-777)cCg>cAg	p.P259Q	RAI1_ENST00000261641.6_Missense_Mutation_p.P259Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	259	Gln-rich.					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)		AGCCTGGCCCCGGGGCAGCGG	0.667													3	47					6.4e-05	6.4e-05	1	1	0	A	17697038	C	A	17697038	3	1	53	1	0	0	0	0	1	0	0	0	13059	652	23	5	778	5	RAI1	17	17697038	Missense_Mutation	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		17697038	63498172	11	969											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate								4	261					0	0	1	0	0	C	76993313	T	C	76993313	3	2	53	1	0	0	0	0	1	0	0	0	2635	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-VD-A8KO-01A-11D-A39W-08	59296275	76993313	4201897	12	970											
ZNF460	10794	broad.mit.edu	37	chr19	57803250	57803250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcatactggagagaagccGtatgtatgcatccaatgtgg	12	11	11	7	1	1	1	1	0	0	1	2	3	2	2	2	2	3	3	2	2	5	4	rs141075189		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr19:57803250G>A	ENST00000360338.3	+	3	1663	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	ZNF460_ENST00000537645.1_Silent_p.P406P	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGAAGCCGTATGTATGCA	0.493													3	55					0	0	1	0	0	A	57803250	G	A	57803250	2	1	53	1	0	0	0	0	0	0	0	1	17981	1132	40	1		1	ZNF460	19	57803250	Silent	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		57803250	1325733	13	971											
EIF1AX	1964	broad.mit.edu	37	chrX	20156735	20156737	+	In_Frame_Del	DEL	CTT	CTT	-																															cctgcgtctgtttttacctcCtttacctgatggtttaaaaa																										TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chrX:20156735_20156737delCTT	ENST00000379607.5	-	2	223_225	c.20_22delAAG	c.(19-24)aaagga>aga	p.7_8KG>R	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	7						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGATGG	0.305													35	2	---	---	---	---						-	20156737	CTT	-	20156735	7	5	53	1	0	1	0	1	0	0	0	0	5018	690	24	0	436	0	EIF1AX	23	20156735	In_Frame_Del	DEL	CTT	TCGA-VD-A8KO-01A-11D-A39W-08		20156735	135113825	14	972											
NADK	65220	broad.mit.edu	37	chr1	1688592	1688594	+	In_Frame_Del	DEL	AGG	AGG	-																															cccaactccatgtgcaccccAggcccccttcccccctgccc																										TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:1688592_1688594delAGG	ENST00000344463.4	-	6	952_954	c.731_733delCCT	c.(730-735)gcctgg>ggg	p.244_245AW>G	NADK_ENST00000342348.5_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.244_245AW>G			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|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)		TGTGCACCCCAGGCCCCCTTCCC	0.626													2	4	---	---	---	---						-	1688594	AGG	-	1688592	7	5	54	1	0	1	0	1	0	0	0	0	10185	203	7	0		0	NADK	1	1688592	In_Frame_Del	DEL	AGG	TCGA-VD-AA8M-01A-11D-A39W-08		1688592	247562029	1	973											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058775	33058775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttacagttatcttggaCttcgtatattctggcaaact	10	17	6	8	1	2	0	0	0	2	0	3	1	2	1	0	2	2	3	0	2	5	8			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:33058775C>G	ENST00000373510.4	+	3	472	c.243C>G	c.(241-243)gaC>gaG	p.D81E	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.D81E	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TTATCTTGGACTTCGTATATT	0.413													9	105					0	0	1	0	0	G	33058775	C	G	33058775	3	3	54	1	0	0	0	0	1	0	0	0	17615	564	20	5	245	5	ZBTB8A	1	33058775	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	31370183	33058775	216191846	2	974											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																										TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													8	44	---	---	---	---						-	46184898	AC	-	46184897	7	5	54	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-VD-AA8M-01A-11D-A39W-08	13126122	46184897	203065724	3	975											
NPR1	4881	broad.mit.edu	37	chr1	153658320	153658320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctgctaaccacagagggCcagttccaagtctttgccaa	10	9	8	14	0	1	1	0	0	1	1	3	1	3	1	5	1	3	2	5	1	3	3			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:153658320C>T	ENST00000368680.3	+	9	2116	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	548	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)	CCACAGAGGGCCAGTTCCAAG	0.562													27	42					0	0	1	0	0	T	153658320	C	T	153658320	2	4	54	1	0	0	0	0	0	0	0	1	10642	726	26	2		2	NPR1	1	153658320	Silent	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	107473423	153658320	95592301	4	976											
SLC40A1	30061	broad.mit.edu	37	chr2	190428516	190428516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggagaaacggacaagTccagggggcttccaggcatg	14	4	14	9	1	0	1	0	0	0	1	2	3	2	2	2	5	1	2	2	5	4	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr2:190428516T>C	ENST00000261024.2	-	7	1622	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	399					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)			AACGGACAAGTCCAGGGGGCT	0.428													23	24					0	0	1	0	0	C	190428516	T	C	190428516	3	2	54	1	0	0	0	0	1	0	0	0	14683	1667	58	4	527	4	SLC40A1	2	190428516	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		190428516	52770857	5	977											
TGM4	7047	broad.mit.edu	37	chr3	44952846	44952846	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctttgactgacgtcAagttctctttggaaagcctg	8	13	8	12	1	2	2	1	2	1	0	4	3	3	3	3	1	1	1	3	1	2	3			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr3:44952846A>C	ENST00000296125.4	+	13	1929	c.1861A>C	c.(1861-1863)Aag>Cag	p.K621Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	621					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACTGACGTCAAGTTCTCTTT	0.478													41	55					0	0	1	0	0	C	44952846	A	C	44952846	3	2	54	1	0	0	0	0	1	0	0	0	15892	131	5	5	1911	5	TGM4	3	44952846	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		44952846	153069584	6	978											
PDIA5	10954	broad.mit.edu	37	chr3	122821618	122821618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgcatttcatactgAatataaccgagctgtgacat	12	12	10	7	1	1	2	1	2	0	0	1	4	1	3	1	2	4	2	1	2	4	4			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr3:122821618A>G	ENST00000316218.7	+	5	457	c.362A>G	c.(361-363)gAa>gGa	p.E121G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	121					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)		TTTCATACTGAATATAACCGA	0.403													17	22					0	0	1	0	0	G	122821618	A	G	122821618	3	3	54	1	0	0	0	0	1	0	0	0	11718	246	9	4	380	4	PDIA5	3	122821618	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08	77868772	122821618	75200812	7	979											
SLIT2	9353	broad.mit.edu	37	chr4	20543158	20543158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagaagagaattgtcacgGgaaatcctagatgtcaaaaa	19	7	10	5	1	2	3	2	0	0	3	3	6	3	4	1	1	0	0	1	1	7	2			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr4:20543158G>A	ENST00000504154.1	+	20	2311	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	SLIT2_ENST00000503837.1_Missense_Mutation_p.G683R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G679R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G691R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	687	LRRCT 3.				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|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout 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						AATTGTCACGGGAAATCCTAG	0.438													3	52					0	0	1	0	0	A	20543158	G	A	20543158	3	1	54	1	0	0	0	0	1	0	0	0	14794	1233	43	3	2137	3	SLIT2	4	20543158	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		20543158	170611118	8	980											
SEL1L3	23231	broad.mit.edu	37	chr4	25819797	25819797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaatgcctggaacaaGctggggtgtttgtctttcag	8	12	12	9	0	2	0	1	0	1	0	3	1	3	1	2	3	4	3	2	3	3	2			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr4:25819797G>C	ENST00000399878.3	-	9	1649	c.1527C>G	c.(1525-1527)agC>agG	p.S509R	SEL1L3_ENST00000502949.1_Missense_Mutation_p.S356R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S474R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	509						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCTGGAACAAGCTGGGGTGTT	0.537													5	5					0	0	1	0	0	C	25819797	G	C	25819797	3	2	54	1	0	0	0	0	1	0	0	0	14066	962	34	5	1935	5	SEL1L3	4	25819797	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	5276639	25819797	165334479	9	981											
WDR41	55255	broad.mit.edu	37	chr5	76788029	76788029	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttctcggcctcccccgAtcagccatcgcaacatccgg	6	7	10	18	5	2	0	1	0	1	0	6	1	4	0	5	3	2	2	5	3	1	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr5:76788029A>C	ENST00000296679.4	-	1	392	c.17T>G	c.(16-18)aTc>aGc	p.I6S	WDR41_ENST00000507029.1_Missense_Mutation_p.I6S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	6										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GCCTCCCCCGATCAGCCATCG	0.706													14	16					0	0	1	0	0	C	76788029	A	C	76788029	3	2	54	1	0	0	0	0	1	0	0	0	17354	333	12	5	1414	5	WDR41	5	76788029	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		76788029	104127231	10	982											
LRRC16A	55604	broad.mit.edu	37	chr6	25500413	25500413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcactgttattgggcctgGcttgtaatcataacttgaaa	11	13	10	7	0	1	1	1	1	0	0	1	2	1	1	1	2	2	4	1	2	4	6			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr6:25500413G>C	ENST00000329474.6	+	17	1713	c.1345G>C	c.(1345-1347)Gct>Cct	p.A449P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	449					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTGGGCCTGGCTTGTAATCA	0.428													13	12					0	0	1	0	0	C	25500413	G	C	25500413	3	2	54	1	0	0	0	0	1	0	0	0	9016	1203	42	5	1411	5	LRRC16A	6	25500413	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		25500413	145614654	11	983											
ZNF680	340252	broad.mit.edu	37	chr7	64004737	64004737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactttcctatataaattcCgttgtgcagtgtccaggcat	9	15	7	10	1	1	0	1	0	0	0	4	0	4	0	3	1	1	3	3	1	4	6			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr7:64004737C>T	ENST00000309683.6	-	2	255	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	ZNF680_ENST00000447137.2_Missense_Mutation_p.R35Q|ZNF680_ENST00000476563.1_Intron	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATATAAATTCCGTTGTGCAGT	0.438													5	107					0	0	1	0	0	T	64004737	C	T	64004737	3	4	54	1	0	0	0	0	1	0	0	0	18143	652	23	1	1623	1	ZNF680	7	64004737	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		64004737	95133926	12	984											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773633	145773634	+	Frame_Shift_Del	DEL	GG	GG	-																															gagctgctccctgggagctcGgccctcttcaggaagggtga																										TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr8:145773633_145773634delGG	ENST00000276826.5	-	4	1037_1038	c.836_837delCC	c.(835-837)gccfs	p.A279fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.A279fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	279	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGGGAGCTCGGCCCTCTTCAG	0.693													3	5	---	---	---	---						-	145773634	GG	-	145773633	7	5	54	1	0	1	0	1	0	0	0	0	881	1103	39	0	2539	0	ARHGAP39	8	145773633	Frame_Shift_Del	DEL	GG	TCGA-VD-AA8M-01A-11D-A39W-08		145773633	590389	13	985											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								38	41					0	0	1	0	0	G	80409488	T	G	80409488	3	3	54	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		80409488	60803943	14	986											
OGN	4969	broad.mit.edu	37	chr9	95147973	95147973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctttcccaggacgattgGattgccctccaggcgtatct	7	12	10	12	2	1	0	0	0	1	0	3	3	3	2	3	3	2	2	3	3	1	4			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr9:95147973G>T	ENST00000262551.4	-	7	1246	c.826C>A	c.(826-828)Cca>Aca	p.P276T	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.P276T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	276						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGGACGATTGGATTGCCCTCC	0.403													5	68					0.000602214	0.000602214	1	1	0	T	95147973	G	T	95147973	3	4	54	1	0	0	0	0	1	0	0	0	10894	1174	41	5	74	5	OGN	9	95147973	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	14738485	95147973	46065458	15	987											
STIP1	10963	broad.mit.edu	37	chr11	63971545	63971545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacacttaaagaatcctgtaAtagcacagaagatccagaag	18	7	8	8	0	0	4	0	0	0	4	2	5	2	4	2	0	1	2	2	0	7	3			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr11:63971545A>G	ENST00000358794.5	+	14	2273	c.1720A>G	c.(1720-1722)Ata>Gta	p.I574V	STIP1_ENST00000305218.4_Missense_Mutation_p.I527V|STIP1_ENST00000538945.1_Missense_Mutation_p.I503V	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	527					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAATCCTGTAATAGCACAGAA	0.463													32	53					0	0	1	0	0	G	63971545	A	G	63971545	3	3	54	1	0	0	0	0	1	0	0	0	15341	101	4	4	1633	4	STIP1	11	63971545	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		63971545	71034971	16	988											
KRT83	3889	broad.mit.edu	37	chr12	52710711	52710711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcatactgtgccttgaTctcggcaacgatgcagtcca	9	11	9	12	2	3	1	2	1	1	0	5	2	4	1	2	1	4	2	2	1	2	2			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr12:52710711T>C	ENST00000293670.3	-	5	909	c.847A>G	c.(847-849)Atc>Gtc	p.I283V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	283	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGCCTTGATCTCGGCAACG	0.582													8	53					0	0	1	0	0	C	52710711	T	C	52710711	3	2	54	1	0	0	0	0	1	0	0	0	8540	1435	50	4	654	4	KRT83	12	52710711	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		52710711	81141184	17	989											
MAP3K12	7786	broad.mit.edu	37	chr12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcatggtccagacagggcGcaggcagccaaagaggccct	12	4	13	12	1	1	2	1	0	0	2	2	2	2	2	3	4	1	2	3	4	2	0			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602													3	52					0	0	1	0	0	A	53880791	G	A	53880791	3	1	54	1	0	0	0	0	1	0	0	0	9296	1087	38	1	2345	1	MAP3K12	12	53880791	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	1170080	53880791	79971104	18	990											
KIF23	9493	broad.mit.edu	37	chr15	69715496	69715496	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgaacttttctttttttAgacgacaagtagatccagag	13	15	7	6	1	1	4	0	1	1	3	2	5	2	4	1	0	1	1	1	0	5	8			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr15:69715496A>T	ENST00000260363.4	+	7	680		c.e7-1		KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000558585.1_Splice_Site	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23						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						TTCTTTTTTTAGACGACAAGT	0.383													4	96					0	0	1	0	0	T	69715496	A	T	69715496	5	4	54	1	0	0	0	0	0	0	1	0	8333	434	15	5	588	5	KIF23	15	69715496	Splice_Site	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		69715496	32815896	19	991											
IFT140	9742	broad.mit.edu	37	chr16	1574691	1574691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtctcgttggctatttgCgcagcctagaaagacaaaga	11	10	10	10	2	1	3	0	0	1	3	2	3	1	3	2	1	2	3	2	1	4	4	rs151293332		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr16:1574691C>T	ENST00000426508.2	-	24	3366	c.3003G>A	c.(3001-3003)gcG>gcA	p.A1001A	IFT140_ENST00000361339.5_Silent_p.A195A	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1001										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)				TGGCTATTTGCGCAGCCTAGA	0.632													3	41					0	0	1	0	0	T	1574691	C	T	1574691	2	4	54	1	0	0	0	0	0	0	0	1	7600	755	27	1		1	IFT140	16	1574691	Silent	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		1574691	88780062	20	992											
SHPK	23729	broad.mit.edu	37	chr17	3514063	3514063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcggaagcatggagtgcaGgttctgaacaatgcctcggc	11	8	13	9	2	1	1	0	1	1	0	3	3	1	3	1	4	4	3	1	4	4	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:3514063G>A	ENST00000225519.3	-	7	1330	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	410					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)		ATGGAGTGCAGGTTCTGAACA	0.632													38	32					0	0	1	0	0	A	3514063	G	A	3514063	2	1	54	1	0	0	0	0	0	0	0	1	14345	991	35	3		3	SHPK	17	3514063	Silent	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		3514063	77681147	21	993											
RECQL5	9400	broad.mit.edu	37	chr17	73623546	73623546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgccagtcagcttcgctctCgcaccgggcccggccatgga	6	7	12	16	4	2	0	1	0	1	0	4	1	2	1	4	3	2	3	4	3	0	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:73623546C>T	ENST00000317905.5	-	20	3091	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E951K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	978					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTCGCTCTCGCACCGGGCC	0.622								Other identified genes with known or suspected DNA repair function					17	49					0	0	1	0	0	T	73623546	C	T	73623546	3	4	54	1	0	0	0	0	1	0	0	0	13255	893	31	1	47	1	RECQL5	17	73623546	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	70109483	73623546	7571664	22	994											
LAMA1	284217	broad.mit.edu	37	chr18	6999964	6999964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtcacaacggaaatcgTggtccccttccaagacacaa	13	6	9	13	3	1	1	1	0	0	1	4	2	3	2	3	3	1	0	3	3	4	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr18:6999964T>C	ENST00000389658.3	-	31	4508	c.4415A>G	c.(4414-4416)cAc>cGc	p.H1472R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1472	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGAAATCGTGGTCCCCTTC	0.423													4	18					0	0	1	0	0	C	6999964	T	C	6999964	3	2	54	1	0	0	0	0	1	0	0	0	8644	1696	59	4	4944	4	LAMA1	18	6999964	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		6999964	71077284	23	995											
MUC16	94025	broad.mit.edu	37	chr19	8999436	8999436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgtaggggcccagcTcagtgatgctgtgggtcagc	6	8	17	10	0	2	1	2	1	0	0	2	1	2	1	2	4	3	3	2	4	1	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:8999436T>C	ENST00000397910.4	-	56	40942	c.40739A>G	c.(40738-40740)gAg>gGg	p.E13580G	MUC16_ENST00000380951.5_Missense_Mutation_p.E221G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13582	SEA 10.			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						GGGGCCCAGCTCAGTGATGCT	0.572													56	177					0	0	1	0	0	C	8999436	T	C	8999436	3	2	54	1	0	0	0	0	1	0	0	0	10021	1551	54	4	2900	4	MUC16	19	8999436	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		8999436	50129547	24	996											
ZNF493	284443	broad.mit.edu	37	chr19	21606900	21606900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacccttactaaacataGgataattcatactgaagaga	17	11	5	8	0	2	2	2	1	0	1	2	4	2	3	1	1	4	0	1	1	8	7	rs141991200		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:21606900G>A	ENST00000392288.2	+	4	1548	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	ZNF493_ENST00000355504.4_Missense_Mutation_p.R352K|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	352					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						ACTAAACATAGGATAATTCAT	0.313													4	20					0	0	1	0	0	A	21606900	G	A	21606900	3	1	54	1	0	0	0	0	1	0	0	0	18001	1000	35	3	1516	3	ZNF493	19	21606900	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	12607464	21606900	37522083	25	997											
ZNF761	388561	broad.mit.edu	37	chr19	53945837	53945837	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggatgctggaccagactTtgcttgacctgaatgagatg	12	10	12	7	0	0	4	0	3	0	2	0	7	0	6	2	2	2	2	2	2	2	2	rs17855120	by1000genomes	TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:53945837T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACCAGACTTTGCTTGACCT	0.512													3	18					0	0	1	0	0	C	53945837	T	C	53945837	1	2	54	0	1	0	0	0	0	0	0	0	18186	1856	64	4		4	ZNF761	19	53945837	RNA	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08	32338937	53945837	5183146	26	998											
PPP1R12C	54776	broad.mit.edu	37	chr19	55602889	55602889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacgctgcattctcatccTtgaggcgctggttgtcagcg	6	12	11	12	3	3	1	3	1	1	0	5	1	4	1	1	2	3	4	1	2	1	3			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:55602889T>C	ENST00000263433.3	-	22	2315	c.2300A>G	c.(2299-2301)aAg>aGg	p.K767R	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K692R|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K704R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	767						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ATTCTCATCCTTGAGGCGCTG	0.637													16	15					0	0	1	0	0	C	55602889	T	C	55602889	3	2	54	1	0	0	0	0	1	0	0	0	12405	1609	56	4	52	4	PPP1R12C	19	55602889	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08	1657052	55602889	3526094	27	999											
SLC19A1	6573	broad.mit.edu	37	chr21	46950865	46950865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatcttcacgaagcccgCggcgaaggacgtgatggcgc	8	5	16	12	7	2	1	1	1	1	0	2	5	2	3	1	4	1	0	1	4	2	1	rs56138890		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr21:46950865C>T	ENST00000311124.4	-	4	1122	c.970G>A	c.(970-972)Gcg>Acg	p.A324T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A324T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A324T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A284T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	324					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACGAAGCCCGCGGCGAAGGAC	0.711													3	26					0	0	1	0	0	T	46950865	C	T	46950865	3	4	54	1	0	0	0	0	1	0	0	0	14483	768	27	1	817	1	SLC19A1	21	46950865	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		46950865	1179030	28	1000											
HMGXB4	10042	broad.mit.edu	37	chr22	35661472	35661472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgacatctggccctcctcCcagcatcccatacgctggag	8	8	9	16	1	1	1	0	1	1	0	4	2	4	2	4	2	2	2	4	2	1	1			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr22:35661472C>A	ENST00000216106.5	+	5	1219	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H	HMGXB4_ENST00000444518.2_Missense_Mutation_p.P255H	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	364					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCCCTCCTCCCAGCATCCCA	0.517													27	15					1.2476e-16	1.28225e-16	1	1	0	A	35661472	C	A	35661472	3	1	54	1	0	0	0	0	1	0	0	0	7280	623	22	5	1105	5	HMGXB4	22	35661472	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		35661472	15643094	29	1001											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507165	74507165	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgttttgccaaacttgtcGtaaactgttctgaattgtct	8	18	7	8	1	3	1	0	1	3	0	4	1	3	1	1	0	3	3	1	0	4	6			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr1:74507165G>A	ENST00000354431.4	-	7	1641	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.R484*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	484								p.R484R(1)		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						CAAACTTGTCGTAAACTGTTC	0.318													33	53					0	0	1	0	0	A	74507165	G	A	74507165	4	1	55	1	0	0	0	0	0	1	0	0	9075	1153	40	1	432	1	LRRIQ3	1	74507165	Nonsense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		74507165	174743456	1	1002											
SPTA1	6708	broad.mit.edu	37	chr1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgagccagccGcaactggatctcctcttgcc	10	9	7	15	1	3	1	1	1	2	0	4	2	3	2	4	1	6	1	4	1	3	2			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 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)					TGAGCCAGCCGCAACTGGATC	0.522													50	83					0	0	1	0	0	A	158605758	G	A	158605758	3	1	55	1	0	0	0	0	1	0	0	0	15172	1086	38	1	1942	1	SPTA1	1	158605758	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08	84098593	158605758	90644863	2	1003											
STK36	27148	broad.mit.edu	37	chr2	219561571	219561571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcagcagacatacacatGagttgtgaggtcagagggtt	11	11	13	6	0	2	4	2	2	0	2	2	4	2	4	0	2	2	4	0	2	1	4			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr2:219561571G>A	ENST00000392106.2	+	22	2780	c.2514G>A	c.(2512-2514)atG>atA	p.M838I	STK36_ENST00000440309.1_Intron|STK36_ENST00000295709.3_Intron|STK36_ENST00000392105.3_Intron			Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	838					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)		ACATACACATGAGTTGTGAGG	0.458													36	45					0	0	1	0	0	A	219561571	G	A	219561571	3	1	55	1	0	0	0	0	1	0	0	0	15358	1305	45	3		3	STK36	2	219561571	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		219561571	23637802	3	1004											
BAP1	8314	broad.mit.edu	37	chr3	52442512	52442512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgggcaaagaacatgttaTtcacaatatcatcatcaatc	15	11	7	8	0	4	1	4	0	0	1	5	1	4	1	0	2	1	2	0	2	6	3			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr3:52442512T>C	ENST00000460680.1	-	4	704	c.233A>G	c.(232-234)aAt>aGt	p.N78S	BAP1_ENST00000296288.5_Missense_Mutation_p.N78S	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	78					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.N78S(2)|p.I72fs*7(1)|p.I76fs*45(1)		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)		GAACATGTTATTCACAATATC	0.488			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							4	2					0	0	1	0	0	C	52442512	T	C	52442512	3	2	55	1	0	0	0	0	1	0	0	0	1309	1493	52	4	2012	4	BAP1	3	52442512	Missense_Mutation	SNP	T	TCGA-VD-AA8N-01A-11D-A39W-08		52442512	145579918	4	1005											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091489	+	In_Frame_Del	DEL	GCT	GCT	-																															ccaagcgcatggaaagacacGctgctgctgctgctgtccaa																										TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr4:159091487_159091489delGCT	ENST00000393807.5	-	3	1327_1329	c.921_923delAGC	c.(919-924)gcagcg>gcg	p.307_308AA>A	FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000296530.8_Intron	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													7	79	---	---	---	---						-	159091489	GCT	-	159091487	7	5	55	1	0	1	0	1	0	0	0	0	5561	1087	38	0	753	0	FAM198B	4	159091487	In_Frame_Del	DEL	GCT	TCGA-VD-AA8N-01A-11D-A39W-08		159091487	32062789	5	1006											
TTLL2	83887	broad.mit.edu	37	chr6	167754272	167754272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taatttgcaaaacaattatgCccatttgaccaacagcagca	16	10	5	10	0	0	1	0	1	0	0	0	1	0	1	2	0	6	3	2	0	6	4			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr6:167754272C>T	ENST00000239587.5	+	3	972	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	295	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACAATTATGCCCATTTGACC	0.408													4	128					0	0	1	0	0	T	167754272	C	T	167754272	3	4	55	1	0	0	0	0	1	0	0	0	16789	739	26	2	894	2	TTLL2	6	167754272	Missense_Mutation	SNP	C	TCGA-VD-AA8N-01A-11D-A39W-08		167754272	3360795	6	1007											
PREX2	80243	broad.mit.edu	37	chr8	68992730	68992730	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacttttccgttttttttcGgatgaggaaatggagggatc	8	16	11	6	2	0	1	0	1	0	0	3	5	1	5	1	4	1	1	1	4	2	7			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr8:68992730G>T	ENST00000288368.4	+	16	1972	c.1695G>T	c.(1693-1695)tcG>tcT	p.S565S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	565	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTTTTTTCGGATGAGGAAA	0.323													43	61					2.77807e-22	2.89886e-22	1	1	0	T	68992730	G	T	68992730	2	4	55	1	0	0	0	0	0	0	0	1	12529	1103	39	5		5	PREX2	8	68992730	Silent	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		68992730	77371292	7	1008											
MYH6	4624	broad.mit.edu	37	chr14	23862938	23862955	+	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	GTCCTTCTTGAGCTCTGA	-																															gtcagctccaggtcatcaatGtccttcttgagctctgagca																										TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr14:23862938_23862955delGTCCTTCTTGAGCTCTGA	ENST00000405093.3	-	22	2918_2935	c.2848_2865delTCAGAGCTCAAGAAGGAC	c.(2848-2865)tcagagctcaagaaggacdel	p.SELKKD950del	MYH6_ENST00000356287.3_In_Frame_Del_p.SELKKD950del	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	950					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	actin binding|actin-dependent ATPase activity|ATP binding|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)		GGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCT	0.56													12	81	---	---	---	---						-	23862955	GTCCTTCTTGAGCTCTGA	-	23862938	7	5	55	1	0	1	0	1	0	0	0	0	10086	1368	48	0	3026	0	MYH6	14	23862938	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	TCGA-VD-AA8N-01A-11D-A39W-08		23862938	83486602	8	1009											
NLRC5	84166	broad.mit.edu	37	chr16	57059885	57059885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcctggctgccgggtgatgGctacctcccgtccagggaag	5	8	15	13	2	0	1	0	1	0	0	2	2	2	2	5	4	3	2	5	4	2	1			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr16:57059885G>A	ENST00000436936.1	+	6	1255	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A344T|NLRC5_ENST00000262510.6_Missense_Mutation_p.A344T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A344T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	344	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGGGTGATGGCTACCTCCCG	0.622													3	32					0	0	1	0	0	A	57059885	G	A	57059885	3	1	55	1	0	0	0	0	1	0	0	0	10517	1203	42	2	1044	2	NLRC5	16	57059885	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		57059885	33294868	9	1010											
SEC14L1	6397	broad.mit.edu	37	chr17	75208190	75208190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacctctccgggtgggaaCaatgtgcagctcatagacaa	12	8	10	11	1	3	1	2	0	1	1	4	2	3	2	2	2	3	2	2	2	4	1			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr17:75208190C>T	ENST00000413679.2	+	15	2073	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC14L1_ENST00000431431.2_Silent_p.N556N|SEC14L1_ENST00000436233.4_Silent_p.N590N|SEC14L1_ENST00000443798.4_Silent_p.N590N|SEC14L1_ENST00000591437.1_Silent_p.N556N|SEC14L1_ENST00000430767.4_Silent_p.N590N|SEC14L1_ENST00000392476.2_Silent_p.N590N|SEC14L1_ENST00000585618.1_Silent_p.N590N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	590	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CGGGTGGGAACAATGTGCAGC	0.532													72	140					0	0	1	0	0	T	75208190	C	T	75208190	2	4	55	1	0	0	0	0	0	0	0	1	14035	477	17	3		3	SEC14L1	17	75208190	Silent	SNP	C	TCGA-VD-AA8N-01A-11D-A39W-08		75208190	5987020	10	1011											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								22	41					0	0	1	0	0	T	3118942	A	T	3118942	3	4	55	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8N-01A-11D-A39W-08		3118942	56010041	11	1012											
MORC3	23515	broad.mit.edu	37	chr21	37732303	37732303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcctgtctaaagtggcGgaaattacctgatgggatgg	10	11	14	6	1	1	2	0	2	1	0	1	4	1	4	2	4	2	0	2	4	4	2			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr21:37732303G>A	ENST00000400485.1	+	11	1335	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	420					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	p.R420Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTAAAGTGGCGGAAATTACCT	0.418													61	79					0	0	1	0	0	A	37732303	G	A	37732303	3	1	55	1	0	0	0	0	1	0	0	0	9752	1116	39	1	1301	1	MORC3	21	37732303	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		37732303	10397592	12	1013											
ASPM	259266	broad.mit.edu	37	chr1	197111536	197111536	+	Missense_Mutation	SNP	T	T	G																															tgttgtcacattttttgtttTcttaacagctgatgttttag																										TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111536T>G	ENST00000367409.4	-	3	2102	c.1846A>C	c.(1846-1848)Aaa>Caa	p.K616Q	ASPM_ENST00000294732.7_Missense_Mutation_p.K616Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	616					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						TTTTTTGTTTTCTTAACAGCT	0.348													81	77					0	0	1	0	0	G	197111536	T	G	197111536	3	3	56	1	0	0	0	0	1	0	0	0	1055	1792	62	5	8691	5	ASPM	1	197111536	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		197111536	52139085	1	1014	11	2									
ASPM	259266	broad.mit.edu	37	chr1	197111537	197111537	+	Silent	SNP	C	C	T																															gttgtcacattttttgttttCttaacagctgatgttttagg																										TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111537C>T	ENST00000367409.4	-	3	2101	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	ASPM_ENST00000294732.7_Silent_p.K615K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	615					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						TTTTTGTTTTCTTAACAGCTG	0.348													81	79					0	0	1	0	0	T	197111537	C	T	197111537	2	4	56	1	0	0	0	0	0	0	0	1	1055	912	32	3		3	ASPM	1	197111537	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	1	197111537	52139084	2	1015	11	2									
RNF25	64320	broad.mit.edu	37	chr2	219529520	219529520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcaatgattccccccCgctcctgctgcctctggtag	6	10	9	16	1	2	1	1	1	1	0	4	1	4	1	5	2	2	3	5	2	3	2	rs147462219	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr2:219529520C>G	ENST00000295704.2	-	9	1183	c.743G>C	c.(742-744)cGg>cCg	p.R248P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	248					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTCCCCCCCGCTCCTGCTG	0.577													18	44					0	0	1	0	0	G	219529520	C	G	219529520	3	3	56	1	0	0	0	0	1	0	0	0	13537	652	23	5	644	5	RNF25	2	219529520	Missense_Mutation	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08		219529520	23669853	3	1016											
HTR3E	285242	broad.mit.edu	37	chr3	183819281	183819281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttggcagaatgaacaGctgcacctcttgtcatcatt	9	15	7	10	0	4	2	2	1	2	1	4	2	4	2	1	1	3	3	1	1	2	5			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr3:183819281G>T	ENST00000415389.2	+	3	709	c.243G>T	c.(241-243)caG>caT	p.Q81H	HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q96H|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	81						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGAATGAACAGCTGCACCTCT	0.418													32	45					3.67414e-24	3.79266e-24	1	1	0	T	183819281	G	T	183819281	3	4	56	1	0	0	0	0	1	0	0	0	7492	962	34	5	294	5	HTR3E	3	183819281	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		183819281	14203149	4	1017											
GAB1	2549	broad.mit.edu	37	chr4	144336795	144336795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttaacaaaaaagagtttGaaaacagctacatttttgat	18	13	5	5	0	0	3	0	2	0	1	0	3	0	3	0	0	4	2	0	0	7	6			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr4:144336795G>A	ENST00000262995.4	+	2	665	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GAB1_ENST00000262994.4_Missense_Mutation_p.E80K|GAB1_ENST00000505913.1_5'UTR	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	80	PH.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AAAAGAGTTTGAAAACAGCTA	0.333													13	21					0	0	1	0	0	A	144336795	G	A	144336795	3	1	56	1	0	0	0	0	1	0	0	0	6183	1291	45	3	244	3	GAB1	4	144336795	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		144336795	46817481	5	1018											
ARPC1B	10095	broad.mit.edu	37	chr7	98985821	98985821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcccccaacgagaacaAgtttgctgtgggcagcggct	8	7	14	12	2	0	1	0	0	0	1	0	2	0	1	2	3	4	4	2	3	3	1			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:98985821A>G	ENST00000451682.1	+	6	638	c.329A>G	c.(328-330)aAg>aGg	p.K110R	ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K110R			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	110					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACGAGAACAAGTTTGCTGTG	0.617													24	38					0	0	1	0	0	G	98985821	A	G	98985821	3	3	56	1	0	0	0	0	1	0	0	0	969	72	3	4	339	4	ARPC1B	7	98985821	Missense_Mutation	SNP	A	TCGA-VD-AA8O-01A-11D-A39W-08		98985821	60152842	6	1019											
PLXNA4	91584	broad.mit.edu	37	chr7	131910977	131910977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctggcgaaggtcatgccgGtctcctttgatttgagctga	6	13	13	9	2	2	3	1	3	1	0	3	4	2	3	2	3	3	2	2	3	1	2			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:131910977G>A	ENST00000359827.3	-	8	2887	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T642I			Q9HCM2	PLXA4_HUMAN	plexin A4	642						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						GGTCATGCCGGTCTCCTTTGA	0.562													67	80					0	0	1	0	0	A	131910977	G	A	131910977	3	1	56	1	0	0	0	0	1	0	0	0	12170	1261	44	3	3859	3	PLXNA4	7	131910977	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08	32925156	131910977	27227686	7	1020											
GRID1	2894	broad.mit.edu	37	chr10	87362425	87362425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgaggctgttcatgcGccggtggacctgctccaagt	7	10	12	12	2	1	1	1	1	0	0	3	2	3	2	4	3	2	3	4	3	1	1			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr10:87362425G>A	ENST00000327946.7	-	16	2720	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879						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)	CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)			6	9					0	0	1	0	0	A	87362425	G	A	87362425	3	1	56	1	0	0	0	0	1	0	0	0	6812	1087	38	1	398	1	GRID1	10	87362425	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		87362425	48172322	8	1021											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													7	34					0	0	1	0	0	G	61161357	T	G	61161357	5	3	56	1	0	0	0	0	0	0	1	0	16199	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		61161357	73845159	9	1022											
ATG2A	23130	broad.mit.edu	37	chr11	64677225	64677225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgctaagctctgaccGgaactggggctcactcagct	8	8	10	15	1	3	1	2	1	1	0	3	2	3	2	2	3	4	4	2	3	2	1			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr11:64677225G>A	ENST00000421419.2	-	14	2149	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	ATG2A_ENST00000377264.3_Missense_Mutation_p.R679W			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	679							protein binding	p.R679R(1)		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						AGCTCTGACCGGAACTGGGGC	0.682													3	44					0	0	1	0	0	A	64677225	G	A	64677225	3	1	56	1	0	0	0	0	1	0	0	0	1092	1115	39	1	3893	1	ATG2A	11	64677225	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08	3515868	64677225	70329291	10	1023											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													6	29					0	0	1	0	0	C	3649787	T	C	3649787	3	2	56	1	0	0	0	0	1	0	0	0	12594	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		3649787	130202108	11	1024											
OGFOD2	79676	broad.mit.edu	37	chr12	123461285	123461285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgcgagttcctaccacccgGcacggcctgaggtctacgac	7	7	11	16	5	1	1	0	1	1	0	3	3	2	1	4	3	2	2	4	3	2	3			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:123461285G>A	ENST00000397389.2	+	4	833	c.94G>A	c.(94-96)Gca>Aca	p.A32T	ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000538628.1_5'UTR|OGFOD2_ENST00000454694.2_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.A92T|OGFOD2_ENST00000545317.1_5'UTR	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	92							iron ion binding|L-ascorbic acid 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)	CTACCACCCGGCACGGCCTGA	0.652													3	31					0	0	1	0	0	A	123461285	G	A	123461285	3	1	56	1	0	0	0	0	1	0	0	0	10890	1203	42	2	100	2	OGFOD2	12	123461285	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08	119811498	123461285	10390610	12	1025											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcagtatttatttccTgaccgtgctgagtgttgtgc	7	15	11	8	1	0	2	0	2	0	0	1	2	1	2	2	0	4	5	2	0	3	6			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					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)	ATTTATTTCCTGACCGTGCTG	0.468													40	124					0	0	1	0	0	A	49281339	T	A	49281339	3	1	56	1	0	0	0	0	1	0	0	0	4225	1580	55	5	388	5	CYSLTR2	13	49281339	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		49281339	65888539	13	1026											
KCNH5	27133	broad.mit.edu	37	chr14	63417240	63417240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcccagtcgtaagagaCgcaccacttttaaagaactg	13	7	9	12	3	0	2	0	0	0	2	1	3	0	2	2	1	1	2	2	1	4	3			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr14:63417240C>T	ENST00000322893.7	-	7	1248	c.980G>A	c.(979-981)cGt>cAt	p.R327H	KCNH5_ENST00000394964.2_Missense_Mutation_p.R269H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R269H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R327H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	327					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R327L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCGTAAGAGACGCACCACTTT	0.448													12	47					0	0	1	0	0	T	63417240	C	T	63417240	3	4	56	1	0	0	0	0	1	0	0	0	8079	536	19	1	2040	1	KCNH5	14	63417240	Missense_Mutation	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08		63417240	43932300	14	1027											
ABR	29	broad.mit.edu	37	chr17	960239	960239	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggttcccgagcttaccGtctttattgctggtgacagg	5	14	11	11	2	2	1	0	1	2	0	3	2	3	1	2	3	3	3	2	3	2	5			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr17:960239G>A	ENST00000544583.2	-	13	1946	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Splice_Site_p.D458D|ABR_ENST00000536794.2_Splice_Site_p.D277D|ABR_ENST00000302538.5_Splice_Site_p.D495D|ABR_ENST00000574437.1_Splice_Site_p.D449D	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	495	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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			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)		CGAGCTTACCGTCTTTATTGC	0.562													85	120					0	0	1	0	0	A	960239	G	A	960239	5	1	56	1	0	0	0	0	0	0	1	0	99	1159	40	1	1138	1	ABR	17	960239	Splice_Site	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		960239	80234971	15	1028											
ILVBL	10994	broad.mit.edu	37	chr19	15230041	15230041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcccggatgtggaggggGtggttgcggcctaacagccc	5	9	16	11	2	1	0	0	0	1	0	2	2	1	2	3	6	3	1	3	6	1	3			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:15230041G>T	ENST00000263383.3	-	9	1126	c.987C>A	c.(985-987)caC>caA	p.H329Q	ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGTGGAGGGGGTGGTTGCGGC	0.642													5	95					0.0293803	0.0293803	1	1	0	T	15230041	G	T	15230041	3	4	56	1	0	0	0	0	1	0	0	0	7759	1252	44	5	943	5	ILVBL	19	15230041	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		15230041	43898942	16	1029											
ERCC2	2068	broad.mit.edu	37	chr19	45855905	45855905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcaggtattccagccgCgcctgcagatacggaggatg	8	7	13	13	4	0	1	0	0	0	1	2	3	2	3	4	3	3	3	4	3	2	3	rs145835916		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:45855905C>T	ENST00000391945.4	-	21	1982	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	ERCC2_ENST00000391944.3_Silent_p.A557A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	635	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|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|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATTCCAGCCGCGCCTGCAGAT	0.597			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	27					0	0	1	0	0	T	45855905	C	T	45855905	2	4	56	1	0	0	0	0	0	0	0	1	5241	755	27	1		1	ERCC2	19	45855905	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	30625864	45855905	13273078	17	1030											
CTDSP1	58190	broad.mit.edu	37	chr2	219268127	219268127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctcctatgtcttccAtccagacaatgctgtgagtg	8	12	8	13	0	1	2	0	1	1	1	4	2	4	2	5	0	2	1	5	0	2	2			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr2:219268127A>G	ENST00000273062.2	+	6	980	c.644A>G	c.(643-645)cAt>cGt	p.H215R	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.H214R	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	215	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGTCTTCCATCCAGACAAT	0.607													14	24					0	0	1	0	0	G	219268127	A	G	219268127	3	3	57	1	0	0	0	0	1	0	0	0	4027	217	8	4	666	4	CTDSP1	2	219268127	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		219268127	23931246	1	1031											
TWF2	11344	broad.mit.edu	37	chr3	52263159	52263159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttgaaggcgtgttgcttgGggtgcacctcgtcgtagagg	5	11	17	8	3	0	2	0	1	0	1	2	2	0	2	1	4	2	5	1	4	2	4			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr3:52263159G>C	ENST00000305533.5	-	9	1184	c.941C>G	c.(940-942)cCc>cGc	p.P314R	TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000597542.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGTTGCTTGGGGTGCACCTC	0.642													29	2					0	0	1	0	0	C	52263159	G	C	52263159	3	2	57	1	0	0	0	0	1	0	0	0	16844	1232	43	5	112	5	TWF2	3	52263159	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08		52263159	145759271	2	1032											
FAM13B	0	broad.mit.edu	37	chr5	137288386	137288386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggattggcagcaatatCactgtaggagggctgaaaaa	13	10	12	6	0	1	1	1	1	0	0	1	3	1	3	0	4	1	4	0	4	5	4			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr5:137288386C>A	ENST00000033079.3	-	16	2246	c.1795G>T	c.(1795-1797)Gat>Tat	p.D599Y	FAM13B_ENST00000420893.2_Missense_Mutation_p.D599Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.D503Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	599					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GCAGCAATATCACTGTAGGAG	0.333													42	3					1.51926e-22	1.51926e-22	1	1	0	A	137288386	C	A	137288386	3	1	57	1	0	0	0	0	1	0	0	0	5483	826	29	5	984	5	FAM13B	5	137288386	Missense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		137288386	43626874	3	1033											
SYBU	55638	broad.mit.edu	37	chr8	110590198	110590198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatactgctctgggtttggGggtctgacaccatgattttc	8	14	11	8	0	2	2	0	2	2	0	3	2	2	2	1	3	2	2	1	3	2	4			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr8:110590198G>T	ENST00000399066.3	-	5	1501	c.774C>A	c.(772-774)ccC>ccA	p.P258P	SYBU_ENST00000408889.3_Silent_p.P142P|SYBU_ENST00000422135.1_Silent_p.P261P|SYBU_ENST00000529690.1_Silent_p.P131P|SYBU_ENST00000446070.2_Silent_p.P260P|SYBU_ENST00000533171.1_Silent_p.P261P|SYBU_ENST00000408908.2_Silent_p.P261P|SYBU_ENST00000433638.1_Silent_p.P261P|SYBU_ENST00000528331.1_Silent_p.P142P|SYBU_ENST00000533065.1_Silent_p.P142P|SYBU_ENST00000529175.1_Silent_p.P55P|SYBU_ENST00000276646.9_Silent_p.P261P|SYBU_ENST00000424158.2_Silent_p.P266P|SYBU_ENST00000533895.1_Silent_p.P260P|SYBU_ENST00000440310.1_Silent_p.P261P|SYBU_ENST00000532779.1_Silent_p.P193P|SYBU_ENST00000528647.1_Silent_p.P260P|SYBU_ENST00000419099.1_Silent_p.P260P|SYBU_ENST00000527707.1_5'UTR	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	261	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGGGTTTGGGGGTCTGACAC	0.453													96	57					3.78979e-47	4.09297e-47	1	1	0	T	110590198	G	T	110590198	2	4	57	1	0	0	0	0	0	0	0	1	15483	1219	43	5		5	SYBU	8	110590198	Silent	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08		110590198	35773824	4	1034											
C8orf31	286122	broad.mit.edu	37	chr8	144124604	144124604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtacgcacagggcccagggGctgctggctgccaggaccac	7	5	15	14	1	0	0	0	0	0	0	0	1	0	1	3	5	3	5	3	5	1	1			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr8:144124604G>A	ENST00000395172.1	+	3	463	c.111G>A	c.(109-111)ggG>ggA	p.G37G	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	37										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGCCCAGGGGCTGCTGGCTG	0.642													23	16					0	0	1	0	0	A	144124604	G	A	144124604	2	1	57	1	0	0	0	0	0	0	0	1	2437	1190	42	2		2	C8orf31	8	144124604	Silent	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	33534406	144124604	2239418	5	1035											
TMEM2	23670	broad.mit.edu	37	chr9	74324303	74324303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcacagagccatcaaTgtcatggaatatggagttct	11	12	9	9	0	4	1	3	0	1	1	5	3	5	3	2	2	1	1	2	2	3	2			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr9:74324303T>C	ENST00000377044.4	-	17	3396	c.2857A>G	c.(2857-2859)Att>Gtt	p.I953V	TMEM2_ENST00000377066.5_Missense_Mutation_p.I890V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	953						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)		GAGCCATCAATGTCATGGAAT	0.448													28	34					0	0	1	0	0	C	74324303	T	C	74324303	3	2	57	1	0	0	0	0	1	0	0	0	16181	1464	51	4	1326	4	TMEM2	9	74324303	Missense_Mutation	SNP	T	TCGA-VD-AA8P-01A-11D-A39W-08		74324303	66889128	6	1036											
ALG1	56052	broad.mit.edu	37	chr16	5121851	5121851	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgcgggccagccaagAtggcggcctcatgcttggtc	6	8	14	13	2	1	1	1	0	0	1	2	1	1	1	3	4	4	2	3	4	1	1			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr16:5121851A>G	ENST00000262374.5	+	1	32	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ALG1_ENST00000588623.1_Intron	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	1					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				GCCAGCCAAGATGGCGGCCTC	0.721													8	10					0	0	1	0	0	G	5121851	A	G	5121851	1	3	57	1	0	0	0	0	0	0	0	0	507	333	12	4		4	ALG1	16	5121851	Translation_Start_Site	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		5121851	85232902	7	1037											
OSGIN1	29948	broad.mit.edu	37	chr16	83999242	83999242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcctgtcgcccagcccctAtgagggttaccgcagcctcc	6	8	9	18	2	0	1	0	1	0	0	3	1	2	1	7	1	3	2	7	1	2	2			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr16:83999242A>G	ENST00000343939.2	+	7	1696	c.1313A>G	c.(1312-1314)tAt>tGt	p.Y438C	OSGIN1_ENST00000361711.3_Missense_Mutation_p.Y355C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.Y355C			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	438					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						CCCAGCCCCTATGAGGGTTAC	0.617													18	15					0	0	1	0	0	G	83999242	A	G	83999242	3	3	57	1	0	0	0	0	1	0	0	0	11336	449	16	4	1339	4	OSGIN1	16	83999242	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08	78877391	83999242	6355511	8	1038											
SLC13A5	284111	broad.mit.edu	37	chr17	6594096	6594096	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccactgtcaggttacttAccatggaggcaaagatgggc	10	9	11	11	0	1	1	1	0	0	1	2	2	2	2	3	4	2	2	3	4	3	2			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:6594096A>T	ENST00000433363.2	-	10	1671		c.e10+1		SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site|SLC13A5_ENST00000381074.4_Splice_Site	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5							integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAGGTTACTTACCATGGAGGC	0.552													39	56					0	0	1	0	0	T	6594096	A	T	6594096	5	4	57	1	0	0	0	0	0	0	1	0	14450	405	14	5	279	5	SLC13A5	17	6594096	Splice_Site	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		6594096	74601114	9	1039											
BRCA1	672	broad.mit.edu	37	chr17	41244681	41244681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgttgcctctgaactgaGatgatagacaaaacctagag	13	11	9	8	1	1	5	0	3	1	3	2	6	1	5	2	0	3	1	2	0	5	4	rs80357961		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:41244681G>C	ENST00000309486.4	-	9	3006	c.1979C>G	c.(1978-1980)tCt>tGt	p.S660C	BRCA1_ENST00000354071.3_Missense_Mutation_p.S956C|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S956C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S956C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S909C|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S956C|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	956					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|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|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|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 cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|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	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			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)		TCTGAACTGAGATGATAGACA	0.393			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			4	143					0	0	1	0	0	C	41244681	G	C	41244681	3	2	57	1	0	0	0	0	1	0	0	0	1500	942	33	5	2850	5	BRCA1	17	41244681	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	34650585	41244681	39950529	10	1040											
DNAH17	8632	broad.mit.edu	37	chr17	76563118	76563118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggatcatatttgcagtcgGcaaaaaccttcaccagctca	13	9	8	11	1	3	0	3	0	0	0	4	1	3	1	2	2	3	3	2	2	3	3			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:76563118G>A	ENST00000389840.5	-	10	1539	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A472V					dynein, axonemal, heavy chain 17											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)			TTTGCAGTCGGCAAAAACCTT	0.567													4	21					0	0	1	0	0	A	76563118	G	A	76563118	3	1	57	1	0	0	0	0	1	0	0	0	4629	1203	42	2	12261	2	DNAH17	17	76563118	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	35318437	76563118	4632092	11	1041											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								32	42					0	0	1	0	0	T	3118942	A	T	3118942	3	4	57	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		3118942	56010041	12	1042											
ZNF446	55663	broad.mit.edu	37	chr19	58991009	58991009	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgggccacatccgcaGgaggagtgggggctgctgga	8	6	19	8	1	0	1	0	1	0	0	1	4	1	4	2	6	1	3	2	6	0	0			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr19:58991009G>C	ENST00000596341.1	+	5	2847		c.e5-1		ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site			Q9NWS9	ZN446_HUMAN	zinc finger protein 446						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		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)		CACATCCGCAGGAGGAGTGGG	0.582													7	6					0	0	1	0	0	C	58991009	G	C	58991009	5	2	57	1	0	0	0	0	0	0	1	0	17976	1014	35	5	641	5	ZNF446	19	58991009	Splice_Site	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	55872067	58991009	137974	13	1043											
GFRA4	64096	broad.mit.edu	37	chr20	3644008	3644010	+	In_Frame_Del	DEL	CAG	CAG	-																															gaggggcgctcacccagtaaCagcagcagcagcagcgcagg																										TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr20:3644008_3644010delCAG	ENST00000290417.2	-	1	36_38	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_ENST00000319242.3_In_Frame_Del_p.L15del	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	15						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621													2	4	---	---	---	---						-	3644010	CAG	-	3644008	7	5	57	1	0	1	0	1	0	0	0	0	6392	465	17	0	880	0	GFRA4	20	3644008	In_Frame_Del	DEL	CAG	TCGA-VD-AA8P-01A-11D-A39W-08		3644008	59381512	14	1044											
CDH4	1002	broad.mit.edu	37	chr20	60470052	60470065	+	Frame_Shift_Del	DEL	CATCACGGTGACAG	CATCACGGTGACAG	-																															tcaaacacagccacagccatCatcacggtgacagatgtgaa																								rs149375024	by1000genomes	TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr20:60470052_60470065delCATCACGGTGACAG	ENST00000360469.5	+	8	1225_1238	c.1137_1150delCATCACGGTGACAG	c.(1135-1152)atcatcacggtgacagatfs	p.ITVTD380fs	CDH4_ENST00000543233.1_Frame_Shift_Del_p.ITVTD306fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	380	Cadherin 2.				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)			CCACAGCCATCATCACGGTGACAGATGTGAATGA	0.547													28	73	---	---	---	---						-	60470065	CATCACGGTGACAG	-	60470052	7	5	57	1	0	1	0	1	0	0	0	0	3134	816	29	0	1167	0	CDH4	20	60470052	Frame_Shift_Del	DEL	CATCACGGTGACAG	TCGA-VD-AA8P-01A-11D-A39W-08	56826044	60470052	2555468	15	1045											
TMEM35	59353	broad.mit.edu	37	chrX	100349757	100349757	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgctcttcttccacCagctggtcggtgatcctctc	3	14	10	14	1	3	1	0	1	3	0	7	1	5	1	3	3	2	3	3	3	0	2			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:100349757C>T	ENST00000372930.4	+	2	599	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	106						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CTTCTTCCACCAGCTGGTCGG	0.577													47	52					0	0	1	0	0	T	100349757	C	T	100349757	4	4	57	1	0	0	0	0	0	1	0	0	16217	595	21	3	322	3	TMEM35	23	100349757	Nonsense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		100349757	54920803	16	1046											
RAB33A	9363	broad.mit.edu	37	chrX	129318341	129318341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacgtacatgccgtggTcttcgtctatgacgtcacca	8	10	9	14	5	3	1	1	1	2	0	4	1	3	1	3	1	3	2	3	1	3	3			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:129318341T>C	ENST00000257017.4	+	2	755	c.341T>C	c.(340-342)gTc>gCc	p.V114A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	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						CATGCCGTGGTCTTCGTCTAT	0.502													23	32					0	0	1	0	0	C	129318341	T	C	129318341	3	2	57	1	0	0	0	0	1	0	0	0	12974	1667	58	4	347	4	RAB33A	23	129318341	Missense_Mutation	SNP	T	TCGA-VD-AA8P-01A-11D-A39W-08	28968584	129318341	25952219	17	1047											
ACTRT2	140625	broad.mit.edu	37	chr1	2939192	2939192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccacgggctggatgaccgGcttctcaaggagctggagca	8	8	14	11	2	1	1	1	1	1	0	3	4	2	4	2	5	2	4	2	5	1	2			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr1:2939192G>A	ENST00000378404.2	+	1	1147	c.942G>A	c.(940-942)cgG>cgA	p.R314R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	314						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGGATGACCGGCTTCTCAAGG	0.607													25	27					0	0	1	0	0	A	2939192	G	A	2939192	2	1	58	1	0	0	0	0	0	0	0	1	218	1190	42	2		2	ACTRT2	1	2939192	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		2939192	246311429	1	1048											
GAP43	2596	broad.mit.edu	37	chr3	115395065	115395065	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttgccgatggggtggAgaagaagggagaaggcacca	11	5	17	8	1	0	3	0	0	0	3	0	6	0	3	3	5	1	2	3	5	3	1			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:115395065A>C	ENST00000393780.3	+	3	812	c.344A>C	c.(343-345)gAg>gCg	p.E115A	GAP43_ENST00000305124.6_Missense_Mutation_p.E79A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	79					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GATGGGGTGGAGAAGAAGGGA	0.537													19	21					0	0	1	0	0	C	115395065	A	C	115395065	3	2	58	1	0	0	0	0	1	0	0	0	6275	304	11	5	384	5	GAP43	3	115395065	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		115395065	82627365	2	1049											
KY	339855	broad.mit.edu	37	chr3	134343938	134343938	+	Frame_Shift_Del	DEL	A	A	-																															tctcaaactgctgcaggtccAgggacatggatttcaggcta																										TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:134343938delA	ENST00000508956.1	-	5	434	c.377delT	c.(376-378)ctgfs	p.L126fs	KY_ENST00000423778.2_Frame_Shift_Del_p.L147fs|KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	147						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGGTCCAGGGACATGGA	0.567													2	4	---	---	---	---						-	134343938	A	-	134343938	7	5	58	1	0	1	0	1	0	0	0	0	8625	188	7	0	1569	0	KY	3	134343938	Frame_Shift_Del	DEL	A	TCGA-VD-AA8Q-01A-11D-A39W-08	18948873	134343938	63678492	3	1050											
RASA2	5922	broad.mit.edu	37	chr3	141231112	141231112	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgtacccaagttgtggaaAaatctttaaggttggtagaa	14	12	10	5	1	1	1	0	0	1	1	2	2	1	2	1	3	1	4	1	3	7	6			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:141231112A>C	ENST00000286364.3	+	2	276	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	RASA2_ENST00000452898.1_Missense_Mutation_p.K81Q			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	81	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGTTGTGGAAAAATCTTTAAG	0.284													18	21					0	0	1	0	0	C	141231112	A	C	141231112	3	2	58	1	0	0	0	0	1	0	0	0	13113	15	1	5	247	5	RASA2	3	141231112	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08	6887174	141231112	56791318	4	1051											
EXOC2	55770	broad.mit.edu	37	chr6	610103	610103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacaaaacttactgttcAgaacattctccagtttctgc	12	13	6	10	0	3	1	1	0	2	1	4	2	3	2	1	1	4	2	1	1	5	5			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:610103A>G	ENST00000230449.4	-	7	872	c.737T>C	c.(736-738)cTg>cCg	p.L246P	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	246					exocytosis|protein transport					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)		CTTACTGTTCAGAACATTCTC	0.368													17	22					0	0	1	0	0	G	610103	A	G	610103	3	3	58	1	0	0	0	0	1	0	0	0	5329	188	7	4	2125	4	EXOC2	6	610103	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		610103	170504964	5	1052											
NUDT1	4521	broad.mit.edu	37	chr7	2284320	2284320	+	Frame_Shift_Del	DEL	C	C	-																															cggtggaatggctttgggggCaaagtgcaagaaggagagac																										TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:2284320delC	ENST00000397049.1	+	3	282	c.180delC	c.(178-180)ggcfs	p.G60fs	NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000397046.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	78	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCTTTGGGGGCAAAGTGCAAG	0.617								Modulation of nucleotide pools					2	4	---	---	---	---						-	2284320	C	-	2284320	7	5	58	1	0	1	0	1	0	0	0	0	10773	697	25	0	186	0	NUDT1	7	2284320	Frame_Shift_Del	DEL	C	TCGA-VD-AA8Q-01A-11D-A39W-08		2284320	156854343	6	1053											
FASTK	10922	broad.mit.edu	37	chr7	150776028	150776028	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctcggagaaggggctgcaAagggggaggtggcttcggag	9	5	20	7	2	0	1	0	0	0	1	2	4	0	3	1	8	1	3	1	8	2	1			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:150776028A>C	ENST00000297532.6	-	3	663	c.586T>G	c.(586-588)Ttg>Gtg	p.L196V	FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	196					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)		AGGGGCTGCAAAGGGGGAGGT	0.622													5	7					0	0	1	0	0	C	150776028	A	C	150776028	3	2	58	1	0	0	0	0	1	0	0	0	5717	11	1	5	1095	5	FASTK	7	150776028	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08	148491708	150776028	8362635	7	1054											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								22	51					0	0	1	0	0	G	80409488	T	G	80409488	3	3	58	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08		80409488	60803943	8	1055											
TTF1	7270	broad.mit.edu	37	chr9	135251526	135251526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttccttcagcaaaggtaGagtcgtctcataaaggtagt	11	13	9	8	1	2	1	2	0	1	1	5	1	3	1	1	2	1	3	1	2	5	6			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:135251526G>C	ENST00000334270.2	-	11	2533	c.2494C>G	c.(2494-2496)Cta>Gta	p.L832V	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	832					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)		AGCAAAGGTAGAGTCGTCTCA	0.403													18	26					0	0	1	0	0	C	135251526	G	C	135251526	3	2	58	1	0	0	0	0	1	0	0	0	16780	933	33	5	227	5	TTF1	9	135251526	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	54842038	135251526	5961905	9	1056											
IFIT3	3437	broad.mit.edu	37	chr10	91099758	91099758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgcctgctaagggatgCcccttcaggcataggcagta	8	7	14	12	1	1	0	1	0	0	0	1	1	1	1	4	4	2	4	4	4	3	4			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:91099758C>T	ENST00000371818.4	+	2	1526	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	449					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTAAGGGATGCCCCTTCAGGC	0.498													3	38					0	0	1	0	0	T	91099758	C	T	91099758	3	4	58	1	0	0	0	0	1	0	0	0	7568	739	26	2	1361	2	IFIT3	10	91099758	Missense_Mutation	SNP	C	TCGA-VD-AA8Q-01A-11D-A39W-08		91099758	44434989	10	1057											
DEAF1	10522	broad.mit.edu	37	chr11	679783	679783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcaaaggtcagtgcccccGaggtcgtgatctgtcccgag	7	8	14	12	3	3	1	2	1	1	0	5	3	4	1	3	3	1	0	3	3	1	0			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr11:679783G>A	ENST00000382409.3	-	8	1515	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	344					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)		CAGTGCCCCCGAGGTCGTGAT	0.652													7	13					0	0	1	0	0	A	679783	G	A	679783	3	1	58	1	0	0	0	0	1	0	0	0	4403	1059	37	1	686	1	DEAF1	11	679783	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		679783	134326733	11	1058											
RARG	5916	broad.mit.edu	37	chr12	53606945	53606945	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagggctggctgggccgccgGcgccgggcgtacagcctcag	4	5	18	14	5	1	0	1	0	0	0	1	0	1	0	4	5	2	3	4	5	2	2			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr12:53606945G>C	ENST00000425354.2	-	9	1588	c.1101C>G	c.(1099-1101)cgC>cgG	p.R367R	RARG_ENST00000327550.3_Silent_p.R295R|RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000394426.1_Silent_p.R367R|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	367	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGGCCGCCGGCGCCGGGCGT	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	23					0	0	1	0	0	C	53606945	G	C	53606945	2	2	58	1	0	0	0	0	0	0	0	1	13106	1190	42	5		5	RARG	12	53606945	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		53606945	80244950	12	1059											
CDH24	64403	broad.mit.edu	37	chr14	23522740	23522740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtccaggtcagccgcGgagatctggcctaccagggt	7	6	17	11	2	2	1	1	0	1	1	3	3	3	2	4	6	2	0	4	6	1	1			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr14:23522740G>A	ENST00000397359.3	-	7	1450	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000267383.5_Silent_p.S397S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	397	Cadherin 4.				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)		GGTCAGCCGCGGAGATCTGGC	0.637													14	9					0	0	1	0	0	A	23522740	G	A	23522740	2	1	58	1	0	0	0	0	0	0	0	1	3131	1103	39	1		1	CDH24	14	23522740	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		23522740	83826800	13	1060											
TPSAB1	7177	broad.mit.edu	37	chr16	1291302	1291302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccacccccagtgggtgctGaccgcagcgcactgcgtggg	6	6	14	15	3	0	1	0	1	0	0	1	1	1	1	4	2	3	3	4	2	0	0			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:1291302G>A	ENST00000461509.2	+	2	425	c.231G>A	c.(229-231)ctG>ctA	p.L77L	TPSAB1_ENST00000338844.3_Silent_p.L70L			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	70	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.L70L(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGTGGGTGCTGACCGCAGCGC	0.706													5	44					0	0	1	0	0	A	1291302	G	A	1291302	2	1	58	1	0	0	0	0	0	0	0	1	16484	1277	45	3		3	TPSAB1	16	1291302	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		1291302	89063451	14	1061											
SRRM2	23524	broad.mit.edu	37	chr16	2818118	2818118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagccagcaaaggagcGgcggagttcctcctcgtcgt	7	7	13	14	4	0	0	0	0	0	0	4	2	2	2	4	3	4	3	4	3	1	1			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:2818118G>A	ENST00000301740.8	+	11	8138	c.7589G>A	c.(7588-7590)cGg>cAg	p.R2530Q	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2530	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R2530Q(1)		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						GCAAAGGAGCGGCGGAGTtcc	0.632													15	13					0	0	1	0	0	A	2818118	G	A	2818118	3	1	58	1	0	0	0	0	1	0	0	0	15225	1116	39	1	7627	1	SRRM2	16	2818118	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	1526816	2818118	87536635	15	1062											
EFCAB5	374786	broad.mit.edu	37	chr17	28270612	28270612	+	Frame_Shift_Del	DEL	A	A	-																															agtgtgccagacgttcctgtAaaagaggacaccaacagtgt																										TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:28270612delA	ENST00000394835.3	+	3	327	c.135delA	c.(133-135)gtafs	p.V45fs	EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	45							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						ACGTTCCTGTAAAAGAGGACA	0.368													2	4	---	---	---	---						-	28270612	A	-	28270612	7	5	58	1	0	1	0	1	0	0	0	0	4964	349	13	0	145	0	EFCAB5	17	28270612	Frame_Shift_Del	DEL	A	TCGA-VD-AA8Q-01A-11D-A39W-08		28270612	52924598	16	1063											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389143	39389143	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactgctgccagccctgctgCcgcccagcctgctgtgagac	6	7	11	17	1	0	1	0	1	0	1	0	2	0	1	5	0	8	3	5	0	1	0			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:39389143C>G	ENST00000411528.2	+	1	429	c.390C>G	c.(388-390)tgC>tgG	p.C130W		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	130	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)			AGCCCTGCTGCCGCCCAGCCT	0.582													29	15					0	0	1	0	0	G	39389143	C	G	39389143	3	3	58	1	0	0	0	0	1	0	0	0	8613	747	26	5	392	5	KRTAP9-3	17	39389143	Missense_Mutation	SNP	C	TCGA-VD-AA8Q-01A-11D-A39W-08	11118531	39389143	41806067	17	1064											
HOXB5	3215	broad.mit.edu	37	chr17	46670514	46670514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagcttcctcatccagggGaatatttgcggagtctgccc	8	11	11	11	1	2	1	1	1	1	0	4	3	4	3	3	3	3	1	3	3	3	3			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46670514G>T	ENST00000239151.5	-	1	809	c.531C>A	c.(529-531)ttC>ttA	p.F177L	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	177						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TCATCCAGGGGAATATTTGCG	0.597													7	29					0.000442599	0.000442599	1	1	0	T	46670514	G	T	46670514	3	4	58	1	0	0	0	0	1	0	0	0	7345	1165	41	5	286	5	HOXB5	17	46670514	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	7281371	46670514	34524696	18	1065											
HOXB8	3218	broad.mit.edu	37	chr17	46691904	46691904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcccgtggtagaactcctGgatttgcgacgggtgctgga	6	9	16	10	4	0	1	0	0	0	1	1	4	1	3	2	5	3	2	2	5	2	2			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46691904G>C	ENST00000239144.4	-	1	397	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	55						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TAGAACTCCTGGATTTGCGAC	0.662													6	10					0	0	1	0	0	C	46691904	G	C	46691904	3	2	58	1	0	0	0	0	1	0	0	0	7348	1357	47	5	576	5	HOXB8	17	46691904	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	21390	46691904	34503306	19	1066											
IGF2BP1	10642	broad.mit.edu	37	chr17	47119660	47119660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactgtgaagggggccaTcgagaattgttgcagggccg	9	8	15	9	2	1	2	1	1	0	1	2	3	1	2	2	3	1	2	2	3	2	2			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:47119660T>C	ENST00000290341.3	+	9	1332	c.998T>C	c.(997-999)aTc>aCc	p.I333T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	333	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGGGGCCATCGAGAATTGT	0.532													6	97					0	0	1	0	0	C	47119660	T	C	47119660	3	2	58	1	0	0	0	0	1	0	0	0	7617	1435	50	4	1032	4	IGF2BP1	17	47119660	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08	427756	47119660	34075550	20	1067											
DNAH17	8632	broad.mit.edu	37	chr17	76421433	76421433	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccctccttaccttccaTgaagagtccgtacacgtagg	10	9	9	13	2	0	3	0	1	0	2	3	3	3	3	5	1	3	2	5	1	4	4			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:76421433T>G	ENST00000389840.5	-	80	13328	c.13204A>C	c.(13204-13206)Atg>Ctg	p.M4402L	DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											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)			TTACCTTCCATGAAGAGTCCG	0.532													30	44					0	0	1	0	0	G	76421433	T	G	76421433	3	3	58	1	0	0	0	0	1	0	0	0	4629	1464	51	5	261	5	DNAH17	17	76421433	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08	29301773	76421433	4773777	21	1068											
SLC16A3	9123	broad.mit.edu	37	chr17	80195168	80195168	+	Frame_Shift_Del	DEL	C	C	-																															cagctgctgcaggaccgctaCggctggcggggcggcttcct																										TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:80195168delC	ENST00000581287.1	+	3	2844	c.522delC	c.(520-522)tacfs	p.Y174fs	SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	174					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	AGGACCGCTACGGCTGGCGGG	0.711													2	4	---	---	---	---						-	80195168	C	-	80195168	7	5	58	1	0	1	0	1	0	0	0	0	14464	547	19	0	532	0	SLC16A3	17	80195168	Frame_Shift_Del	DEL	C	TCGA-VD-AA8Q-01A-11D-A39W-08	3773735	80195168	1000042	22	1069											
ZNF180	7733	broad.mit.edu	37	chr19	44981067	44981067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatacggtttctctccaGtgtgagttctttgatgtgca	7	17	9	8	1	3	2	1	2	2	0	5	2	4	2	1	1	2	3	1	1	1	5			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr19:44981067G>C	ENST00000221327.4	-	5	1912	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTCTCTCCAGTGTGAGTTCT	0.423													31	41					0	0	1	0	0	C	44981067	G	C	44981067	3	2	58	1	0	0	0	0	1	0	0	0	17806	1029	36	5	451	5	ZNF180	19	44981067	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		44981067	14147916	23	1070											
UMODL1	89766	broad.mit.edu	37	chr21	43543127	43543127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtcgccatccagaagcGcttcctgcagcaggaatcca	9	8	11	13	2	0	1	0	0	0	1	4	2	3	2	4	2	3	4	4	2	2	2			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr21:43543127G>A	ENST00000400424.2	+	17	3194	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H|UMODL1_ENST00000408910.2_Missense_Mutation_p.R1005H	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EGF-like 3; calcium-binding (Potential).					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						ATCCAGAAGCGCTTCCTGCAG	0.637													11	21					0	0	1	0	0	A	43543127	G	A	43543127	3	1	58	1	0	0	0	0	1	0	0	0	17040	1087	38	1	3460	1	UMODL1	21	43543127	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		43543127	4586768	24	1071											
ZNF182	7569	broad.mit.edu	37	chrX	47836907	47836907	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgttttctcatactcagtAtggaagaacaattttgcaca	12	16	6	7	0	2	1	2	0	1	1	3	2	2	2	0	1	3	3	0	1	5	7			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chrX:47836907A>G	ENST00000396965.1	-	7	929	c.579T>C	c.(577-579)caT>caC	p.H193H	ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATACTCAGTATGGAAGAACA	0.343													10	9					0	0	1	0	0	G	47836907	A	G	47836907	2	3	58	1	0	0	0	0	0	0	0	1	17808	446	16	4		4	ZNF182	23	47836907	Silent	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		47836907	107433653	25	1072											
LRPPRC	10128	broad.mit.edu	37	chr2	44145165	44145165	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccccgtatgtgcttgccTtttttttggttcaatcggca	5	17	8	11	2	1	0	1	0	0	0	3	0	2	0	3	2	2	4	3	2	2	7			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:44145165T>C	ENST00000260665.7	-	29	3204	c.3147A>G	c.(3145-3147)aaA>aaG	p.K1049K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1049					mitochondrion transport along microtubule|mRNA transport|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	beta-tubulin binding|microtubule binding|RNA 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)				TGTGCTTGCCTTTTTTTTGGT	0.453													17	21					0	0	1	0	0	C	44145165	T	C	44145165	5	2	59	1	0	0	0	0	0	0	1	0	9010	1623	56	4	1077	4	LRPPRC	2	44145165	Splice_Site	SNP	T	TCGA-VD-AA8R-01A-11D-A39W-08		44145165	199054208	1	1073											
GLI2	2736	broad.mit.edu	37	chr2	121748132	121748132	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgcctcaccacccccCgaaactccttgaccctgccc	6	6	4	25	2	1	1	1	1	0	0	3	2	3	1	10	0	2	0	10	0	1	1			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:121748132C>T	ENST00000452319.1	+	14	4702	c.4642C>T	c.(4642-4644)Cga>Tga	p.R1548*	GLI2_ENST00000361492.4_Nonsense_Mutation_p.R1548*|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1548					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)				CACCACCCCCCGAAACTCCTT	0.617													57	84					0	0	1	0	0	T	121748132	C	T	121748132	4	4	59	1	0	0	0	0	0	1	0	0	6480	644	23	1	4692	1	GLI2	2	121748132	Nonsense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08	77602967	121748132	121451241	2	1074											
ATF2	1386	broad.mit.edu	37	chr2	175945425	175945425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgcatggcggttacaggGcaatctttatgagccagaag	10	11	12	8	1	2	2	0	1	2	1	2	2	2	2	1	3	3	3	1	3	4	4			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:175945425G>A	ENST00000264110.2	-	13	1552	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	ATF2_ENST00000409437.1_Silent_p.C302C|ATF2_ENST00000392543.2_Silent_p.C39C|ATF2_ENST00000426833.3_Silent_p.C400C|ATF2_ENST00000409499.1_Silent_p.C57C|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Silent_p.C360C|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000392544.1_Silent_p.C418C|ATF2_ENST00000409635.1_Silent_p.C360C	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	418					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CGGTTACAGGGCAATCTTTAT	0.443													4	131					0	0	1	0	0	A	175945425	G	A	175945425	2	1	59	1	0	0	0	0	0	0	0	1	1079	1195	42	2		2	ATF2	2	175945425	Silent	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08	54197293	175945425	67253948	3	1075											
RAI14	26064	broad.mit.edu	37	chr5	34823886	34823886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcaataaacaggtgagcGagctgtcacagctgtacaaa	16	7	9	9	1	2	1	2	1	0	0	2	2	2	1	0	1	6	3	0	1	6	2			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr5:34823886G>A	ENST00000265109.3	+	15	2226	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	RAI14_ENST00000506376.1_Missense_Mutation_p.E639K|RAI14_ENST00000512629.1_Missense_Mutation_p.E618K|RAI14_ENST00000503673.1_Missense_Mutation_p.E647K|RAI14_ENST00000397449.1_Missense_Mutation_p.E640K|RAI14_ENST00000428746.2_Missense_Mutation_p.E647K|RAI14_ENST00000515799.1_Missense_Mutation_p.E650K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	647						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)					ACAGGTGAGCGAGCTGTCACA	0.443													19	23					0	0	1	0	0	A	34823886	G	A	34823886	3	1	59	1	0	0	0	0	1	0	0	0	13060	1059	37	1	2058	1	RAI14	5	34823886	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08		34823886	146091374	4	1076											
BICC1	80114	broad.mit.edu	37	chr10	60549448	60549448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttttctcttaggaaggaActgccatgctgttagaacat	10	13	8	10	0	1	1	0	0	1	1	2	3	1	3	2	2	4	2	2	2	5	4			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr10:60549448A>G	ENST00000373886.3	+	8	806	c.802A>G	c.(802-804)Act>Gct	p.T268A		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	268					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						TTAGGAAGGAACTGCCATGCT	0.393													67	78					0	0	1	0	0	G	60549448	A	G	60549448	3	3	59	1	0	0	0	0	1	0	0	0	1426	43	2	4	832	4	BICC1	10	60549448	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		60549448	74985299	5	1077											
KNDC1	85442	broad.mit.edu	37	chr10	135020364	135020364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccacccacaggttcCgacgtcaagaccatgctgtc	8	9	8	16	2	2	1	1	0	1	1	5	2	4	1	4	1	2	3	4	1	1	1			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr10:135020364C>T	ENST00000304613.3	+	19	3507	c.3486C>T	c.(3484-3486)tcC>tcT	p.S1162S	KNDC1_ENST00000368572.2_Silent_p.S1164S|KNDC1_ENST00000368571.2_Silent_p.S1097S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1162					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACAGGTTCCGACGTCAAGA	0.567													7	89					0	0	1	0	0	T	135020364	C	T	135020364	2	4	59	1	0	0	0	0	0	0	0	1	8469	639	23	1		1	KNDC1	10	135020364	Silent	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08	74470916	135020364	514383	6	1078											
GNB3	2784	broad.mit.edu	37	chr12	6953033	6953033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtgtctcctgacttcaAtctcttcatttcgggggcct	4	15	10	12	1	4	1	2	1	2	0	7	1	4	1	2	3	0	1	2	3	1	3			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr12:6953033A>G	ENST00000229264.3	+	9	995	c.590A>G	c.(589-591)aAt>aGt	p.N197S	GNB3_ENST00000435982.2_Missense_Mutation_p.N196S	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	197					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCTGACTTCAATCTCTTCATT	0.562													25	34					0	0	1	0	0	G	6953033	A	G	6953033	3	3	59	1	0	0	0	0	1	0	0	0	6561	101	4	4	616	4	GNB3	12	6953033	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		6953033	126898862	7	1079											
MYH2	4620	broad.mit.edu	37	chr17	10426880	10426880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcagcctcatccagaCggagctgcagatccttcacg	8	8	10	15	2	3	2	3	0	0	2	5	3	5	3	3	1	4	4	3	1	0	1			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr17:10426880C>T	ENST00000245503.5	-	37	5789	c.5405G>A	c.(5404-5406)cGt>cAt	p.R1802H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1802H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1802					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						CTCATCCAGACGGAGCTGCAG	0.572													46	55					0	0	1	0	0	T	10426880	C	T	10426880	3	4	59	1	0	0	0	0	1	0	0	0	10083	536	19	1	436	1	MYH2	17	10426880	Missense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		10426880	70768330	8	1080											
SGTA	6449	broad.mit.edu	37	chr19	2759273	2759273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctgctgaatctggggaTtgttcattaggttcgaagcc	9	12	12	8	1	2	1	1	1	1	0	3	3	2	2	1	3	3	4	1	3	3	4			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:2759273T>C	ENST00000221566.2	-	9	880	c.719A>G	c.(718-720)aAt>aGt	p.N240S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	240					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		AATCTGGGGATTGTTCATTAG	0.403													5	190					0	0	1	0	0	C	2759273	T	C	2759273	3	2	59	1	0	0	0	0	1	0	0	0	14279	1493	52	4	234	4	SGTA	19	2759273	Missense_Mutation	SNP	T	TCGA-VD-AA8R-01A-11D-A39W-08		2759273	56369710	9	1081											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								25	28					0	0	1	0	0	T	3118942	A	T	3118942	3	4	59	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08	359669	3118942	56010041	10	1082											
RYR1	6261	broad.mit.edu	37	chr19	38983214	38983214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgttggagaaagtgcGgctggtgaagaagaaggaag	13	6	18	4	1	0	4	0	1	0	3	0	7	0	5	1	4	2	2	1	4	5	1	rs139775280		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:38983214G>A	ENST00000355481.4	+	38	6343	c.6212G>A	c.(6211-6213)cGg>cAg	p.R2071Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R2071Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2071Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2071	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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.R2071L(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)	GAGAAAGTGCGGCTGGTGAAG	0.592													12	21					0	0	1	0	0	A	38983214	G	A	38983214	3	1	59	1	0	0	0	0	1	0	0	0	13820	1116	39	1	6362	1	RYR1	19	38983214	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08	35864272	38983214	20145769	11	1083											
ZNF780A	284323	broad.mit.edu	37	chr19	40581890	40581890	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaataagagaagcatgAggagtatgagtaggcagttt	15	10	13	3	0	0	3	0	2	0	1	0	5	0	4	0	2	2	6	0	2	5	5			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:40581890A>G	ENST00000450241.2	-	6	668	c.357T>C	c.(355-357)ccT>ccC	p.P119P	ZNF780A_ENST00000455521.1_Silent_p.P154P|ZNF780A_ENST00000594395.1_Silent_p.P154P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.P153P|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.P153P			O75290	Z780A_HUMAN	zinc finger protein 780A	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGAAGCATGAGGAGTATGAG	0.353													3	50					0	0	1	0	0	G	40581890	A	G	40581890	2	3	59	1	0	0	0	0	0	0	0	1	18201	291	11	4		4	ZNF780A	19	40581890	Silent	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08	1598676	40581890	18547093	12	1084											
GTSE1	51512	broad.mit.edu	37	chr22	46704545	46704545	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaaaaggaaatgaagaAaagccccacgtctcttaaaa	21	5	8	7	1	1	3	0	1	1	2	2	5	1	4	2	1	1	0	2	1	9	1			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr22:46704545A>C	ENST00000454366.1	+	4	679	c.467A>C	c.(466-468)aAa>aCa	p.K156T		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	137					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GAAATGAAGAAAAGCCCCACG	0.532													32	39					0	0	1	0	0	C	46704545	A	C	46704545	3	2	59	1	0	0	0	0	1	0	0	0	6926	14	1	5	477	5	GTSE1	22	46704545	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		46704545	4600021	13	1085											
EIF1AX	1964	broad.mit.edu	37	chrX	20156740	20156740	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgtttttacctcctttaCctgatggtttaaaaaaaaga	12	16	6	7	0	1	2	0	1	1	1	2	2	2	2	3	1	2	2	3	1	6	7			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chrX:20156740C>T	ENST00000379607.5	-	2	220	c.17G>A	c.(16-18)gGt>gAt	p.G6D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	6						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ACCTCCTTTACCTGATGGTTT	0.299													34	4					0	0	1	0	0	T	20156740	C	T	20156740	5	4	59	1	0	0	0	0	0	0	1	0	5018	521	18	3	441	3	EIF1AX	23	20156740	Splice_Site	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		20156740	135113820	14	1086											
MACF1	23499	broad.mit.edu	37	chr1	39853083	39853083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtgattgtggctgaaGgggaatctctacttctttct	8	15	12	6	0	3	3	0	3	3	0	4	4	3	4	0	4	1	1	0	4	3	4			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:39853083G>A	ENST00000564288.1	+	58	15346	c.14569G>A	c.(14569-14571)Ggg>Agg	p.G4857R	MACF1_ENST00000545844.1_Missense_Mutation_p.G2795R|MACF1_ENST00000539005.1_Missense_Mutation_p.G2774R|MACF1_ENST00000372915.3_Missense_Mutation_p.G4862R|MACF1_ENST00000361689.2_Missense_Mutation_p.G2795R|MACF1_ENST00000317713.7_Missense_Mutation_p.G2795R|MACF1_ENST00000567887.1_Missense_Mutation_p.G4894R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3297R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4862					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|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)			TGTGGCTGAAGGGGAATCTCT	0.428													45	55					0	0	1	0	0	A	39853083	G	A	39853083	3	1	60	1	0	0	0	0	1	0	0	0	9190	1000	35	3	14744	3	MACF1	1	39853083	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		39853083	209397538	1	1087											
ITPR1	3708	broad.mit.edu	37	chr3	4725409	4725409	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaaaagtcagagctttGggtgtacaaagggcagggcc	11	7	16	7	1	1	1	1	0	0	1	1	2	1	2	1	4	2	3	1	4	4	2			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr3:4725409G>A	ENST00000354582.6	+	28	3775	c.3425G>A	c.(3424-3426)tGg>tAg	p.W1142*	ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W1118*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1142					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)		TCAGAGCTTTGGGTGTACAAA	0.463													16	12					0	0	1	0	0	A	4725409	G	A	4725409	4	1	60	1	0	0	0	0	0	1	0	0	7964	1357	47	3	3527	3	ITPR1	3	4725409	Nonsense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		4725409	193297021	2	1088											
PCDHA6	0	broad.mit.edu	37	chr5	140209783	140209783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgtgtacctgatcatcGccatctgcgcggtatccagc	8	10	9	14	4	3	1	2	1	1	0	5	1	4	1	3	1	4	2	3	1	3	2			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:140209783G>A	ENST00000529310.1	+	1	2221	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.687													3	57					0	0	1	0	0	A	140209783	G	A	140209783	3	1	60	1	0	0	0	0	1	0	0	0	11575	1087	38	1	2109	1	PCDHA6	5	140209783	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		140209783	40705477	3	1089											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								48	27					0	0	1	0	0	G	80409488	T	G	80409488	3	3	60	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-AA8S-01B-11D-A39W-08		80409488	60803943	4	1090											
ACTL7B	10880	broad.mit.edu	37	chr9	111617426	111617426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcgggcaggaaggccGcatagcagcacttcttcttg	7	9	11	14	2	2	0	0	0	2	0	4	1	3	1	3	3	2	4	3	3	2	4			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:111617426G>A	ENST00000374667.3	-	1	1813	c.785C>T	c.(784-786)gCg>gTg	p.A262V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	262						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGAAGGCCGCATAGCAGCA	0.612													3	49					0	0	1	0	0	A	111617426	G	A	111617426	3	1	60	1	0	0	0	0	1	0	0	0	201	1087	38	1	466	1	ACTL7B	9	111617426	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08	31207938	111617426	29596005	5	1091											
KCNK13	56659	broad.mit.edu	37	chr14	90651142	90651142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacacggacgggcgccGgctctcaggggagatgatct	8	6	17	10	4	2	3	1	2	2	1	3	6	2	4	1	5	0	1	1	5	0	0			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:90651142G>A	ENST00000282146.4	+	2	1463	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	341						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GACGGGCGCCGGCTCTCAGGG	0.612													12	25					0	0	1	0	0	A	90651142	G	A	90651142	3	1	60	1	0	0	0	0	1	0	0	0	8105	1116	39	1	1028	1	KCNK13	14	90651142	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		90651142	16698398	6	1092											
SERPINA9	327657	broad.mit.edu	37	chr14	94935951	94935951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagcatggccagggaagtgGagacactcacaggggagaag	14	3	17	7	0	1	3	1	0	0	3	1	6	1	4	1	5	1	1	1	5	2	0			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:94935951G>A	ENST00000337425.5	-	2	355	c.281C>T	c.(280-282)tCc>tTc	p.S94F	SERPINA9_ENST00000380365.3_Missense_Mutation_p.S76F|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S58F|SERPINA9_ENST00000298845.7_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	76					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)		CAGGGAAGTGGAGACACTCAC	0.577													19	24					0	0	1	0	0	A	94935951	G	A	94935951	3	1	60	1	0	0	0	0	1	0	0	0	14149	1174	41	3	1042	3	SERPINA9	14	94935951	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08	4284809	94935951	12413589	7	1093											
KIF26A	26153	broad.mit.edu	37	chr14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-																															agctgtggccgcccccggcgCccccctgcctgctcagggcc																										TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:104633326delC	ENST00000315264.7	+	4	1015	c.637delC	c.(637-639)cccfs	p.P214fs	KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P353fs			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	353					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	p.C354fs*19(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCCCCGGCGCCCCCCTGCCT	0.731													2	4	---	---	---	---						-	104633326	C	-	104633326	7	5	60	1	0	1	0	1	0	0	0	0	8336	739	26	0	1072	0	KIF26A	14	104633326	Frame_Shift_Del	DEL	C	TCGA-VD-AA8S-01B-11D-A39W-08	9697375	104633326	2716214	8	1094											
SOCS7	30837	broad.mit.edu	37	chr17	36508157	36508159	+	In_Frame_Del	DEL	GGA	GGA	-																															cgcaacgtgggtcggccgccGgaggaggaggacgtggaggc																										TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr17:36508157_36508159delGGA	ENST00000577233.1	+	1	30_32	c.30_32delGGA	c.(28-33)ccggag>ccg	p.E13del	SOCS7_ENST00000331159.5_In_Frame_Del_p.E13del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	13					intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTCGGCCGCCGGAGGAGGAGGAC	0.788													2	4	---	---	---	---						-	36508159	GGA	-	36508157	7	5	60	1	0	1	0	1	0	0	0	0	14973	1103	39	0	32	0	SOCS7	17	36508157	In_Frame_Del	DEL	GGA	TCGA-VD-AA8S-01B-11D-A39W-08		36508157	44687053	9	1095											
TAS1R2	80834	broad.mit.edu	37	chr1	19180971	19180971	+	Frame_Shift_Del	DEL	G	G	-																															aactcactgaagcccgggatGggcacgctctggatggtgat																										TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:19180971delG	ENST00000375371.3	-	3	1014	c.993delC	c.(991-993)cccfs	p.P331fs	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	331					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)	AGCCCGGGATGGGCACGCTCT	0.667													2	4	---	---	---	---						-	19180971	G	-	19180971	7	5	61	1	0	1	0	1	0	0	0	0	15620	1335	47	0	1542	0	TAS1R2	1	19180971	Frame_Shift_Del	DEL	G	TCGA-VD-AA8T-01A-11D-A39W-08		19180971	230069650	1	1096											
IL24	11009	broad.mit.edu	37	chr1	207073691	207073691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcaggaggttctgCagaacgtctcggtaatcaga	10	9	13	9	2	3	2	1	0	2	2	4	3	3	3	0	3	5	6	0	3	2	2			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:207073691C>T	ENST00000367093.3	+	4	569	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	IL24_ENST00000294984.2_Nonsense_Mutation_p.Q98*|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000491169.1_3'UTR	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	98					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGAGGTTCTGCAGAACGTCTC	0.552													23	25					0	0	1	0	0	T	207073691	C	T	207073691	4	4	61	1	0	0	0	0	0	1	0	0	7721	720	25	2	305	2	IL24	1	207073691	Nonsense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	187892720	207073691	42176930	2	1097											
BAP1	8314	broad.mit.edu	37	chr3	52437669	52437670	+	Frame_Shift_Ins	INS	-	-	A																															ttgaaagcactgccgatctcINSagaggccgtgtctgtactct																										TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr3:52437669_52437670insA	ENST00000460680.1	-	13	1962_1963	c.1491_1492insT	c.(1489-1494)tctgagfs	p.E498fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	498					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		CTGCCGATCTCAGAGGCCGTGT	0.644			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							11	1	---	---	---	---						A	52437670	-	A	52437669	7	5	61	1	0	1	1	0	0	0	0	0	1309	835	29	0	717	0	BAP1	3	52437669	Frame_Shift_Ins	INS	-	TCGA-VD-AA8T-01A-11D-A39W-08		52437669	145584761	3	1098											
GRM6	2916	broad.mit.edu	37	chr5	178410055	178410055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggcgtacactgtgcaCgtgaccatgagcaggaggct	9	9	14	9	2	0	3	0	3	0	0	0	4	0	4	1	3	3	4	1	3	1	2			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr5:178410055C>T	ENST00000231188.5	-	9	2470	c.2292G>A	c.(2290-2292)acG>acA	p.T764T	GRM6_ENST00000517717.1_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764					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)		ACACTGTGCACGTGACCATGA	0.627													25	27					0	0	1	0	0	T	178410055	C	T	178410055	2	4	61	1	0	0	0	0	0	0	0	1	6842	523	19	1		1	GRM6	5	178410055	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		178410055	2505205	4	1099											
DOPEY1	23033	broad.mit.edu	37	chr6	83868338	83868338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgctgatgaagatatttCacggtaatatgtaatttaaa	15	14	7	5	1	1	3	1	2	0	1	1	3	1	3	0	1	1	3	0	1	7	7			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr6:83868338C>T	ENST00000349129.2	+	36	7054	c.6794C>T	c.(6793-6795)tCa>tTa	p.S2265L	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2265					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATATTTCACGGTAATAT	0.284													14	16					0	0	1	0	0	T	83868338	C	T	83868338	3	4	61	1	0	0	0	0	1	0	0	0	4734	838	29	3	6928	3	DOPEY1	6	83868338	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		83868338	87246729	5	1100											
PPP2R2A	5520	broad.mit.edu	37	chr8	26212088	26212088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttagaaatagaagaaaaGatcaacaaaattaggtggtt	20	10	9	2	0	1	4	1	0	0	4	1	4	1	4	0	2	1	2	0	2	10	5			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr8:26212088G>C	ENST00000380737.3	+	4	614	c.285G>C	c.(283-285)aaG>aaC	p.K95N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGAAAAGATCAACAAAA	0.368													26	77					0	0	1	0	0	C	26212088	G	C	26212088	3	2	61	1	0	0	0	0	1	0	0	0	12433	933	33	5	340	5	PPP2R2A	8	26212088	Missense_Mutation	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		26212088	120151934	6	1101											
PTPN3	0	broad.mit.edu	37	chr9	112195403	112195403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtacacagcaacacccgcGgaagcaattccaatcattag	14	6	8	13	3	1	0	1	0	0	0	2	1	2	1	2	2	4	3	2	2	6	3			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr9:112195403G>A	ENST00000412145.1	-	5	2874	c.321C>T	c.(319-321)tcC>tcT	p.S107S	PTPN3_ENST00000262539.3_Silent_p.S129S|PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000374541.2_Silent_p.S238S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	238	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAACACCCGCGGAAGCAATTC	0.393													3	62					0	0	1	0	0	A	112195403	G	A	112195403	2	1	61	1	0	0	0	0	0	0	0	1	12841	1103	39	1		1	PTPN3	9	112195403	Silent	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		112195403	29018028	7	1102											
AMICA1	120425	broad.mit.edu	37	chr11	118071314	118071314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggcctcagggctgcCggggtcaccagtgcttggga	7	6	16	12	1	2	1	2	0	0	1	2	2	2	2	4	5	2	2	4	5	0	1			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr11:118071314C>T	ENST00000292067.7	-	6	1197	c.756G>A	c.(754-756)ccG>ccA	p.P252P	AMICA1_ENST00000356289.5_Silent_p.P262P|AMICA1_ENST00000533261.1_Silent_p.P251P|AMICA1_ENST00000526620.1_Silent_p.P223P	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262					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)		TCAGGGCTGCCGGGGTCACCA	0.522													16	17					0	0	1	0	0	T	118071314	C	T	118071314	2	4	61	1	0	0	0	0	0	0	0	1	570	639	23	1		1	AMICA1	11	118071314	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		118071314	16935202	8	1103											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													6	33					0	0	1	0	0	C	3649787	T	C	3649787	3	2	61	1	0	0	0	0	1	0	0	0	12594	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		3649787	130202108	9	1104											
TPCN1	53373	broad.mit.edu	37	chr12	113664727	113664727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtggcagtgccccactgGctccctccaacggcctgggc	5	6	14	16	1	0	0	0	0	0	0	2	0	2	0	5	5	2	2	5	5	1	0			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:113664727G>T	ENST00000550785.1	+	3	455	c.286G>T	c.(286-288)Gct>Tct	p.A96S	TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000335509.6_Missense_Mutation_p.A24S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	24						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCCCCACTGGCTCCCTCCAA	0.582													8	17					2.17888e-05	2.17888e-05	1	1	0	T	113664727	G	T	113664727	3	4	61	1	0	0	0	0	1	0	0	0	16456	1203	42	5	292	5	TPCN1	12	113664727	Missense_Mutation	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08	110014940	113664727	20187168	10	1105											
ADAM21	8747	broad.mit.edu	37	chr14	70925884	70925884	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctaaaatgtcatatctcTgatgtcttttgtgggagagt	10	16	9	6	0	3	2	1	1	2	1	4	3	3	2	1	1	1	0	1	1	4	5			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr14:70925884T>C	ENST00000603540.1	+	2	1926	c.1668T>C	c.(1666-1668)tcT>tcC	p.S556S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	556	Cys-rich.				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)		GTCATATCTCTGATGTCTTTT	0.383													25	26					0	0	1	0	0	C	70925884	T	C	70925884	2	2	61	1	0	0	0	0	0	0	0	1	242	1567	55	4		4	ADAM21	14	70925884	Silent	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		70925884	36423656	11	1106											
MYH11	4629	broad.mit.edu	37	chr16	15814858	15814860	+	In_Frame_Del	DEL	CTC	CTC	-																															tcttccagctgcgtcttcatCtcctccatctgggtctccag																										TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:15814858_15814860delCTC	ENST00000452625.2	-	34	4735_4737	c.4648_4650delGAG	c.(4648-4650)gagdel	p.E1550del	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del|MYH11_ENST00000300036.5_In_Frame_Del_p.E1543del|NDE1_ENST00000396354.1_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1543					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTCTTCATCTCCTCCATCTGG	0.611			T	CBFB	AML								26	65	---	---	---	---						-	15814860	CTC	-	15814858	7	5	61	1	0	1	0	1	0	0	0	0	10079	912	32	0	1360	0	MYH11	16	15814858	In_Frame_Del	DEL	CTC	TCGA-VD-AA8T-01A-11D-A39W-08		15814858	74539895	12	1107											
FOXL1	2300	broad.mit.edu	37	chr16	86612675	86612675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccccgcgagaaagggCggccgggcaagggcagctac	9	2	18	12	4	0	1	0	0	0	1	0	2	0	1	3	5	3	3	3	5	3	1			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:86612675C>T	ENST00000320241.3	+	1	561	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	116					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGAGAAAGGGCGGCCGGGCAA	0.657													4	91					0	0	1	0	0	T	86612675	C	T	86612675	3	4	61	1	0	0	0	0	1	0	0	0	6050	759	27	1	348	1	FOXL1	16	86612675	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	70797817	86612675	3742078	13	1108											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								21	33					0	0	1	0	0	T	3118942	A	T	3118942	3	4	61	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8T-01A-11D-A39W-08		3118942	56010041	14	1109											
RYR1	6261	broad.mit.edu	37	chr19	38979906	38979906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaagaggaggaggaCgaggaggaagagggtgaaga	17	1	22	1	1	0	5	0	1	0	4	0	13	0	11	0	7	0	0	0	7	4	0	rs143418190	byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:38979906C>T	ENST00000355481.4	+	35	5768	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D	RYR1_ENST00000359596.3_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1879	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	aggaggaggacgaggaggaag	0.498													11	13					0	0	1	0	0	T	38979906	C	T	38979906	2	4	61	1	0	0	0	0	0	0	0	1	13820	535	19	1		1	RYR1	19	38979906	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	35860964	38979906	20149077	15	1110											
FCGRT	2217	broad.mit.edu	37	chr19	50028774	50028774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggtgtcttgctactcaCggcagcggctgtaggaggag	7	9	15	10	3	2	0	1	0	1	0	3	2	2	2	0	5	3	4	0	5	2	3			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:50028774C>T	ENST00000221466.5	+	6	1418	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	311					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	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)		TTGCTACTCACGGCAGCGGCT	0.612													18	35					0	0	1	0	0	T	50028774	C	T	50028774	3	4	61	1	0	0	0	0	1	0	0	0	5819	536	19	1	950	1	FCGRT	19	50028774	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	11048868	50028774	9100209	16	1111											
ZNF836	162962	broad.mit.edu	37	chr19	52659256	52659256	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtaattgaagaccttGccacacacattacatttgta	13	12	5	11	0	0	2	0	1	0	1	0	2	0	2	3	0	2	2	3	0	4	6			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:52659256G>C	ENST00000322146.8	-	5	2201	c.1680C>G	c.(1678-1680)ggC>ggG	p.G560G	ZNF836_ENST00000597252.1_Silent_p.G560G|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGACCTTGCCACACACAT	0.383													54	106					0	0	1	0	0	C	52659256	G	C	52659256	2	2	61	1	0	0	0	0	0	0	0	1	18234	1306	46	5		5	ZNF836	19	52659256	Silent	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08	2630482	52659256	6469727	17	1112											
RRBP1	6238	broad.mit.edu	37	chr20	17639295	17639295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggcaggagcctcttgctTtggtgcctctgggctctggg	2	13	15	11	0	3	0	0	0	3	0	3	1	3	1	2	5	3	3	2	5	0	3			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:17639295T>C	ENST00000377813.1	-	3	2161	c.1858A>G	c.(1858-1860)Aag>Gag	p.K620E	RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	620					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						GCCTCTTGCTTTGGTGCCTCT	0.473													45	67					0	0	1	0	0	C	17639295	T	C	17639295	3	2	61	1	0	0	0	0	1	0	0	0	13730	1850	64	4	2457	4	RRBP1	20	17639295	Missense_Mutation	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		17639295	45386225	18	1113											
HIAT1	64645	broad.mit.edu	37	chr1	100503800	100503802	+	In_Frame_Del	DEL	GAA	GAA	-																															gatggtaaaatgacccagggGaagaagaagaaacgggccgc																										TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:100503800_100503802delGAA	ENST00000370152.3	+	1	148_150	c.12_14delGAA	c.(10-15)gggaag>ggg	p.K8del		NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	8	Poly-Lys.				transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGACCCAGGGGAAGAAGAAGAAA	0.635													2	4	---	---	---	---						-	100503802	GAA	-	100503800	7	5	62	1	0	1	0	1	0	0	0	0	7138	1161	41	0	14	0	HIAT1	1	100503800	In_Frame_Del	DEL	GAA	TCGA-WC-A87T-01A-11D-A39W-08		100503800	148746821	1	1114											
SMG7	9887	broad.mit.edu	37	chr1	183502394	183502394	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcgtgactttagcaaTgaaaccgagcagcacactta	13	9	7	12	2	0	2	0	2	0	0	1	3	0	2	2	0	4	3	2	0	4	4			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:183502394T>G	ENST00000367537.3	+	10	1221	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K|SMG7_ENST00000347615.2_Missense_Mutation_p.N313K|SMG7_ENST00000456731.2_Missense_Mutation_p.N271K			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	313					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						ACTTTAGCAATGAAACCGAGC	0.418													5	195					0	0	1	0	0	G	183502394	T	G	183502394	3	3	62	1	0	0	0	0	1	0	0	0	14852	1461	51	5	973	5	SMG7	1	183502394	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08	82998594	183502394	65748227	2	1115											
ZNF281	23528	broad.mit.edu	37	chr1	200377456	200377456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaattttggcaccctctTctgcagttcatctattccag	8	15	6	12	0	5	0	2	0	3	0	6	1	6	0	2	1	1	3	2	1	2	6			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:200377456T>C	ENST00000294740.3	-	2	1502	c.1378A>G	c.(1378-1380)Aag>Gag	p.K460E	ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCACCCTCTTCTGCAGTTCA	0.378													25	31					0	0	1	0	0	C	200377456	T	C	200377456	3	2	62	1	0	0	0	0	1	0	0	0	17876	1792	62	4	1313	4	ZNF281	1	200377456	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08	16875062	200377456	48873165	3	1116											
LMOD3	56203	broad.mit.edu	37	chr3	69168367	69168367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaccattctgggacccGgaagctcaaaatggtagccc	11	7	10	13	1	2	1	1	1	1	0	2	3	2	3	4	3	2	2	4	3	4	2			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr3:69168367G>A	ENST00000420581.2	-	2	1318	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380						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)		TCTGGGACCCGGAAGCTCAAA	0.473													8	69					0	0	1	0	0	A	69168367	G	A	69168367	3	1	62	1	0	0	0	0	1	0	0	0	8899	1116	39	1	551	1	LMOD3	3	69168367	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		69168367	128854063	4	1117											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								33	35					0	0	1	0	0	G	80409488	T	G	80409488	3	3	62	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08		80409488	60803943	5	1118											
CYP2C8	1558	broad.mit.edu	37	chr10	96798695	96798695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcacttttcttaaagttgCcattcttatctagaaagtgg	11	16	7	7	0	4	1	1	0	3	1	4	1	4	1	1	1	1	1	1	1	5	7	rs141209951	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr10:96798695C>T	ENST00000371270.3	-	8	1344	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	417					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)	CTTAAAGTTGCCATTCTTATC	0.368													4	63					0	0	1	0	0	T	96798695	C	T	96798695	3	4	62	1	0	0	0	0	1	0	0	0	4190	739	26	2	230	2	CYP2C8	10	96798695	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		96798695	38736052	6	1119											
B3GAT3	26229	broad.mit.edu	37	chr11	62389419	62389419	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcagcttcagcttcaTggccgcgccgccgcccgcgc	3	9	11	18	6	4	0	3	0	1	0	4	0	4	0	4	1	2	3	4	1	0	4	rs139759238		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr11:62389419T>C	ENST00000531383.1	-	1	207	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B3GAT3_ENST00000534026.1_Start_Codon_SNP_p.M1V|B3GAT3_ENST00000265471.5_Start_Codon_SNP_p.M1V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	1					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TTCAGCTTCATggccgcgccg	0.726													3	24					0	0	1	0	0	C	62389419	T	C	62389419	1	2	62	1	0	0	0	0	0	0	0	0	1253	1464	51	4		4	B3GAT3	11	62389419	Translation_Start_Site	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08		62389419	72617097	7	1120											
IQSEC3	440073	broad.mit.edu	37	chr12	266746	266746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagcagttccacaaccccGacaccatcttcatcctcgcc	9	9	4	19	2	3	0	2	0	1	0	6	1	5	0	6	0	2	2	6	0	1	3			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr12:266746G>A	ENST00000538872.1	+	7	2447	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	777	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAACCCCGACACCATCTT	0.597													36	59					0	0	1	0	0	A	266746	G	A	266746	3	1	62	1	0	0	0	0	1	0	0	0	7863	1058	37	1	2355	1	IQSEC3	12	266746	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		266746	133585149	8	1121											
MYH7	4625	broad.mit.edu	37	chr14	23888716	23888716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtttgcaacttggcccGctggctggtgaggtcgttga	4	12	15	10	3	0	2	0	2	0	0	2	2	0	2	1	5	2	5	1	5	1	3			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr14:23888716G>A	ENST00000355349.3	-	28	3991	c.3829C>T	c.(3829-3831)Cgg>Tgg	p.R1277W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1277					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|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)		AACTTGGCCCGCTGGCTGGTG	0.602													4	115					0	0	1	0	0	A	23888716	G	A	23888716	3	1	62	1	0	0	0	0	1	0	0	0	10087	1086	38	1	2030	1	MYH7	14	23888716	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		23888716	83460824	9	1122											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140133	3140133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccgcggccgcactctgcGcacaggaaggcgggttcgga	8	4	16	13	6	1	0	0	0	1	0	2	2	1	2	2	5	2	3	2	5	2	1			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:3140133G>A	ENST00000252463.2	-	5	1224	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	ZSCAN10_ENST00000575108.1_Silent_p.C40C|ZSCAN10_ENST00000538082.2_Silent_p.C297C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	379					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCACTCTGCGCACAGGAAGG	0.711													3	64					0	0	1	0	0	A	3140133	G	A	3140133	2	1	62	1	0	0	0	0	0	0	0	1	18269	1079	38	1		1	ZSCAN10	16	3140133	Silent	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		3140133	87214620	10	1123											
ZNF747	65988	broad.mit.edu	37	chr16	30544430	30544430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttctccagggctcccGtcccttccctttgtctttcc	1	14	8	18	2	2	0	0	0	2	0	7	0	6	0	5	2	0	2	5	2	0	4			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:30544430G>A	ENST00000252799.3	-	2	1193	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CAGGGCTCCCGTCCCTTCCCT	0.602													3	54					0	0	1	0	0	A	30544430	G	A	30544430	3	1	62	1	0	0	0	0	1	0	0	0	18180	1144	40	1	53	1	ZNF747	16	30544430	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08	27404297	30544430	59810323	11	1124											
NCAN	1463	broad.mit.edu	37	chr19	19349148	19349148	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcatgggaagatgccGagaaggactgccgccgccgc	9	3	18	11	4	0	2	0	0	0	2	0	6	0	5	4	4	2	1	4	4	2	0			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:19349148G>T	ENST00000252575.6	+	11	3436	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		C-type lectin.				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)			GGAAGATGCCGAGAAGGACTG	0.632													3	52					1	1	1	1	0	T	19349148	G	T	19349148	4	4	62	1	0	0	0	0	0	1	0	0	10251	1059	37	5	3375	5	NCAN	19	19349148	Nonsense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		19349148	39779835	12	1125											
PSG1	0	broad.mit.edu	37	chr19	43382400	43382400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatcgtgacttgggcagtgGtgggcaggttccagaagttt	8	11	15	7	1	0	2	0	1	0	1	2	2	1	2	1	4	0	4	1	4	2	3			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:43382400G>A	ENST00000244296.2	-	2	232	c.95C>T	c.(94-96)aCc>aTc	p.T32I	PSG1_ENST00000436291.2_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTGGGCAGTGGTGGGCAGGTT	0.488													110	74					0	0	1	0	0	A	43382400	G	A	43382400	3	1	62	1	0	0	0	0	1	0	0	0	12702	1261	44	3	1237	3	PSG1	19	43382400	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08	24033252	43382400	15746583	13	1126											
OSBPL2	9885	broad.mit.edu	37	chr20	60868864	60868864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctacccaggcaataaccCctacactgggacccccgact	10	7	7	17	1	1	0	0	0	1	0	1	2	1	1	5	2	3	2	5	2	4	4			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr20:60868864C>G	ENST00000313733.3	+	14	1566	c.1364C>G	c.(1363-1365)cCc>cGc	p.P455R	OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	455					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGCAATAACCCCTACACTGGG	0.582													24	37					0	0	1	0	0	G	60868864	C	G	60868864	3	3	62	1	0	0	0	0	1	0	0	0	11325	623	22	5	1414	5	OSBPL2	20	60868864	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		60868864	2156656	14	1127											
SLC25A6	293	broad.mit.edu	37	chrX	1508133	1508133	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgatggcagccacacgtaCccttggccgtatcgtacacg	8	7	11	15	6	0	0	0	0	0	0	1	1	0	0	3	2	3	4	3	2	3	4			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:1508133C>A	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	gccACACGTACCCTTGGCCGT	0.627													3	47					0.004672	0.00494682	1	1	0	A	1508133	C	A	1508133	5	1	62	1	0	0	0	0	0	0	1	0	14568	521	18	5	309	5	SLC25A6	23	1508133	Splice_Site	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		1508133	153762427	15	1128											
FLNA	0	broad.mit.edu	37	chrX	153596438	153596438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcagcttcaggttccCgtccacgatggccttgctgt	6	11	11	13	2	2	0	2	0	0	0	4	2	4	1	3	3	2	3	3	3	0	3			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:153596438C>T	ENST00000422373.1	-	3	642	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	FLNA_ENST00000369850.3_Missense_Mutation_p.G132R|FLNA_ENST00000360319.4_Missense_Mutation_p.G132R|FLNA_ENST00000344736.4_Missense_Mutation_p.G132R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	132	Actin-binding.|CH 1.				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	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G132W(1)		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)					TTCAGGTTCCCGTCCACGATG	0.622													62	4					0	0	1	0	0	T	153596438	C	T	153596438	3	4	62	1	0	0	0	0	1	0	0	0	5966	652	23	1	7733	1	FLNA	23	153596438	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08	152088305	153596438	1674122	16	1129											
UBR4	23352	broad.mit.edu	37	chr1	19492233	19492233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactggagacattcctccagGatggattcatccagtccact	10	11	8	12	0	1	1	1	0	0	1	5	4	5	3	4	3	1	0	4	3	1	3	rs143052374		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr1:19492233G>A	ENST00000375267.2	-	30	4131	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	UBR4_ENST00000375254.3_Silent_p.I1376I|UBR4_ENST00000375217.2_Silent_p.I1376I|UBR4_ENST00000375226.2_Silent_p.I1376I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1376					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)		ATTCCTCCAGGATGGATTCAT	0.433													15	23					0	0	1	0	0	A	19492233	G	A	19492233	2	1	63	1	0	0	0	0	0	0	0	1	16965	1164	41	3		3	UBR4	1	19492233	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		19492233	229758388	1	1130											
NBEAL2	23218	broad.mit.edu	37	chr3	47041744	47041744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttactccagccagccaGcccggcactccttcgccact	7	8	6	20	2	1	0	0	0	1	0	4	0	3	0	6	1	4	1	6	1	1	2			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:47041744G>A	ENST00000450053.3	+	27	4334	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	NBEAL2_ENST00000292309.5_Silent_p.Q1201Q|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1385							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)		CAGCCAGCCAGCCCGGCACTC	0.652													17	13					0	0	1	0	0	A	47041744	G	A	47041744	2	1	63	1	0	0	0	0	0	0	0	1	10237	962	34	2		2	NBEAL2	3	47041744	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		47041744	150980686	2	1131											
GPR87	0	broad.mit.edu	37	chr3	151012731	151012731	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggtccaaatcctgcAtcatggactattcgaaatgg	13	10	8	10	1	1	0	1	0	0	0	4	2	3	1	3	3	2	1	3	3	5	3			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:151012731A>C	ENST00000260843.4	-	3	767	c.303T>G	c.(301-303)gaT>gaG	p.D101E	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	101						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			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)			CAAATCCTGCATCATGGACTA	0.383													19	27					0	0	1	0	0	C	151012731	A	C	151012731	3	2	63	1	0	0	0	0	1	0	0	0	6756	214	8	5	777	5	GPR87	3	151012731	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08	103970987	151012731	47009699	3	1132											
TP63	8626	broad.mit.edu	37	chr3	189582119	189582119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggagctgttatccgCgccatgcctgtctacaaaaa	10	9	9	13	2	2	0	1	0	1	0	3	1	3	1	4	1	3	2	4	1	4	2	rs61732782	byFrequency	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:189582119C>T	ENST00000264731.3	+	5	767	c.678C>T	c.(676-678)cgC>cgT	p.R226R	TP63_ENST00000440651.2_Silent_p.R226R|TP63_ENST00000449992.1_Silent_p.R47R|TP63_ENST00000392460.3_Silent_p.R226R|TP63_ENST00000437221.1_Silent_p.R132R|TP63_ENST00000392461.3_Silent_p.R132R|TP63_ENST00000456148.1_Silent_p.R132R|TP63_ENST00000382063.4_Silent_p.R141R|TP63_ENST00000392463.2_Silent_p.R132R|TP63_ENST00000354600.5_Silent_p.R132R|TP63_ENST00000418709.2_Silent_p.R226R|TP63_ENST00000320472.5_Silent_p.R226R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	226					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGTTATCCGCGCCATGCCTG	0.517										HNSCC(45;0.13)			23	28					0	0	1	0	0	T	189582119	C	T	189582119	2	4	63	1	0	0	0	0	0	0	0	1	16453	755	27	1		1	TP63	3	189582119	Silent	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	38569388	189582119	8440311	4	1133											
SLC12A7	10723	broad.mit.edu	37	chr5	1060463	1060463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcccccacgtacctctCgctcctgctcgttcttggac	4	10	8	19	4	2	0	0	0	2	0	5	1	3	1	4	2	2	4	4	2	1	3	rs143654475		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr5:1060463C>A	ENST00000264930.5	-	21	2886	c.2843G>T	c.(2842-2844)cGa>cTa	p.R948L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	948					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTACCTCTCGCTCCTGCTC	0.562													20	31					2.39556e-15	2.39556e-15	1	1	0	A	1060463	C	A	1060463	3	1	63	1	0	0	0	0	1	0	0	0	14443	884	31	5	424	5	SLC12A7	5	1060463	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		1060463	179854797	5	1134											
USP49	25862	broad.mit.edu	37	chr6	41766669	41766669	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgattacggccagaccaccTagaacatggatataagcttg	14	9	9	9	1	0	3	0	1	0	2	0	4	0	4	3	2	3	1	3	2	5	5			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr6:41766669T>G	ENST00000394253.3	-	6	2000		c.e6-2		USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site|USP49_ENST00000373006.1_Splice_Site			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.?(1)		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)			CCAGACCACCTAGAACATGGA	0.413													6	75					0	0	1	0	0	G	41766669	T	G	41766669	5	3	63	1	0	0	0	0	0	0	1	0	17140	1536	53	5	257	5	USP49	6	41766669	Splice_Site	SNP	T	TCGA-WC-A87U-01A-11D-A39W-08		41766669	129348398	6	1135											
FKBP9	11328	broad.mit.edu	37	chr7	33028245	33028245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtcccgcctcacctgggGtatggagaggaaggaagagg	9	6	18	8	1	1	2	1	0	0	2	2	5	2	4	3	7	0	1	3	7	3	1			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:33028245G>A	ENST00000242209.4	+	6	1189	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	FKBP9_ENST00000538443.1_Silent_p.G202G|FKBP9_ENST00000538336.1_Silent_p.G393G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.G108G|FKBP9_ENST00000489038.1_3'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	340	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTCACCTGGGGTATGGAGAGG	0.512													12	16					0	0	1	0	0	A	33028245	G	A	33028245	2	1	63	1	0	0	0	0	0	0	0	1	5948	1248	44	3		3	FKBP9	7	33028245	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		33028245	126110418	7	1136											
SLC26A5	375611	broad.mit.edu	37	chr7	103050935	103050935	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcggtggtaaacccaCggaccagaggctctgtgaga	9	7	14	11	2	1	2	0	1	1	2	1	4	1	3	2	4	3	3	2	4	2	1			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:103050935C>T	ENST00000354356.4	-	0	798				SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000306312.3_Missense_Mutation_p.R211H			P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5						regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413													11	12					0	0	1	0	0	T	103050935	C	T	103050935	1	4	63	1	0	0	0	0	0	0	0	0	14575	536	19	1		1	SLC26A5	7	103050935	Translation_Start_Site	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	70022690	103050935	56087728	8	1137											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519490	113519490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttactagctccaatccctgCcacacttattttagggttac	9	14	6	12	0	0	0	0	0	0	0	2	0	2	0	3	1	4	3	3	1	6	6			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:113519490C>T	ENST00000284601.3	-	4	1725	c.1657G>A	c.(1657-1659)Gca>Aca	p.A553T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	553					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAATCCCTGCCACACTTATT	0.418													18	34					0	0	1	0	0	T	113519490	C	T	113519490	3	4	63	1	0	0	0	0	1	0	0	0	12420	739	26	2	1715	2	PPP1R3A	7	113519490	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	10468555	113519490	45619173	9	1138											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								35	41					0	0	1	0	0	G	80409488	T	G	80409488	3	3	63	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A87U-01A-11D-A39W-08		80409488	60803943	10	1139											
SLC2A8	29988	broad.mit.edu	37	chr9	130169508	130169508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctggaacaaatcacaGcccattttgaggggcgatga	13	8	11	9	1	2	3	1	2	1	1	2	5	2	4	1	3	2	0	1	3	2	2			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:130169508G>A	ENST00000373371.3	+	10	1503	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	472						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAAATCACAGCCCATTTTGA	0.557													24	27					0	0	1	0	0	A	130169508	G	A	130169508	3	1	63	1	0	0	0	0	1	0	0	0	14606	971	34	2	1452	2	SLC2A8	9	130169508	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	49760020	130169508	11043923	11	1140											
SETX	23064	broad.mit.edu	37	chr9	135163946	135163946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtacttactcattctgtGgtttacttggctgtccaaac	8	16	7	10	0	3	0	2	0	1	0	4	0	4	0	1	2	4	3	1	2	4	6			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:135163946G>A	ENST00000372169.2	-	16	6381	c.6199C>T	c.(6199-6201)Cac>Tac	p.H2067Y	SETX_ENST00000224140.5_Missense_Mutation_p.H2067Y|SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y			Q7Z333	SETX_HUMAN	senataxin	2067					cell death|double-strand break repair|RNA processing	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)		CTCATTCTGTGGTTTACTTGG	0.373													18	13					0	0	1	0	0	A	135163946	G	A	135163946	3	1	63	1	0	0	0	0	1	0	0	0	14195	1348	47	3	1878	3	SETX	9	135163946	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	4994438	135163946	6049485	12	1141											
PLD2	5338	broad.mit.edu	37	chr17	4722777	4722777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagcgggacagtgagctgGccgtgctgatcgaggacaca	10	5	17	9	3	0	2	0	2	0	0	1	6	0	5	1	4	3	2	1	4	1	0			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:4722777G>A	ENST00000263088.6	+	23	2493	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	788	Catalytic.				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)	CAGTGAGCTGGCCGTGCTGAT	0.607													7	5					0	0	1	0	0	A	4722777	G	A	4722777	3	1	63	1	0	0	0	0	1	0	0	0	12094	1203	42	2	2448	2	PLD2	17	4722777	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		4722777	76472433	13	1142											
DHRS7B	25979	broad.mit.edu	37	chr17	21092103	21092103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgaaattgaggtgacCgtcatcagccccggctacat	11	9	10	11	2	2	3	2	3	0	0	2	3	2	3	3	2	2	2	3	2	3	3			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:21092103C>T	ENST00000395511.3	+	6	1019	c.699C>T	c.(697-699)acC>acT	p.T233T	DHRS7B_ENST00000579303.1_Silent_p.T218T|DHRS7B_ENST00000581463.1_Silent_p.T53T	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	233						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TTGAGGTGACCGTCATCAGCC	0.537													31	40					0	0	1	0	0	T	21092103	C	T	21092103	2	4	63	1	0	0	0	0	0	0	0	1	4524	639	23	1		1	DHRS7B	17	21092103	Silent	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	16369326	21092103	60103107	14	1143											
ASXL3	80816	broad.mit.edu	37	chr18	31323330	31323330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctcctagcaacaagtctgCccacctccgggagaccacca	11	6	7	17	1	2	1	0	0	2	1	4	2	3	1	6	1	3	1	6	1	3	1			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr18:31323330C>T	ENST00000269197.5	+	12	3518	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAAGTCTGCCCACCTCCGG	0.443													9	11					0	0	1	0	0	T	31323330	C	T	31323330	3	4	63	1	0	0	0	0	1	0	0	0	1067	739	26	2	3564	2	ASXL3	18	31323330	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		31323330	46753918	15	1144											
LILRB5	0	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	9					0	0	1	0	0	G	54754843	A	G	54754843	3	3	63	1	0	0	0	0	1	0	0	0	8834	319	11	4		4	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08		54754843	4374140	16	1145											
ARSD	414	broad.mit.edu	37	chrX	2825571	2825571	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggggtctgtgatgggtcAcgccctccccggagcatggg	6	7	17	11	2	2	1	1	1	1	0	3	2	3	2	3	5	1	1	3	5	1	0			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:2825571A>G	ENST00000381154.1	-	10	1598	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	508						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				GTGATGGGTCACGCCCTCCCC	0.677													2	2					0	0	1	0	0	G	2825571	A	G	2825571	3	3	63	1	0	0	0	0	1	0	0	0	988	159	6	4	262	4	ARSD	23	2825571	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08		2825571	152444989	17	1146											
EIF1AX	1964	broad.mit.edu	37	chrX	20156713	20156713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	6	18	4	13	1	4	1	2	0	3	1	5	1	4	1	3	0	3	1	3	0	2	7			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													12	0					0	0	1	0	0	T	20156713	C	T	20156713	3	4	63	1	0	0	0	0	1	0	0	0	5018	507	18	3	414	3	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	17331142	20156713	135113847	18	1147											
FLG	2312	broad.mit.edu	37	chr1	152285621	152285621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaccctgagtgcctggTgccgtctcctgattgttcct	4	13	11	13	2	1	3	0	3	1	0	3	3	2	3	5	1	2	1	5	1	0	2	rs145627745	byFrequency	TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr1:152285621T>C	ENST00000368799.1	-	3	1776	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	581	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)			GAGTGCCTGGTGCCGTCTCCT	0.567									Ichthyosis				33	224					0	0	1	0	0	C	152285621	T	C	152285621	3	2	64	1	0	0	0	0	1	0	0	0	5955	1696	59	4	10448	4	FLG	1	152285621	Missense_Mutation	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08		152285621	96965000	1	1148											
SCN11A	11280	broad.mit.edu	37	chr3	38938527	38938527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagactgtcgggcctgtcgGgttacagagttttggactct	6	13	14	8	2	1	2	0	1	1	2	3	4	1	3	1	3	1	2	1	3	1	3			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:38938527G>T	ENST00000450244.1	-	14	2410	c.2212C>A	c.(2212-2214)Ccg>Acg	p.P738T	SCN11A_ENST00000456224.3_Missense_Mutation_p.P738T|SCN11A_ENST00000444237.2_Missense_Mutation_p.P738T|SCN11A_ENST00000302328.3_Missense_Mutation_p.P738T			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	738					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)	GGGCCTGTCGGGTTACAGAGT	0.502													17	31					2.4624e-09	2.4624e-09	1	1	0	T	38938527	G	T	38938527	3	4	64	1	0	0	0	0	1	0	0	0	13967	1232	43	5	3215	5	SCN11A	3	38938527	Missense_Mutation	SNP	G	TCGA-WC-A87W-01A-11D-A39W-08		38938527	159083903	2	1149											
NBEAL2	23218	broad.mit.edu	37	chr3	47033435	47033435	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggctcattcagaacagcaAggtgggtagggcccagcctg	9	7	14	11	1	2	1	2	0	0	1	3	1	2	1	2	4	3	3	2	4	3	2			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:47033435A>T	ENST00000450053.3	+	9	1210	c.1031A>T	c.(1030-1032)aAg>aTg	p.K344M	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K344M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	344							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)		CAGAACAGCAAGGTGGGTAGG	0.592													4	4					0	0	1	0	0	T	47033435	A	T	47033435	5	4	64	1	0	0	0	0	0	0	1	0	10237	86	3	5	1065	5	NBEAL2	3	47033435	Splice_Site	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08	8094908	47033435	150988995	3	1150											
PTPRG	5793	broad.mit.edu	37	chr3	61548042	61548054	+	Splice_Site	DEL	CCCCGGTGAGTGC	CCCCGGTGAGTGC	-																															ctccattatgtcgtgtgcttCcccggtgagtgccggccgcc																								rs2365955		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:61548042_61548054delCCCCGGTGAGTGC	ENST00000474889.1	+	1	458_462	c.81_85delCCCCGGTGAGTGC	c.(79-87)ttccccggt>ttgt	p.FPG27fs	PTPRG_ENST00000295874.10_Splice_Site_p.FPG27fs|PTPRG_ENST00000495879.1_3'UTR	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	27					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCGTGTGCTTCCCCGGTGAGTGCCGGCCGCCGA	0.648													11	144	---	---	---	---						-	61548054	CCCCGGTGAGTGC	-	61548042	8	5	64	1	0	1	0	1	0	0	1	0	12854	854	30	0	83	0	PTPRG	3	61548042	Splice_Site	DEL	CCCCGGTGAGTGC	TCGA-WC-A87W-01A-11D-A39W-08	14514607	61548042	136474388	4	1151											
IGSF11	152404	broad.mit.edu	37	chr3	118824025	118824025	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttccaccagagcaaaagTtccaccagagacatttattc	14	9	6	12	0	0	2	0	0	0	2	3	3	2	2	4	0	1	3	4	0	3	5			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:118824025T>C	ENST00000354673.2	-	3	395	c.15A>G	c.(13-15)gaA>gaG	p.E5E	IGSF11_ENST00000441144.2_Silent_p.E5E|IGSF11_ENST00000425327.2_Silent_p.E5E	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	0					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAGCAAAAGTTCCACCAGAG	0.358													12	14					0	0	1	0	0	C	118824025	T	C	118824025	2	2	64	1	0	0	0	0	0	0	0	1	7642	1722	60	4		4	IGSF11	3	118824025	Silent	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08	57275983	118824025	79198405	5	1152											
KIAA1549	57670	broad.mit.edu	37	chr7	138552831	138552831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcggcaggacagccgttgaCctggtgtttccggcgaggct	5	9	16	11	4	0	1	0	1	0	0	2	3	1	2	3	5	1	4	3	5	0	2			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr7:138552831C>T	ENST00000440172.1	-	15	4867	c.4819G>A	c.(4819-4821)Gtc>Atc	p.V1607I	KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1557I|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V1607I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1607						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCCGTTGACCTGGTGTTTC	0.552			O	BRAF	pilocytic astrocytoma								8	16					0	0	1	0	0	T	138552831	C	T	138552831	3	4	64	1	0	0	0	0	1	0	0	0	8286	507	18	3	1057	3	KIAA1549	7	138552831	Missense_Mutation	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08		138552831	20585832	6	1153											
ITGA8	8516	broad.mit.edu	37	chr10	15701035	15701035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaataaacgtcatatccGtagagttaatgatggaaacc	15	11	8	7	2	2	3	1	2	1	1	3	4	3	4	2	1	2	2	2	1	7	4	rs148965352	byFrequency	TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr10:15701035G>A	ENST00000378076.3	-	10	1264	c.911C>T	c.(910-912)aCg>aTg	p.T304M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	304				T -> Y (in Ref. 5; AAA93514).	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						CGTCATATCCGTAGAGTTAAT	0.318													3	42					0	0	1	0	0	A	15701035	G	A	15701035	3	1	64	1	0	0	0	0	1	0	0	0	7926	1145	40	1	2364	1	ITGA8	10	15701035	Missense_Mutation	SNP	G	TCGA-WC-A87W-01A-11D-A39W-08		15701035	119833712	7	1154											
TRPM7	54822	broad.mit.edu	37	chr15	50866914	50866914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctctctgttgttgaatTtcctataaaagggagggtgg	8	14	13	6	0	1	1	0	1	1	0	3	2	2	2	1	3	1	4	1	3	4	5			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr15:50866914T>A	ENST00000313478.7	-	35	5303	c.5022A>T	c.(5020-5022)gaA>gaT	p.E1674D	TRPM7_ENST00000560955.1_Missense_Mutation_p.E1673D|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1674	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTGTTGAATTTCCTATAAAA	0.303													23	46					0	0	1	0	0	A	50866914	T	A	50866914	3	1	64	1	0	0	0	0	1	0	0	0	16652	1838	64	5	595	5	TRPM7	15	50866914	Missense_Mutation	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08		50866914	51664478	8	1155											
PCGF2	7703	broad.mit.edu	37	chr17	36891521	36891521	+	Frame_Shift_Del	DEL	C	C	-																															ccgttgacagtcatcttgcgCcccctgctggtggaggatgg																										TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr17:36891521delC	ENST00000580830.1	-	12	1691	c.990delG	c.(988-990)gggfs	p.G330fs	PCGF2_ENST00000581345.1_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2	330	Pro/Ser-rich.				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)					TCATCTTGCGCCCCCTGCTGG	0.627											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	36891521	C	-	36891521	7	5	64	1	0	1	0	1	0	0	0	0	11622	726	26	0	48	0	PCGF2	17	36891521	Frame_Shift_Del	DEL	C	TCGA-WC-A87W-01A-11D-A39W-08		36891521	44303689	9	1156											
RNF213	57674	broad.mit.edu	37	chr17	78332109	78332109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaccctctggaagcgggtCcaaggtgctgtcacccctct	7	8	10	16	1	3	0	1	0	2	0	4	1	4	1	4	3	2	1	4	3	2	0			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr17:78332109C>T	ENST00000582970.1	+	37	11027	c.10884C>T	c.(10882-10884)gtC>gtT	p.V3628V	RNF213_ENST00000336301.6_Silent_p.V1701V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V3677V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	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)			GGAAGCGGGTCCAAGGTGCTG	0.572													12	24					0	0	1	0	0	T	78332109	C	T	78332109	2	4	64	1	0	0	0	0	0	0	0	1	13529	842	30	3		3	RNF213	17	78332109	Silent	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08	41440588	78332109	2863101	10	1157											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								25	38					0	0	1	0	0	T	3118942	A	T	3118942	3	4	64	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08		3118942	56010041	11	1158											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377681	49377682	+	Frame_Shift_Ins	INS	-	-	G																															atcagccaggagaggacacaINSgaggaggaggaagatgagga																										TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr19:49377681_49377682insG	ENST00000200453.5	+	2	1460_1461	c.1191_1192insG	c.(1192-1194)gagfs	p.E398fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	398	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)		GAGAGGACACAGAGGAGGAGGA	0.53													38	54	---	---	---	---						G	49377682	-	G	49377681	7	5	64	1	0	1	1	0	0	0	0	0	12412	175	7	0	1193	0	PPP1R15A	19	49377681	Frame_Shift_Ins	INS	-	TCGA-WC-A87W-01A-11D-A39W-08	46258739	49377681	9751302	12	1159											
MAGED1	9500	broad.mit.edu	37	chrX	51640905	51640905	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtagaaatttgggattcaActgaaagaaattgacaaaga	18	10	9	4	0	1	5	1	2	0	3	1	6	1	6	0	1	1	1	0	1	6	4			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chrX:51640905A>G	ENST00000375695.2	+	8	1902	c.1749A>G	c.(1747-1749)caA>caG	p.Q583Q	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.Q527Q|MAGED1_ENST00000375772.3_Silent_p.Q527Q|MAGED1_ENST00000326587.7_Silent_p.Q527Q	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	527	MAGE.				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)					TTGGGATTCAACTGAAAGAAA	0.443										Multiple Myeloma(10;0.10)			9	13					0	0	1	0	0	G	51640905	A	G	51640905	2	3	64	1	0	0	0	0	0	0	0	1	9233	40	2	4		4	MAGED1	23	51640905	Silent	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08		51640905	103629655	13	1160											
NBPF3	84224	broad.mit.edu	37	chr1	21798124	21798124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttaagggagaagttacAggaagggagagatgcctccc	13	6	14	8	0	0	2	0	0	0	2	1	6	1	4	3	3	2	2	3	3	4	2			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:21798124A>G	ENST00000318220.6	+	8	1389	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	NBPF3_ENST00000318249.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	170			Y -> C (in dbSNP:rs1827293).			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)		GAGAAGTTACAGGAAGGGAGA	0.517													6	170					0	0	1	0	0	G	21798124	A	G	21798124	3	3	65	1	0	0	0	0	1	0	0	0	10245	188	7	4	523	4	NBPF3	1	21798124	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08		21798124	227452497	1	1161											
AHCTF1	25909	broad.mit.edu	37	chr1	247006072	247006072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttctactgattgtgcatCatctttctatgggttaaaca	10	17	7	7	0	4	1	1	1	3	0	4	1	4	1	0	1	3	3	0	1	4	6			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:247006072C>T	ENST00000366508.1	-	35	6773	c.6637G>A	c.(6637-6639)Gat>Aat	p.D2213N	AHCTF1_ENST00000391829.2_Missense_Mutation_p.D2178N|AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2178	Necessary for nuclear localization (By similarity).			P -> L (in Ref. 1; BAB78516).	cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATTGTGCATCATCTTTCTAT	0.358													22	43					0	0	1	0	0	T	247006072	C	T	247006072	3	4	65	1	0	0	0	0	1	0	0	0	405	826	29	3	276	3	AHCTF1	1	247006072	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08	225207948	247006072	2244549	2	1162											
SNTG2	54221	broad.mit.edu	37	chr2	1263147	1263147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgcaggtgagCacattcgattgggtgcgagc	6	13	13	9	2	2	1	0	1	2	0	3	3	2	1	0	2	4	3	0	2	0	4			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr2:1263147C>T	ENST00000308624.5	+	13	1140	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	SNTG2_ENST00000407292.1_Silent_p.S210S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	337	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCAGGTGAGCACATTCGATT	0.403													8	33					0	0	1	0	0	T	1263147	C	T	1263147	2	4	65	1	0	0	0	0	0	0	0	1	14929	709	25	2		2	SNTG2	2	1263147	Silent	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		1263147	241936226	3	1163											
MAN2A1	4124	broad.mit.edu	37	chr5	109106204	109106204	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttggttgtccctggggagtCcccccagaaacaatacatcc	9	10	9	13	0	0	1	0	0	0	1	3	2	3	2	5	3	2	1	5	3	3	3			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:109106204C>G	ENST00000261483.4	+	7	2210	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	386					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCTGGGGAGTCCCCCCAGAAA	0.433													3	68					0	0	1	0	0	G	109106204	C	G	109106204	2	3	65	1	0	0	0	0	0	0	0	1	9264	842	30	5		5	MAN2A1	5	109106204	Silent	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		109106204	71809056	4	1164											
PURA	5813	broad.mit.edu	37	chr5	139493896	139493898	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgggggcggcggcggcagtGgcggcggcggcggcggggcc																										TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:139493896_139493898delGGC	ENST00000331327.3	+	1	189_191	c.130_132delGGC	c.(130-132)ggcdel	p.G49del	PURA_ENST00000505703.1_3'UTR	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	49	Gly-rich.				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	p.G44delG(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcagtggcggcggcggcg	0.778													4	3	---	---	---	---						-	139493898	GGC	-	139493896	7	5	65	1	0	1	0	1	0	0	0	0	12879	1348	47	0	132	0	PURA	5	139493896	In_Frame_Del	DEL	GGC	TCGA-WC-A87Y-01A-11D-A39W-08	30387692	139493896	41421364	5	1165											
UNC5B	219699	broad.mit.edu	37	chr10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accccgtcaactttaagacgGcaaggcccagtaagaacccg	13	5	9	14	3	1	2	1	0	0	2	1	2	1	2	4	2	2	2	4	2	5	3			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.A429T(2)		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						CTTTAAGACGGCAAGGCCCAG	0.597													4	171					0	0	1	0	0	A	73050857	G	A	73050857	3	1	65	1	0	0	0	0	1	0	0	0	17052	1203	42	2	1319	2	UNC5B	10	73050857	Missense_Mutation	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		73050857	62483890	6	1166											
PRRG4	79056	broad.mit.edu	37	chr11	32858271	32858271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtataatagatttgatctGgagctcttcactcccggcaa	10	13	8	10	1	3	2	1	1	2	1	4	3	4	3	1	2	1	3	1	2	4	5			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr11:32858271G>A	ENST00000257836.3	+	3	424	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	57	Gla.					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GATTTGATCTGGAGCTCTTCA	0.348													15	31					0	0	1	0	0	A	32858271	G	A	32858271	2	1	65	1	0	0	0	0	0	0	0	1	12658	1335	47	3		3	PRRG4	11	32858271	Silent	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		32858271	102148245	7	1167											
ARL6IP4	51329	broad.mit.edu	37	chr12	123466190	123466190	+	Frame_Shift_Del	DEL	C	C	-																															aacaagatccagctcctcctCctcttcttccagttcttcta																										TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr12:123466190delC	ENST00000315580.5	+	3	930	c.602delC	c.(601-603)tccfs	p.S221fs	ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	221	Ser-rich.				RNA splicing	nucleus						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)		AGctcctcctcctcttcttcc	0.562													2	4	---	---	---	---						-	123466190	C	-	123466190	7	5	65	1	0	1	0	1	0	0	0	0	942	855	30	0	612	0	ARL6IP4	12	123466190	Frame_Shift_Del	DEL	C	TCGA-WC-A87Y-01A-11D-A39W-08		123466190	10385705	8	1168											
ANXA2	302	broad.mit.edu	37	chr15	60648185	60648185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgtccttctccagaTcagtcttgtacacttggagg	11	13	8	9	0	3	1	1	0	2	1	5	2	4	2	2	2	1	1	2	2	3	5			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:60648185T>A	ENST00000396024.3	-	8	620	c.461A>T	c.(460-462)gAt>gTt	p.D154V	ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V|ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	154					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTTCTCCAGATCAGTCTTGTA	0.473													16	17					0	0	1	0	0	A	60648185	T	A	60648185	3	1	65	1	0	0	0	0	1	0	0	0	712	1435	50	5	586	5	ANXA2	15	60648185	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08		60648185	41883207	9	1169											
ABHD2	11057	broad.mit.edu	37	chr15	89694924	89694924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatacattccaccgttgAtctgggggaaaagtggacac	12	10	11	8	1	1	2	0	1	1	1	2	4	2	4	2	3	1	1	2	3	4	4			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:89694924A>G	ENST00000352732.5	+	4	731	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	71						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)					TCCACCGTTGATCTGGGGGAA	0.453													36	68					0	0	1	0	0	G	89694924	A	G	89694924	3	3	65	1	0	0	0	0	1	0	0	0	82	333	12	4	217	4	ABHD2	15	89694924	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08	29046739	89694924	12836468	10	1170											
RGS11	8786	broad.mit.edu	37	chr16	321227	321227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcatgacccagtaggcGtcattgtctgagatccaggg	9	10	12	10	1	3	2	2	2	1	1	4	3	4	2	2	2	0	2	2	2	1	3			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:321227G>A	ENST00000397770.3	-	12	854	c.837C>T	c.(835-837)gaC>gaT	p.D279D	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.D268D|RGS11_ENST00000316163.5_Silent_p.D258D			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	279	G protein gamma.				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	p.D279E(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		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)				CCCAGTAGGCGTCATTGTCTG	0.672													8	12					0	0	1	0	0	A	321227	G	A	321227	2	1	65	1	0	0	0	0	0	0	0	1	13344	1136	40	1		1	RGS11	16	321227	Silent	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		321227	90033526	11	1171											
PRR14	78994	broad.mit.edu	37	chr16	30666177	30666177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggccgagcagtctgggGctgctgagggcactgcgtct	6	7	17	11	2	2	2	0	1	2	1	2	3	2	2	1	4	3	4	1	4	0	0			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:30666177G>A	ENST00000542965.2	+	7	1342	c.886G>A	c.(886-888)Gct>Act	p.A296T	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T			Q9BWN1	PRR14_HUMAN	proline rich 14	296	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCAGTCTGGGGCTGCTGAGGG	0.637													15	21					0	0	1	0	0	A	30666177	G	A	30666177	3	1	65	1	0	0	0	0	1	0	0	0	12638	1203	42	2	912	2	PRR14	16	30666177	Missense_Mutation	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08	30344950	30666177	59688576	12	1172											
CHST4	10164	broad.mit.edu	37	chr16	71571118	71571118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtgctcaaggaggtgCgcttcttcaacctgcagtcc	7	10	12	12	2	3	0	2	0	1	0	4	1	4	1	2	3	4	3	2	3	2	2			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:71571118C>T	ENST00000338482.5	+	3	881	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	180					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R180C(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAAGGAGGTGCGCTTCTTCAA	0.637													7	18					0	0	1	0	0	T	71571118	C	T	71571118	3	4	65	1	0	0	0	0	1	0	0	0	3428	768	27	1	540	1	CHST4	16	71571118	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08	40904941	71571118	18783635	13	1173											
MYH4	4622	broad.mit.edu	37	chr17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgaagtggccccacCggcttcttccagcctctcac	5	9	10	17	1	2	1	1	1	2	0	4	1	3	1	5	3	1	2	5	3	1	2			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:10355524C>T	ENST00000255381.2	-	27	3582	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1158					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGCCCCACCGGCTTCTTCC	0.612													51	93					0	0	1	0	0	T	10355524	C	T	10355524	3	4	65	1	0	0	0	0	1	0	0	0	10085	652	23	1	2403	1	MYH4	17	10355524	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		10355524	70839686	14	1174											
TNS4	84951	broad.mit.edu	37	chr17	38645057	38645057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggttcccagagaagaTgaggctctcactgctgcttc	7	10	11	13	0	1	3	1	1	1	2	4	4	2	3	2	2	2	4	2	2	1	2			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:38645057T>C	ENST00000254051.6	-	3	762	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	202	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCAGAGAAGATGAGGCTCTCA	0.652													23	50					0	0	1	0	0	C	38645057	T	C	38645057	3	2	65	1	0	0	0	0	1	0	0	0	16405	1464	51	4	1587	4	TNS4	17	38645057	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08	28289533	38645057	42550153	15	1175											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								15	42					0	0	1	0	0	T	3118942	A	T	3118942	3	4	65	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08		3118942	56010041	16	1176											
NEFH	4744	broad.mit.edu	37	chr22	29885828	29885828	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagaagcaaagaccccCgagaaggccaagtccccagt	16	2	11	12	1	0	3	0	0	0	3	1	5	1	4	5	2	1	1	5	2	6	0	rs144895799		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr22:29885828C>A	ENST00000310624.6	+	4	2232	c.2199C>A	c.(2197-2199)ccC>ccA	p.P733P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	739	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.P733P(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAAGACCCCCGAGAAGGCCA	0.542													3	65					1	1	1	1	0	A	29885828	C	A	29885828	2	1	65	1	0	0	0	0	0	0	0	1	10361	639	23	5		5	NEFH	22	29885828	Silent	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		29885828	21418738	17	1177											
UBA1	7317	broad.mit.edu	37	chrX	47060312	47060312	+	Frame_Shift_Del	DEL	C	C	-																															ggtggtggtgctcaccaacaCccccctggaggaccagctgc																										TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chrX:47060312delC	ENST00000335972.6	+	6	683	c.500delC	c.(499-501)accfs	p.T167fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	167	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCACCAACACCCCCCTGGAG	0.622													2	4	---	---	---	---						-	47060312	C	-	47060312	7	5	65	1	0	1	0	1	0	0	0	0	16888	507	18	0	518	0	UBA1	23	47060312	Frame_Shift_Del	DEL	C	TCGA-WC-A87Y-01A-11D-A39W-08		47060312	108210248	18	1178											
POLR1B	84172	broad.mit.edu	37	chr2	113332606	113332606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccggctgaggacatgcCttttactgagagtgggatgg	7	10	17	7	1	0	2	0	2	0	1	0	5	0	4	2	5	2	1	2	5	1	2			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr2:113332606C>T	ENST00000263331.5	+	15	3288	c.2708C>T	c.(2707-2709)cCt>cTt	p.P903L	POLR1B_ENST00000417433.2_Missense_Mutation_p.P847L|POLR1B_ENST00000541869.1_Missense_Mutation_p.P941L|POLR1B_ENST00000409894.3_Missense_Mutation_p.P720L|POLR1B_ENST00000537335.1_Missense_Mutation_p.P692L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	903					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						GAGGACATGCCTTTTACTGAG	0.502													32	56					0	0	1	0	0	T	113332606	C	T	113332606	3	4	66	1	0	0	0	0	1	0	0	0	12258	681	24	3	2766	3	POLR1B	2	113332606	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		113332606	129866767	1	1179											
SPHKAP	80309	broad.mit.edu	37	chr2	228883588	228883588	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagttcattcctgacgacaTtttctgagcacagggtctga	9	12	9	11	1	3	3	1	3	2	0	4	4	4	3	2	1	1	2	2	1	0	4			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr2:228883588T>A	ENST00000392056.3	-	7	2028	c.1982A>T	c.(1981-1983)aAt>aTt	p.N661I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N661I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	661						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGACGACATTTTCTGAGCA	0.443													76	76					0	0	1	0	0	A	228883588	T	A	228883588	3	1	66	1	0	0	0	0	1	0	0	0	15104	1493	52	5	3144	5	SPHKAP	2	228883588	Missense_Mutation	SNP	T	TCGA-WC-A880-01A-11D-A39W-08	115550982	228883588	14315785	2	1180											
PLSCR5	389158	broad.mit.edu	37	chr3	146309609	146309609	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaatttaggcagaaaGgggtcccacttctgcgtaac	11	11	11	8	1	1	2	0	1	1	1	2	2	2	2	1	3	2	2	1	3	4	5			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr3:146309609G>C	ENST00000443512.1	-	5	1516	c.513C>G	c.(511-513)ccC>ccG	p.P171P	PLSCR5_ENST00000492200.1_Silent_p.P171P|PLSCR5_ENST00000482567.1_Silent_p.P159P	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	171										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TAGGCAGAAAGGGGTCCCACT	0.378													10	15					0	0	1	0	0	C	146309609	G	C	146309609	2	2	66	1	0	0	0	0	0	0	0	1	12161	987	35	5		5	PLSCR5	3	146309609	Silent	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		146309609	51712821	3	1181											
MUC4	4585	broad.mit.edu	37	chr3	195484122	195484122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtgcagatgccaagcCaatcttggcacttcttgcta	9	11	10	11	0	2	1	0	0	2	1	2	2	2	2	2	2	4	3	2	2	3	4			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr3:195484122C>T	ENST00000463781.3	-	18	15523	c.15064G>A	c.(15064-15066)Ggc>Agc	p.G5022S	MUC4_ENST00000475231.1_Missense_Mutation_p.G4970S|MUC4_ENST00000349607.4_Missense_Mutation_p.G735S|MUC4_ENST00000346145.4_Missense_Mutation_p.G786S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1779					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGCCAAGCCAATCTTGGCA	0.552													24	27					0	0	1	0	0	T	195484122	C	T	195484122	3	4	66	1	0	0	0	0	1	0	0	0	10026	594	21	3	1206	3	MUC4	3	195484122	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08	49174513	195484122	2538308	4	1182											
CALD1	800	broad.mit.edu	37	chr7	134620492	134620492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaagctccaagaagaCaagcctaccttcaaaaaaga	21	4	7	9	0	1	4	1	0	0	4	2	5	2	4	3	0	3	1	3	0	9	2			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr7:134620492C>T	ENST00000361388.2	+	6	1141	c.675C>T	c.(673-675)gaC>gaT	p.D225D	CALD1_ENST00000495522.1_Silent_p.D219D|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Silent_p.D225D|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361675.2_Silent_p.D454D|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000393118.2_Silent_p.D219D|CALD1_ENST00000361901.2_Intron	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	454					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						TCCAAGAAGACAAGCCTACCT	0.368													7	10					0	0	1	0	0	T	134620492	C	T	134620492	2	4	66	1	0	0	0	0	0	0	0	1	2599	477	17	3		3	CALD1	7	134620492	Silent	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		134620492	24518171	5	1183											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								47	46					0	0	1	0	0	A	80409488	T	A	80409488	3	1	66	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A880-01A-11D-A39W-08		80409488	60803943	6	1184											
TRIM68	55128	broad.mit.edu	37	chr11	4626372	4626372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctcatgctctggggactgGctgcaggcctcacacattat	7	10	11	13	0	3	0	2	0	1	0	3	1	3	1	2	4	2	3	2	4	1	1			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr11:4626372G>C	ENST00000300747.5	-	2	652	c.363C>G	c.(361-363)agC>agG	p.S121R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552													24	48					0	0	1	0	0	C	4626372	G	C	4626372	3	2	66	1	0	0	0	0	1	0	0	0	16602	1194	42	5	1118	5	TRIM68	11	4626372	Missense_Mutation	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		4626372	130380144	7	1185											
CSPG4	1464	broad.mit.edu	37	chr15	75977618	75977618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccgtcctccttctgcaggGctccatgctggggtggctcc	2	11	13	15	1	1	0	0	0	1	0	6	0	6	0	5	4	2	4	5	4	0	1			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr15:75977618G>A	ENST00000308508.5	-	4	4306	c.4214C>T	c.(4213-4215)gCc>gTc	p.A1405V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1405	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).			A -> P (in Ref. 1; CAA65529).	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			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTTCTGCAGGGCTCCATGCTG	0.667													3	54					0	0	1	0	0	A	75977618	G	A	75977618	3	1	66	1	0	0	0	0	1	0	0	0	3985	1203	42	2	2782	2	CSPG4	15	75977618	Missense_Mutation	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		75977618	26553774	8	1186											
C17orf47	284083	broad.mit.edu	37	chr17	56620130	56620130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctctctggaacttcAgatcctcacagaaagggcta	10	11	7	13	0	4	2	2	0	2	2	7	3	5	3	2	2	1	1	2	2	3	3			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr17:56620130A>G	ENST00000321691.3	-	1	1599	c.1418T>C	c.(1417-1419)cTg>cCg	p.L473P	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	473										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGAACTTCAGATCCTCACA	0.493													4	197					0	0	1	0	0	G	56620130	A	G	56620130	3	3	66	1	0	0	0	0	1	0	0	0	1867	188	7	4	302	4	C17orf47	17	56620130	Missense_Mutation	SNP	A	TCGA-WC-A880-01A-11D-A39W-08		56620130	24575080	9	1187											
NPAS1	4861	broad.mit.edu	37	chr19	47542770	47542770	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccactccatggacacAtgatcgtcttccgtctcagc	8	10	8	15	2	2	1	1	1	2	0	6	2	4	2	3	1	3	1	3	1	0	1			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr19:47542770A>T	ENST00000602212.1	+	8	1130	c.910A>T	c.(910-912)Atg>Ttg	p.M304L	NPAS1_ENST00000449844.2_Missense_Mutation_p.M304L|NPAS1_ENST00000602189.1_Missense_Mutation_p.M129L|NPAS1_ENST00000439365.2_Missense_Mutation_p.M128L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	304	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCATGGACACATGATCGTCTT	0.672													26	20					0	0	1	0	0	T	47542770	A	T	47542770	3	4	66	1	0	0	0	0	1	0	0	0	10609	217	8	5	936	5	NPAS1	19	47542770	Missense_Mutation	SNP	A	TCGA-WC-A880-01A-11D-A39W-08		47542770	11586213	10	1188											
TMC2	117532	broad.mit.edu	37	chr20	2597933	2597933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatcatgtccctcccacCctcctttgactgcgggccgt	5	10	7	19	2	1	1	1	1	0	0	4	1	4	1	6	1	1	0	6	1	0	1			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr20:2597933C>T	ENST00000358864.1	+	16	2171	c.2156C>T	c.(2155-2157)cCc>cTc	p.P719L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	719						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						TCCCTCCCACCCTCCTTTGAC	0.622													14	30					0	0	1	0	0	T	2597933	C	T	2597933	3	4	66	1	0	0	0	0	1	0	0	0	16045	623	22	3	2218	3	TMC2	20	2597933	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		2597933	60427587	11	1189											
EIF1AX	1964	broad.mit.edu	37	chrX	20156740	20156740	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgtttttacctcctttaCctgatggtttaaaaaaaaga	12	16	6	7	0	1	2	0	1	1	1	2	2	2	2	3	1	2	2	3	1	6	7			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chrX:20156740C>T	ENST00000379607.5	-	2	220	c.17G>A	c.(16-18)gGt>gAt	p.G6D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	6						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ACCTCCTTTACCTGATGGTTT	0.299													27	2					0	0	1	0	0	T	20156740	C	T	20156740	5	4	66	1	0	0	0	0	0	0	1	0	5018	521	18	3	441	3	EIF1AX	23	20156740	Splice_Site	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		20156740	135113820	12	1190											
ABCA4	24	broad.mit.edu	37	chr1	94512515	94512515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccattgtggcccaggaatgCggtgatctggttctcgtaga	7	12	13	9	2	2	2	0	1	2	1	4	3	3	3	2	4	1	2	2	4	2	3			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:94512515C>T	ENST00000370225.3	-	19	2964	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A886T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	960	ABC transporter 1.				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)		CCCAGGAATGCGGTGATCTGG	0.537													4	115					0	0	1	0	0	T	94512515	C	T	94512515	3	4	67	1	0	0	0	0	1	0	0	0	34	768	27	1	4071	1	ABCA4	1	94512515	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		94512515	154738106	1	1191											
CELSR2	1952	broad.mit.edu	37	chr1	109803788	109803788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccatctggagacttcgaGaagccctactgccaggtgac	9	8	11	13	1	1	3	0	1	1	2	2	5	1	3	3	2	4	0	3	2	2	2			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:109803788G>A	ENST00000271332.3	+	3	4144	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1361	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGACTTCGAGAAGCCCTACT	0.632													37	40					0	0	1	0	0	A	109803788	G	A	109803788	2	1	67	1	0	0	0	0	0	0	0	1	3244	933	33	3		3	CELSR2	1	109803788	Silent	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	15291273	109803788	139446833	2	1192											
ATAD2B	54454	broad.mit.edu	37	chr2	24046157	24046160	+	Frame_Shift_Del	DEL	GCAT	GCAT	-																															tgtcactctggctaatttcaGcatgaggaaacactttttgc																										TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:24046157_24046160delGCAT	ENST00000238789.5	-	16	2442_2445	c.2099_2102delATGC	c.(2098-2103)catgctfs	p.HA700fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	700							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAATTTCAGCATGAGGAAACAC	0.368													14	12	---	---	---	---						-	24046160	GCAT	-	24046157	7	5	67	1	0	1	0	1	0	0	0	0	1071	971	34	0	2326	0	ATAD2B	2	24046157	Frame_Shift_Del	DEL	GCAT	TCGA-WC-A881-01A-12D-A39W-08		24046157	219153216	3	1193											
SF3B1	23451	broad.mit.edu	37	chr2	198267372	198267372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatcttaataccagtgTgtctcgcttgccaggacttc	9	13	8	11	1	2	0	0	0	2	0	4	1	2	1	2	1	3	2	2	1	4	5			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:198267372T>C	ENST00000335508.6	-	14	2076	c.1985A>G	c.(1984-1986)cAc>cGc	p.H662R		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	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)			AATACCAGTGTGTCTCGCTTG	0.428			Mis		myelodysplastic syndrome								29	28					0	0	1	0	0	C	198267372	T	C	198267372	3	2	67	1	0	0	0	0	1	0	0	0	14203	1696	59	4	1977	4	SF3B1	2	198267372	Missense_Mutation	SNP	T	TCGA-WC-A881-01A-12D-A39W-08	174221215	198267372	44932001	4	1194											
TF	7018	broad.mit.edu	37	chr3	133473498	133473498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacttacctgagccacGtaaacctcttgagaaaggta	12	10	9	10	1	1	3	0	3	1	1	1	4	1	3	3	1	3	2	3	1	5	4			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr3:133473498G>A	ENST00000402696.3	+	4	970	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TF_ENST00000264998.3_Missense_Mutation_p.R35H|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	162	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCTGAGCCACGTAAACCTCTT	0.567													53	56					0	0	1	0	0	A	133473498	G	A	133473498	3	1	67	1	0	0	0	0	1	0	0	0	15845	1145	40	1	499	1	TF	3	133473498	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		133473498	64548932	5	1195											
SLIT2	9353	broad.mit.edu	37	chr4	20255451	20255451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaagatgcgcggcgttGgctggcagatgctgtccctg	6	8	18	9	3	0	2	0	0	0	2	1	3	1	3	1	5	2	4	1	5	1	1			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr4:20255451G>T	ENST00000504154.1	+	1	265	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	SLIT2_ENST00000503823.1_Missense_Mutation_p.G5C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G5C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G5C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	5					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|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout 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						GCGCGGCGTTGGCTGGCAGAT	0.667													34	42					8.16277e-20	8.53381e-20	1	1	0	T	20255451	G	T	20255451	3	4	67	1	0	0	0	0	1	0	0	0	14794	1348	47	5	15	5	SLIT2	4	20255451	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		20255451	170898825	6	1196											
FOXC1	2296	broad.mit.edu	37	chr6	1612302	1612302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagccagtctctgtaccGcacgtccggagctttcgtct	5	12	9	15	4	2	0	0	0	2	0	6	1	4	1	4	1	3	3	4	1	1	3			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:1612302G>A	ENST00000380874.2	+	1	1622	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|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	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCTCTGTACCGCACGTCCGGA	0.512													3	51					0	0	1	0	0	A	1612302	G	A	1612302	3	1	67	1	0	0	0	0	1	0	0	0	6027	1087	38	1	1624	1	FOXC1	6	1612302	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		1612302	169502765	7	1197											
PPP2R5D	5528	broad.mit.edu	37	chr6	42978205	42978205	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctttcttcttggtggcaGgacaatccatggactgatct	8	14	9	10	0	4	1	0	1	4	0	5	3	5	3	1	4	0	1	1	4	1	3			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:42978205G>C	ENST00000485511.1	+	13	1558		c.e13-1		PPP2R5D_ENST00000394110.3_Splice_Site|PPP2R5D_ENST00000461010.1_Splice_Site|PPP2R5D_ENST00000472118.1_Splice_Site	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta						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)			CTTGGTGGCAGGACAATCCAT	0.463													18	51					0	0	1	0	0	C	42978205	G	C	42978205	5	2	67	1	0	0	0	0	0	0	1	0	12444	1014	35	5	1429	5	PPP2R5D	6	42978205	Splice_Site	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	41365903	42978205	128136862	8	1198											
C11orf80	79703	broad.mit.edu	37	chr11	66568126	66568126	+	Frame_Shift_Del	DEL	C	C	-																															ttgcaggtcagatttcatttCagtgtaaaggtaaatggaat																										TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:66568126delC	ENST00000360962.4	+	7	739	c.732delC	c.(730-732)ttcfs	p.F244fs	C11orf80_ENST00000527634.1_Frame_Shift_Del_p.F25fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.F78fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.F25fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	89										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GATTTCATTTCAGTGTAAAGG	0.358													2	4	---	---	---	---						-	66568126	C	-	66568126	7	5	67	1	0	1	0	1	0	0	0	0	1669	825	29	0	758	0	C11orf80	11	66568126	Frame_Shift_Del	DEL	C	TCGA-WC-A881-01A-12D-A39W-08		66568126	68438390	9	1199											
TRIM29	23650	broad.mit.edu	37	chr11	119996547	119996547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagcaggacatgataGgtgggcaggggtggggggag	8	5	20	8	0	0	1	0	1	0	0	1	3	1	3	2	8	1	2	2	8	1	1			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:119996547G>T	ENST00000341846.5	-	4	1606	c.1185C>A	c.(1183-1185)acC>acA	p.T395T	TRIM29_ENST00000541857.1_Silent_p.T128T|TRIM29_ENST00000529044.1_Silent_p.T134T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	395					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGACATGATAGGTGGGCAGGG	0.522													22	18					4.26978e-12	4.26978e-12	1	1	0	T	119996547	G	T	119996547	2	4	67	1	0	0	0	0	0	0	0	1	16564	987	35	5		5	TRIM29	11	119996547	Silent	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	53428421	119996547	15009969	10	1200											
DCUN1D2	55208	broad.mit.edu	37	chr13	114115432	114115432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataacactaatttccaataCgcaacagccatttctaagtc	15	11	4	11	1	1	0	0	0	1	0	3	1	2	0	2	0	4	1	2	0	6	6			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr13:114115432C>T	ENST00000332592.3	-	3	175	c.141G>A	c.(139-141)gcG>gcA	p.A47A	DCUN1D2_ENST00000478244.1_Silent_p.A180A			Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	180										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			ATTTCCAATACGCAACAGCCA	0.383													14	17					0	0	1	0	0	T	114115432	C	T	114115432	2	4	67	1	0	0	0	0	0	0	0	1	4337	523	19	1		1	DCUN1D2	13	114115432	Silent	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		114115432	1054446	11	1201											
PPL	5493	broad.mit.edu	37	chr16	4935851	4935851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccttcttgagcacctcCttcctcaccaccgattcctg	6	11	6	18	1	2	1	1	1	1	0	5	2	5	1	7	1	1	2	7	1	0	4			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr16:4935851C>G	ENST00000345988.2	-	22	2894	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N	PPL_ENST00000590782.2_Missense_Mutation_p.K933N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	935					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						TGAGCACCTCCTTCCTCACCA	0.612													38	34					0	0	1	0	0	G	4935851	C	G	4935851	3	3	67	1	0	0	0	0	1	0	0	0	12383	680	24	5	2469	5	PPL	16	4935851	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		4935851	85418902	12	1202											
CDR2L	30850	broad.mit.edu	37	chr17	72997556	72997556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaggctggtgctggagAgtaaggctgcccagcagaag	11	5	15	10	0	0	2	0	0	0	2	0	3	0	2	2	4	3	5	2	4	2	1			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr17:72997556A>G	ENST00000337231.5	+	3	725	c.313A>G	c.(313-315)Agt>Ggt	p.S105G		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	105												all_lung(278;0.226)					GGTGCTGGAGAGTAAGGCTGC	0.667													3	6					0	0	1	0	0	G	72997556	A	G	72997556	3	3	67	1	0	0	0	0	1	0	0	0	3195	304	11	4	323	4	CDR2L	17	72997556	Missense_Mutation	SNP	A	TCGA-WC-A881-01A-12D-A39W-08		72997556	8197654	13	1203											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								20	19					0	0	1	0	0	T	3118942	A	T	3118942	3	4	67	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A881-01A-12D-A39W-08		3118942	56010041	14	1204											
CLEC4M	10332	broad.mit.edu	37	chr19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtactggaacagtggagaaCccaacaatagcgggaatgaa	16	5	13	7	1	0	2	0	1	0	1	0	5	0	4	1	4	5	1	1	4	8	2			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin.				cell-cell recognition|endocytosis|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 plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512													18	19					0	0	1	0	0	T	7833752	C	T	7833752	3	4	67	1	0	0	0	0	1	0	0	0	3541	507	18	3	1125	3	CLEC4M	19	7833752	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08	4714810	7833752	51295231	15	1205											
ALDH9A1	223	broad.mit.edu	37	chr1	165664619	165664619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcctgaacatgtgaaaGtagctatcactcggcctata	11	13	7	10	1	2	2	1	2	1	0	4	2	2	2	2	1	2	2	2	1	6	5			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:165664619G>A	ENST00000354775.4	-	2	501	c.197C>T	c.(196-198)aCt>aTt	p.T66I	ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	42					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	ACATGTGAAAGTAGCTATCAC	0.348													3	64					0	0	1	0	0	A	165664619	G	A	165664619	3	1	68	1	0	0	0	0	1	0	0	0	503	1029	36	3	1399	3	ALDH9A1	1	165664619	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		165664619	83586002	1	1206											
F5	2153	broad.mit.edu	37	chr1	169519912	169519912	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttgacttcatcttcataAggcgagaaggtcactccatg	11	11	10	9	1	4	2	3	1	1	1	5	4	5	2	1	2	0	1	1	2	2	4			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:169519912A>C	ENST00000367796.3	-	9	1563	c.1362T>G	c.(1360-1362)ccT>ccG	p.P454P	F5_ENST00000546081.1_Silent_p.P317P|F5_ENST00000367797.3_Silent_p.P454P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	454	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATCTTCATAAGGCGAGAAGG	0.393													3	55					0	0	1	0	0	C	169519912	A	C	169519912	2	2	68	1	0	0	0	0	0	0	0	1	5376	59	3	5		5	F5	1	169519912	Silent	SNP	A	TCGA-WC-A882-01A-11D-A39W-08	3855293	169519912	79730709	2	1207											
ERBB4	2066	broad.mit.edu	37	chr2	212484000	212484000	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttcaggtacccaaatacCctttggggaaaaaaatttac	14	11	6	10	0	1	0	1	0	0	0	2	1	2	1	3	3	3	1	3	3	7	6			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr2:212484000C>A	ENST00000342788.4	-	19	2513	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	735	Protein kinase.				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)		ACCCAAATACCCTTTGGGGAA	0.338										TSP Lung(8;0.080)			11	36					0.000673444	0.000705513	1	1	0	A	212484000	C	A	212484000	5	1	68	1	0	0	0	0	0	0	1	0	5237	637	22	5	1763	5	ERBB4	2	212484000	Splice_Site	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		212484000	30715373	3	1208											
SNTN	132203	broad.mit.edu	37	chr3	63638463	63638463	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctgcgcacctaggaaaAtgcccaaaaggtcagtggca	13	5	10	13	1	1	0	1	0	0	0	1	1	1	1	4	3	2	2	4	3	5	1			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:63638463A>T	ENST00000496807.1	+	1	90	c.88A>T	c.(88-90)Atg>Ttg	p.M30L	SNTN_ENST00000343837.3_Missense_Mutation_p.M34L			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	34						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						ACCTAGGAAAATGCCCAAAAG	0.448													13	23					0	0	1	0	0	T	63638463	A	T	63638463	3	4	68	1	0	0	0	0	1	0	0	0	14930	101	4	5	102	5	SNTN	3	63638463	Missense_Mutation	SNP	A	TCGA-WC-A882-01A-11D-A39W-08		63638463	134383967	4	1209											
ZBTB11	27107	broad.mit.edu	37	chr3	101378836	101378836	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacgaataagatgtgctcGcaaagaggcactgtactgaa	15	8	11	7	2	0	4	0	2	0	2	1	5	0	4	0	1	2	4	0	1	5	2			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:101378836G>A	ENST00000312938.4	-	6	2417	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTGCTCGCAAAGAGGCA	0.378													3	52					0	0	1	0	0	A	101378836	G	A	101378836	4	1	68	1	0	0	0	0	0	1	0	0	17583	1095	38	1	1348	1	ZBTB11	3	101378836	Nonsense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08	37740373	101378836	96643594	5	1210											
ZNF518B	85460	broad.mit.edu	37	chr4	10444852	10444852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccagcacttaaatacaCactgtgaagaatcatcaggc	18	7	6	10	0	2	2	2	1	0	1	2	2	2	2	1	1	3	1	1	1	7	2			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr4:10444852C>T	ENST00000326756.3	-	3	3539	c.3101G>A	c.(3100-3102)tGt>tAt	p.C1034Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1034					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTAAATACACACTGTGAAGA	0.393													18	40					0	0	1	0	0	T	10444852	C	T	10444852	3	4	68	1	0	0	0	0	1	0	0	0	18020	478	17	3	127	3	ZNF518B	4	10444852	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		10444852	180709424	6	1211											
PCDHGB4	0	broad.mit.edu	37	chr5	140769318	140769318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggggctgcgcacgggcGaagtgcgcacagcgcgtgcc	5	4	18	14	6	0	0	0	0	0	0	0	1	0	0	2	3	4	3	2	3	1	0			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr5:140769318G>A	ENST00000519479.1	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGGCGAAGTGCGCAC	0.697													22	43					0	0	1	0	0	A	140769318	G	A	140769318	3	1	68	1	0	0	0	0	1	0	0	0	11612	1059	37	1	1869	1	PCDHGB4	5	140769318	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		140769318	40145942	7	1212											
LAMA2	3908	broad.mit.edu	37	chr6	129663539	129663539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaacgatgtgctcttggaTactatggaattgtcaaggga	11	12	13	5	1	2	1	1	1	1	0	2	5	2	4	0	3	3	1	0	3	5	4			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr6:129663539T>C	ENST00000421865.2	+	30	4412	c.4363T>C	c.(4363-4365)Tac>Cac	p.Y1455H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1455	Laminin EGF-like 15.				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			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)		TGCTCTTGGATACTATGGAAT	0.373													22	56					0	0	1	0	0	C	129663539	T	C	129663539	3	2	68	1	0	0	0	0	1	0	0	0	8645	1406	49	4	4481	4	LAMA2	6	129663539	Missense_Mutation	SNP	T	TCGA-WC-A882-01A-11D-A39W-08		129663539	41451528	8	1213											
ZNF511	118472	broad.mit.edu	37	chr10	135123360	135123360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgagcaccactaccacaCgctgcacggaaatgtttgct	11	8	8	14	3	0	0	0	0	0	0	0	2	0	1	2	1	5	5	2	1	3	3			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr10:135123360C>T	ENST00000359035.3	+	3	311	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M			Q8NB15	ZN511_HUMAN	zinc finger protein 511	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CACTACCACACGCTGCACGGA	0.622													19	28					0	0	1	0	0	T	135123360	C	T	135123360	3	4	68	1	0	0	0	0	1	0	0	0	18012	536	19	1	318	1	ZNF511	10	135123360	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		135123360	411387	9	1214											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112330858	112330858	+	Frame_Shift_Del	DEL	C	C	-																															gcaaaccacgtcccacgaatCccaataatgacagcttcaga																										TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr12:112330858delC	ENST00000550735.2	+	14	2165	c.1409delC	c.(1408-1410)tccfs	p.S470fs	MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.S472fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	472					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TCCCACGAATCCCAATAATGA	0.303													2	4	---	---	---	---						-	112330858	C	-	112330858	7	5	68	1	0	1	0	1	0	0	0	0	9341	855	30	0	1469	0	MAPKAPK5	12	112330858	Frame_Shift_Del	DEL	C	TCGA-WC-A882-01A-11D-A39W-08		112330858	21521037	10	1215											
SHF	90525	broad.mit.edu	37	chr15	45464122	45464122	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgctggtctcactgttGcgcaccaggtagctggcctc	4	13	11	13	1	2	0	1	0	2	0	4	0	2	0	2	3	3	5	2	3	1	4			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr15:45464122G>A	ENST00000560471.1	-	6	1240	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	SHF_ENST00000290894.8_Silent_p.R348R|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron			B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCTCACTGTTGCGCACCAGGT	0.582													14	14					0	0	1	0	0	A	45464122	G	A	45464122	4	1	68	1	0	0	0	0	0	1	0	0	14332	1306	46	2	235	2	SHF	15	45464122	Nonsense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		45464122	57067270	11	1216											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								14	21					0	0	1	0	0	T	3118942	A	T	3118942	3	4	68	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A882-01A-11D-A39W-08		3118942	56010041	12	1217											
PPP2R1A	5518	broad.mit.edu	37	chr19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccccatggtgcggcGggccgcagcctccaagctgg	6	5	14	16	3	0	1	0	1	0	0	1	1	1	1	5	4	3	2	5	4	1	0			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|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 cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|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	p.R183Q(10)		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)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma								15	31					0	0	1	0	0	A	52715983	G	A	52715983	3	1	68	1	0	0	0	0	1	0	0	0	12431	1116	39	1	566	1	PPP2R1A	19	52715983	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08	49597041	52715983	6413000	13	1218											
MYO18B	84700	broad.mit.edu	37	chr22	26422803	26422803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacgactggggcctccaCactaaggaggggcagggctg	9	4	16	12	1	0	1	0	0	0	1	1	3	1	2	3	6	0	2	3	6	1	1			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr22:26422803C>A	ENST00000335473.7	+	43	7113	c.6863C>A	c.(6862-6864)aCa>aAa	p.T2288K	MYO18B_ENST00000407587.2_Missense_Mutation_p.T2289K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2288						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						GGGGCCTCCACACTAAGGAGG	0.642													2	2					1	1	1	1	0	A	26422803	C	A	26422803	3	1	68	1	0	0	0	0	1	0	0	0	10114	478	17	5	7029	5	MYO18B	22	26422803	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		26422803	24881763	14	1219											
JAK1	3716	broad.mit.edu	37	chr1	65339052	65339052	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgggcccaaacttcctaCctgagcaaacagatactcca	12	8	6	15	0	0	2	0	1	0	1	3	2	3	2	5	1	5	1	5	1	4	3			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:65339052C>T	ENST00000342505.4	-	5	732		c.e5+1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus 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)		AAACTTCCTACCTGAGCAAAC	0.502			Mis		ALL								7	3					0	0	1	0	0	T	65339052	C	T	65339052	5	4	69	1	0	0	0	0	0	0	1	0	7981	521	18	3	3064	3	JAK1	1	65339052	Splice_Site	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		65339052	183911569	1	1220											
PROX1	5629	broad.mit.edu	37	chr1	214169914	214169914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcacagccctcttaagccgGcaaaccaagaggagaagagt	15	4	11	11	1	1	3	0	0	1	3	1	4	1	3	3	2	4	2	3	2	4	1			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:214169914G>A	ENST00000366958.4	+	2	644	c.36G>A	c.(34-36)cgG>cgA	p.R12R	PROX1_ENST00000498508.2_Silent_p.R12R|PROX1_ENST00000261454.4_Silent_p.R12R|PROX1_ENST00000435016.1_Silent_p.R12R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	12					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTTAAGCCGGCAAACCAAGA	0.498													3	56					0	0	1	0	0	A	214169914	G	A	214169914	2	1	69	1	0	0	0	0	0	0	0	1	12612	1190	42	2		2	PROX1	1	214169914	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08	148830862	214169914	35080707	2	1221											
GLB1L	79411	broad.mit.edu	37	chr2	220107630	220107630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctcgtggtagttccAgggcacataactgagaaagg	10	9	14	8	1	0	1	0	1	0	1	2	2	1	1	1	4	1	4	1	4	3	3			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr2:220107630A>G	ENST00000295759.7	-	4	563	c.250T>C	c.(250-252)Tgg>Cgg	p.W84R	GLB1L_ENST00000409640.1_Missense_Mutation_p.W84R|GLB1L_ENST00000356283.3_Missense_Mutation_p.W84R|GLB1L_ENST00000392089.2_Missense_Mutation_p.W84R			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	84					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)		TGGTAGTTCCAGGGCACATAA	0.537													3	44					0	0	1	0	0	G	220107630	A	G	220107630	3	3	69	1	0	0	0	0	1	0	0	0	6470	188	7	4	1770	4	GLB1L	2	220107630	Missense_Mutation	SNP	A	TCGA-WC-A883-01A-12D-A39W-08		220107630	23091743	3	1222											
NOP14	8602	broad.mit.edu	37	chr4	2951844	2951844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcctctgtgtcctcccCgcctgaactgtcaccttctt	3	14	6	18	1	4	1	1	1	3	0	7	1	6	1	6	0	1	1	6	0	1	2	rs145122268		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:2951844C>T	ENST00000416614.2	-	8	1164	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	NOP14_ENST00000502735.1_Missense_Mutation_p.G367R|NOP14_ENST00000314262.6_Missense_Mutation_p.G367R|NOP14_ENST00000398071.4_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	367					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GTGTCCTCCCCGCCTGAACTG	0.532													64	82					0	0	1	0	0	T	2951844	C	T	2951844	3	4	69	1	0	0	0	0	1	0	0	0	10583	652	23	1	1518	1	NOP14	4	2951844	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		2951844	188202432	4	1223											
UBA6	55236	broad.mit.edu	37	chr4	68530982	68530982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccagttctgtggtgtcAccaatactaaaagaaaatgg	13	11	10	7	0	2	1	1	0	1	1	3	1	3	1	2	3	1	2	2	3	6	4			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:68530982A>G	ENST00000322244.5	-	10	881	c.822T>C	c.(820-822)ggT>ggC	p.G274G	UBA6_ENST00000420827.2_Silent_p.G274G	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						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						CTGTGGTGTCACCAATACTAA	0.299													30	40					0	0	1	0	0	G	68530982	A	G	68530982	2	3	69	1	0	0	0	0	0	0	0	1	16893	146	6	4		4	UBA6	4	68530982	Silent	SNP	A	TCGA-WC-A883-01A-12D-A39W-08	65579138	68530982	122623294	5	1224											
DBN1	1627	broad.mit.edu	37	chr5	176886684	176886686	+	In_Frame_Del	DEL	GAG	GAG	-																															gtggaggggaggaggaggaaGaggaggaggaggaaggccca																										TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr5:176886684_176886686delGAG	ENST00000393565.1	-	11	1126_1128	c.1011_1013delCTC	c.(1009-1014)tcctct>tct	p.337_338SS>S	DBN1_ENST00000512501.1_Intron|DBN1_ENST00000309007.5_Intron|DBN1_ENST00000393563.4_Intron|DBN1_ENST00000292385.5_Intron			Q16643	DREB_HUMAN	drebrin 1	319					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)			ggaggaggaagaggaggaggagg	0.591													2	4	---	---	---	---						-	176886686	GAG	-	176886684	7	5	69	1	0	1	0	1	0	0	0	0	4276	957	33	0		0	DBN1	5	176886684	In_Frame_Del	DEL	GAG	TCGA-WC-A883-01A-12D-A39W-08		176886684	4028576	6	1225											
BCKDHB	594	broad.mit.edu	37	chr6	80816425	80816425	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggggatggcggttgtagcGgcggctgccggctggctact	3	8	20	10	5	0	0	0	0	0	0	0	1	0	1	1	8	3	5	1	8	2	3			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr6:80816425G>C	ENST00000545529.1	+	1	43	c.15G>C	c.(13-15)gcG>gcC	p.A5A	BCKDHB_ENST00000320393.6_Silent_p.A5A|BCKDHB_ENST00000356489.5_Silent_p.A5A|BCKDHB_ENST00000369760.4_Silent_p.A5A			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	5					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CGGTTGTAGCGGCGGCTGCCG	0.726													2	0					0	0	1	0	0	C	80816425	G	C	80816425	2	2	69	1	0	0	0	0	0	0	0	1	1358	1103	39	5		5	BCKDHB	6	80816425	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08		80816425	90298642	7	1226											
CYC1	1537	broad.mit.edu	37	chr8	145151500	145151501	+	In_Frame_Ins	INS	-	-	ACTACT																															tcctaggcatggtggtgaggINSactacgtcttctccctgctc																										TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145151500_145151501insACTACT	ENST00000318911.4	+	5	698_699	c.625_626insACTACT	c.(625-627)gac>gACTACTac	p.209_210insYY		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	209	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGGTGAGGACTACGTCTTC	0.604											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	142	---	---	---	---						ACTACT	145151501	-	ACTACT	145151500	7	5	69	1	0	1	1	0	0	0	0	0	4158	1174	41	0	643	0	CYC1	8	145151500	In_Frame_Ins	INS	-	TCGA-WC-A883-01A-12D-A39W-08		145151500	1212522	8	1227											
ZNF251	90987	broad.mit.edu	37	chr8	145947729	145947729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactccgacgaaaggctttgCcgcactcattacaaacatag	14	8	7	12	3	1	0	1	0	0	0	2	2	2	0	2	1	4	2	2	1	5	3			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145947729C>T	ENST00000292562.7	-	5	1591	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	439					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)		AAAGGCTTTGCCGCACTCATT	0.468													4	174					0	0	1	0	0	T	145947729	C	T	145947729	3	4	69	1	0	0	0	0	1	0	0	0	17854	739	26	2	703	2	ZNF251	8	145947729	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08	796229	145947729	416293	9	1228											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								24	38					0	0	1	0	0	G	80409488	T	G	80409488	3	3	69	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A883-01A-12D-A39W-08		80409488	60803943	10	1229											
ZNF462	58499	broad.mit.edu	37	chr9	109691298	109691298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcaagtgtgccctgtGtgcctacaccaaccccatcc	7	10	6	18	0	2	0	1	0	1	0	3	0	3	0	7	0	4	0	7	0	3	2			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:109691298G>A	ENST00000277225.5	+	3	5394	c.5105G>A	c.(5104-5106)tGt>tAt	p.C1702Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.C1702Y|ZNF462_ENST00000441147.2_Missense_Mutation_p.C547Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1702					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						TGTGCCCTGTGTGCCTACACC	0.572													9	17					0	0	1	0	0	A	109691298	G	A	109691298	3	1	69	1	0	0	0	0	1	0	0	0	17983	1377	48	3	5111	3	ZNF462	9	109691298	Missense_Mutation	SNP	G	TCGA-WC-A883-01A-12D-A39W-08	29281810	109691298	31522133	11	1230											
USP15	9958	broad.mit.edu	37	chr12	62777866	62777866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attatccttgtaggtggttgCcgaagaagcctgggaaaacc	11	10	12	8	1	0	1	0	0	0	1	1	3	1	2	4	3	3	2	4	3	6	4			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr12:62777866C>T	ENST00000280377.5	+	11	1314	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	USP15_ENST00000393654.3_Missense_Mutation_p.A394V|USP15_ENST00000353364.3_Missense_Mutation_p.A390V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	419					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGTGGTTGCCGAAGAAGCC	0.348													25	33					0	0	1	0	0	T	62777866	C	T	62777866	3	4	69	1	0	0	0	0	1	0	0	0	17106	739	26	2	1207	2	USP15	12	62777866	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		62777866	71074029	12	1231											
ADCY4	196883	broad.mit.edu	37	chr14	24803705	24803705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctcggctcaccctgcCgctggcccaggccactgcga	6	5	13	17	3	1	1	1	0	0	1	2	2	1	1	4	4	2	3	4	4	0	0			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr14:24803705C>T	ENST00000310677.4	-	2	267	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.G52S|ADCY4_ENST00000396747.3_5'UTR|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000554068.2_Missense_Mutation_p.G52S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	52					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	adenylate cyclase activity|ATP binding|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)		CTCACCCTGCCGCTGGCCCAG	0.637													4	1					0	0	1	0	0	T	24803705	C	T	24803705	3	4	69	1	0	0	0	0	1	0	0	0	295	652	23	1	3179	1	ADCY4	14	24803705	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		24803705	82545835	13	1232											
PSG4	5672	broad.mit.edu	37	chr19	43708091	43708091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagtcccatcgcgtcgcTttatgatgtgtaaggtgtag	7	13	11	10	3	0	1	0	1	0	0	4	1	2	1	2	1	0	3	2	1	3	4			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr19:43708091T>A	ENST00000405312.3	-	2	614	c.377A>T	c.(376-378)aAg>aTg	p.K126M	PSG4_ENST00000244295.9_Missense_Mutation_p.K126M|PSG4_ENST00000433626.2_Missense_Mutation_p.K126M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	126	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCGCGTCGCTTTATGATGTG	0.507													75	117					0	0	1	0	0	A	43708091	T	A	43708091	3	1	69	1	0	0	0	0	1	0	0	0	12706	1609	56	5	902	5	PSG4	19	43708091	Missense_Mutation	SNP	T	TCGA-WC-A883-01A-12D-A39W-08		43708091	15420892	14	1233											
MATN4	8785	broad.mit.edu	37	chr20	43926902	43926902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaggcacgttaagggcaCggggccgtgcaccctgcgcc	7	4	15	15	5	0	0	0	0	0	0	0	1	0	0	3	4	2	4	3	4	1	1	rs150948243		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr20:43926902C>T	ENST00000537548.1	-	8	1578	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	MATN4_ENST00000372751.4_Missense_Mutation_p.R296H|MATN4_ENST00000342716.4_Missense_Mutation_p.R445H|MATN4_ENST00000353917.5_Missense_Mutation_p.R363H|MATN4_ENST00000372754.1_Missense_Mutation_p.R486H|MATN4_ENST00000360607.6_Missense_Mutation_p.R404H|MATN4_ENST00000372756.1_Missense_Mutation_p.R445H			O95460	MATN4_HUMAN	matrilin 4	486	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTTAAGGGCACGGGGCCGTGC	0.662													36	16					0	0	1	0	0	T	43926902	C	T	43926902	3	4	69	1	0	0	0	0	1	0	0	0	9386	536	19	1	427	1	MATN4	20	43926902	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		43926902	19098618	15	1234											
EMID1	129080	broad.mit.edu	37	chr22	29621189	29621189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcggcggatggcgcttcgGcccacagccttctcaggtgg	5	8	15	13	4	1	0	1	0	1	0	3	1	1	1	2	6	2	1	2	6	0	2			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr22:29621189G>T	ENST00000334018.6	+	4	575	c.387G>T	c.(385-387)cgG>cgT	p.R129R	EMID1_ENST00000404820.3_Silent_p.R129R|EMID1_ENST00000404755.3_Silent_p.R129R|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	127						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGCGCTTCGGCCCACAGCCT	0.627													26	34					1.77063e-15	1.77063e-15	1	1	0	T	29621189	G	T	29621189	2	4	69	1	0	0	0	0	0	0	0	1	5119	1190	42	5		5	EMID1	22	29621189	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08		29621189	21683377	16	1235											
DGKK	139189	broad.mit.edu	37	chrX	50213356	50213356	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccggttctggggccggctCtgtggcaggttctggggccg	1	9	20	11	3	3	0	0	0	3	0	3	0	3	0	3	9	0	4	3	9	0	2			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chrX:50213356C>G	ENST00000376025.2	-	0	381							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggggccggctctgtggcaggt	0.667													78	89					0	0	1	0	0	G	50213356	C	G	50213356	1	3	69	0	1	0	0	0	0	0	0	0	4500	922	32	5		5	DGKK	23	50213356	RNA	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		50213356	105057204	17	1236											
UBR4	23352	broad.mit.edu	37	chr1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatcttcctcttccaccGccaactcctccacccagtct	7	10	5	19	1	3	0	0	0	3	0	7	1	7	1	7	1	1	0	7	1	2	2			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:19488948G>A	ENST00000375267.2	-	35	4925	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641					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)		CTCTTCCACCGCCAACTCCTC	0.502													4	152					0	0	1	0	0	A	19488948	G	A	19488948	3	1	70	1	0	0	0	0	1	0	0	0	16965	1087	38	1	10917	1	UBR4	1	19488948	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		19488948	229761673	1	1237											
PTCH2	8643	broad.mit.edu	37	chr1	45293304	45293304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgaggcaccacatccGtcagggccaggccgtcttgc	6	6	12	17	3	2	0	1	0	1	0	3	1	3	0	6	3	2	1	6	3	0	1			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:45293304G>A	ENST00000447098.2	-	15	2152	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PTCH2_ENST00000372192.3_Missense_Mutation_p.T714M	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	714					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACCACATCCGTCAGGGCCAG	0.632									Basal Cell Nevus syndrome				29	43					0	0	1	0	0	A	45293304	G	A	45293304	3	1	70	1	0	0	0	0	1	0	0	0	12780	1145	40	1	1522	1	PTCH2	1	45293304	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08	25804356	45293304	203957317	2	1238											
ALCAM	214	broad.mit.edu	37	chr3	105253508	105253508	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttattttcttcagcGgtggtcataatttttaaaaa	10	20	6	5	1	4	0	2	0	2	0	4	0	4	0	0	2	1	1	0	2	5	10			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253508G>C	ENST00000306107.5	+	6	1049	c.549G>C	c.(547-549)gcG>gcC	p.A183A	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Splice_Site_p.A183A|ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000486979.2_Splice_Site_p.A132A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	183	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						TTTCTTCAGCGGTGGTCATAA	0.403													4	98					0	0	1	0	0	C	105253508	G	C	105253508	5	2	70	1	0	0	0	0	0	0	1	0	484	1130	39	5	571	5	ALCAM	3	105253508	Splice_Site	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		105253508	92768922	3	1239			1	7		2	2	33	N	G_C	1.96401e-05
ALCAM	214	broad.mit.edu	37	chr3	105253540	105253540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaaaggaaatggaccCagtgactcagctctatacca	15	10	7	9	0	2	1	1	1	1	0	2	3	2	3	2	2	2	1	2	2	6	4			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253540C>A	ENST00000306107.5	+	6	1081	c.581C>A	c.(580-582)cCa>cAa	p.P194Q	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.P194Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.P3Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.P143Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	194	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						GAAATGGACCCAGTGACTCAG	0.418													4	150					2.56e-06	2.92571e-06	1	1	0	A	105253540	C	A	105253540	3	1	70	1	0	0	0	0	1	0	0	0	484	594	21	5	603	5	ALCAM	3	105253540	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	32	105253540	92768890	4	1240			1	7		2	2	33	N	G_C	1.96401e-05
TRIM7	81786	broad.mit.edu	37	chr5	180622297	180622297	+	Frame_Shift_Del	DEL	C	C	-																															gtagaaggacacggctcccaCctccaggtccagggccaccc																										TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr5:180622297delC	ENST00000393315.1	-	7	1478	c.781delG	c.(781-783)gtgfs	p.V261fs	TRIM7_ENST00000422067.2_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Frame_Shift_Del_p.V287fs|TRIM7_ENST00000361809.3_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000274773.7_Frame_Shift_Del_p.V469fs	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	469						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)		ACGGCTCCCACCTCCAGGTCC	0.672													2	4	---	---	---	---						-	180622297	C	-	180622297	7	5	70	1	0	1	0	1	0	0	0	0	16604	507	18	0	134	0	TRIM7	5	180622297	Frame_Shift_Del	DEL	C	TCGA-WC-A884-01A-11D-A39W-08		180622297	292963	5	1241											
PHF3	23469	broad.mit.edu	37	chr6	64423006	64423006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgccacctccattacttcCccctccaggctttggctttg	4	15	6	16	0	0	0	0	0	0	0	3	0	3	0	6	2	2	2	6	2	1	5			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr6:64423006C>A	ENST00000262043.3	+	16	5862	c.5522C>A	c.(5521-5523)cCc>cAc	p.P1841H	PHF3_ENST00000393387.1_Missense_Mutation_p.P1841H			Q92576	PHF3_HUMAN	PHD finger protein 3	1841	Pro-rich.				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)			CCATTACTTCCCCCTCCAGGC	0.517													4	171					0.014758	0.0157419	1	1	0	A	64423006	C	A	64423006	3	1	70	1	0	0	0	0	1	0	0	0	11884	623	22	5	5580	5	PHF3	6	64423006	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		64423006	106692061	6	1242											
UNC13B	10497	broad.mit.edu	37	chr9	35380591	35380591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttggccaaaccatcattGaggttcggaccctaagtggc	9	10	10	12	1	1	1	1	1	0	0	3	2	2	2	4	4	1	1	4	4	2	4			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr9:35380591G>A	ENST00000378495.3	+	17	2305	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E707K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E695K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	695					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|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)			AACCATCATTGAGGTTCGGAC	0.493													4	86					0	0	1	0	0	A	35380591	G	A	35380591	3	1	70	1	0	0	0	0	1	0	0	0	17045	1291	45	3	2149	3	UNC13B	9	35380591	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		35380591	105832840	7	1243											
OR51I2	390064	broad.mit.edu	37	chr11	5475623	5475623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaaaggaaatccgccgagCcattttccgcatgtttcacc	11	9	8	13	3	1	0	1	0	0	0	3	3	3	1	5	1	1	2	5	1	2	3			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:5475623C>T	ENST00000341449.2	+	1	986	c.905C>T	c.(904-906)gCc>gTc	p.A302V	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCGCCGAGCCATTTTCCGC	0.433													4	121					0	0	1	0	0	T	5475623	C	T	5475623	3	4	70	1	0	0	0	0	1	0	0	0	11149	739	26	2	907	2	OR51I2	11	5475623	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		5475623	129530893	8	1244											
TMEM179B	374395	broad.mit.edu	37	chr11	62557411	62557411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtcttggtgctccaggtCgtgcagtggaagtctgaagc	6	11	16	8	1	2	1	0	1	2	0	4	2	3	2	1	4	3	2	1	4	2	1	rs149169067		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:62557411C>T	ENST00000333449.4	+	5	557	c.552C>T	c.(550-552)gtC>gtT	p.V184V	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	184						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGCTCCAGGTCGTGCAGTGGA	0.557													8	137					0	0	1	0	0	T	62557411	C	T	62557411	2	4	70	1	0	0	0	0	0	0	0	1	16157	871	31	1		1	TMEM179B	11	62557411	Silent	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	57081788	62557411	72449105	9	1245											
UPK2	7379	broad.mit.edu	37	chr11	118827106	118827106	+	Frame_Shift_Del	DEL	C	C	-																															ccttgcccttgatcctgattCtgctggctctgctgtcccca																										TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:118827106delC	ENST00000264031.2	+	1	81	c.46delC	c.(46-48)ctgfs	p.L17fs	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	17					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GATCCTGATTCTGCTGGCTCT	0.647													9	93	---	---	---	---						-	118827106	C	-	118827106	7	5	70	1	0	1	0	1	0	0	0	0	17069	912	32	0	48	0	UPK2	11	118827106	Frame_Shift_Del	DEL	C	TCGA-WC-A884-01A-11D-A39W-08	56269695	118827106	16179410	10	1246											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													9	36					0	0	1	0	0	C	3649787	T	C	3649787	3	2	70	1	0	0	0	0	1	0	0	0	12594	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08		3649787	130202108	11	1247											
BEST3	144453	broad.mit.edu	37	chr12	70087541	70087541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagggaggtgagattgaCgtagcgcatcagcgtccttc	9	8	15	9	3	1	2	1	2	0	1	3	5	2	3	1	2	3	3	1	2	1	3	rs117505973	by1000genomes	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:70087541C>T	ENST00000330891.5	-	4	620	c.394G>A	c.(394-396)Gtc>Atc	p.V132I	BEST3_ENST00000331471.4_Missense_Mutation_p.V132I|BEST3_ENST00000266661.4_Missense_Mutation_p.V26I|BEST3_ENST00000553096.1_Missense_Mutation_p.V26I|BEST3_ENST00000393365.1_Missense_Mutation_p.V26I|BEST3_ENST00000551160.1_Missense_Mutation_p.V26I|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000533674.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGATTGACGTAGCGCATC	0.532													19	49					0	0	1	0	0	T	70087541	C	T	70087541	3	4	70	1	0	0	0	0	1	0	0	0	1404	536	19	1	1640	1	BEST3	12	70087541	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	66437754	70087541	63764354	12	1248											
CUX2	23316	broad.mit.edu	37	chr12	111748381	111748381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccggcccaagccctggCgcaagctcacggtgaagggc	8	4	14	15	3	1	1	1	1	0	0	1	1	1	1	3	4	3	2	3	4	4	1			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:111748381C>T	ENST00000261726.6	+	15	1949	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAAGCCCTGGCGCAAGCTCAC	0.607													12	78					0	0	1	0	0	T	111748381	C	T	111748381	3	4	70	1	0	0	0	0	1	0	0	0	4088	768	27	1	1853	1	CUX2	12	111748381	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	41660840	111748381	22103514	13	1249											
RPL36AL	6166	broad.mit.edu	37	chr14	50085633	50085633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccttagcacaatcttctTtgtggtcttagccttcttcc	6	16	6	13	0	4	0	0	0	4	0	5	0	5	0	3	1	3	1	3	1	3	6			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr14:50085633T>C	ENST00000298289.6	-	2	349	c.190A>G	c.(190-192)Aag>Gag	p.K64E		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	64					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					ACAATCTTCTTTGTGGTCTTA	0.483													25	146					0	0	1	0	0	C	50085633	T	C	50085633	3	2	70	1	0	0	0	0	1	0	0	0	13640	1850	64	4	134	4	RPL36AL	14	50085633	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08		50085633	57263907	14	1250											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								23	29					0	0	1	0	0	T	3118942	A	T	3118942	3	4	70	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A884-01A-11D-A39W-08		3118942	56010041	15	1251											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	1	2	3	3	1	2	5	7			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403													4	148					0	0	1	0	0	T	12575380	C	T	12575380	2	4	70	1	0	0	0	0	0	0	0	1	18169	564	20	3		3	ZNF709	19	12575380	Silent	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	9456438	12575380	46553603	16	1252											
EIF1AX	1964	broad.mit.edu	37	chrX	20156735	20156735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtctgtttttacctcCtttacctgatggtttaaaaa	8	17	6	10	1	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	5	7			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:20156735C>G	ENST00000379607.5	-	2	225	c.22G>C	c.(22-24)Gga>Cga	p.G8R	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308													35	30					0	0	1	0	0	G	20156735	C	G	20156735	3	3	70	1	0	0	0	0	1	0	0	0	5018	690	24	5	436	5	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		20156735	135113825	17	1253											
FAM47A	158724	broad.mit.edu	37	chrX	34148577	34148577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaagaattcacggagttTttccgatgtgtatctatatt	10	17	8	6	2	2	2	1	1	1	1	3	4	3	3	1	1	0	2	1	1	5	8			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:34148577T>C	ENST00000346193.3	-	1	1870	c.1819A>G	c.(1819-1821)Aaa>Gaa	p.K607E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	607										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						TCACGGAGTTTTTCCGATGTG	0.438													30	33					0	0	1	0	0	C	34148577	T	C	34148577	3	2	70	1	0	0	0	0	1	0	0	0	5605	1850	64	4	560	4	FAM47A	23	34148577	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08	13991842	34148577	121121983	18	1254											
LONRF3	79836	broad.mit.edu	37	chrX	118109321	118109321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccgaccggcgctgtgCgctgtgcggggtcaagctct	3	7	17	14	6	2	0	1	0	1	0	2	1	2	0	3	4	3	3	3	4	1	0			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:118109321C>T	ENST00000304778.7	+	1	741	c.578C>T	c.(577-579)gCg>gTg	p.A193V	LONRF3_ENST00000371628.3_Missense_Mutation_p.A193V	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	193					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CGGCGCTGTGCGCTGTGCGGG	0.677													3	33					0	0	1	0	0	T	118109321	C	T	118109321	3	4	70	1	0	0	0	0	1	0	0	0	8941	768	27	1	580	1	LONRF3	23	118109321	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	83960744	118109321	37161239	19	1255											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	8	11	11	11	2	2	3	0	2	2	1	3	3	2	3	2	3	1	3	2	3	3	3	rs146031719	byFrequency	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				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)		GCTCTAGACCGCAACGCCTCT	0.478													4	154					0	0	1	0	0	A	23418504	G	A	23418504	3	1	71	1	0	0	0	0	1	0	0	0	9131	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		23418504	225832117	1	1256											
ESRRG	2104	broad.mit.edu	37	chr1	216692613	216692613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaagaaggcctgctaatTtggactggtcttcgtccatt	9	13	10	9	1	2	1	1	0	1	1	4	3	3	2	2	3	1	1	2	3	3	4			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:216692613T>C	ENST00000391890.3	-	8	1482	c.965A>G	c.(964-966)aAa>aGa	p.K322R	ESRRG_ENST00000360012.3_Missense_Mutation_p.K315R|ESRRG_ENST00000493603.1_Missense_Mutation_p.K315R|ESRRG_ENST00000366937.1_Missense_Mutation_p.K350R|ESRRG_ENST00000359162.2_Missense_Mutation_p.K315R|ESRRG_ENST00000361525.3_Missense_Mutation_p.K315R|ESRRG_ENST00000366940.2_Missense_Mutation_p.K315R|ESRRG_ENST00000487276.1_Missense_Mutation_p.K315R|ESRRG_ENST00000408911.3_Missense_Mutation_p.K338R|ESRRG_ENST00000463665.1_Missense_Mutation_p.K276R|ESRRG_ENST00000493748.1_Missense_Mutation_p.K315R|ESRRG_ENST00000366938.2_Missense_Mutation_p.K315R|ESRRG_ENST00000361395.2_Missense_Mutation_p.K315R	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	338					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCTGCTAATTTGGACTGGTC	0.403													37	38					0	0	1	0	0	C	216692613	T	C	216692613	3	2	71	1	0	0	0	0	1	0	0	0	5290	1841	64	4	371	4	ESRRG	1	216692613	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08	193274109	216692613	32558008	2	1257											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								20	25					0	0	1	0	0	T	198267483	C	T	198267483	3	4	71	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		198267483	44931890	3	1258											
HGFAC	3083	broad.mit.edu	37	chr4	3446075	3446075	+	Frame_Shift_Del	DEL	G	G	-																															acccgctacgagtacctggaGgggggcgaccgctgggcccg																										TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr4:3446075delG	ENST00000382774.3	+	6	751	c.636delG	c.(634-636)gagfs	p.E212fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.E212fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	212	Fibronectin type-I.				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)		AGTACCTGGAGGGGGGCGACC	0.682													2	4	---	---	---	---						-	3446075	G	-	3446075	7	5	71	1	0	1	0	1	0	0	0	0	7127	991	35	0	658	0	HGFAC	4	3446075	Frame_Shift_Del	DEL	G	TCGA-WC-A885-01A-11D-A39W-08		3446075	187708201	4	1259											
FAM198B	51313	broad.mit.edu	37	chr4	159076823	159076823	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatgtatttcagtacaAcccgattcaggcttgggtac	10	13	10	8	1	2	2	2	2	0	0	2	3	2	2	1	2	3	4	1	2	4	6			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr4:159076823A>G	ENST00000296530.8	-	3	1686	c.1065T>C	c.(1063-1065)ggT>ggC	p.G355G	FAM198B_ENST00000585682.1_Silent_p.G355G|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Silent_p.G363G	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	355						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTTCAGTACAACCCGATTCAG	0.418													25	33					0	0	1	0	0	G	159076823	A	G	159076823	2	3	71	1	0	0	0	0	0	0	0	1	5561	30	2	4		4	FAM198B	4	159076823	Silent	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	155630748	159076823	32077453	5	1260											
FASTKD3	79072	broad.mit.edu	37	chr5	7859575	7859575	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaccaatgaacagtgttTtgagaaaacagttttctttg	13	14	8	6	0	1	2	0	2	1	1	1	3	1	2	1	0	4	3	1	0	5	5			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr5:7859575T>C	ENST00000264669.5	-	7	2098	c.1962A>G	c.(1960-1962)caA>caG	p.Q654Q	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	654					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						GAACAGTGTTTTGAGAAAACA	0.318													16	24					0	0	1	0	0	C	7859575	T	C	7859575	2	2	71	1	0	0	0	0	0	0	0	1	5720	1838	64	4		4	FASTKD3	5	7859575	Silent	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		7859575	173055685	6	1261											
NIPBL	25836	broad.mit.edu	37	chr5	37064956	37064956	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaagttgttcagactttaCgatccctgtatgccgccaag	11	12	8	10	2	1	1	1	0	0	1	2	2	2	1	3	0	2	3	3	0	5	6			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr5:37064956C>T	ENST00000282516.8	+	47	8876	c.8377C>T	c.(8377-8379)Cga>Tga	p.R2793*		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2793					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)			TCAGACTTTACGATCCCTGTA	0.363													3	55					0	0	1	0	0	T	37064956	C	T	37064956	4	4	71	1	0	0	0	0	0	1	0	0	10475	528	19	1	8604	1	NIPBL	5	37064956	Nonsense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	29205381	37064956	143850304	7	1262											
ATXN1	6310	broad.mit.edu	37	chr6	16327258	16327258	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgaccgtgtggggtgaGagcgcgtaggaccggtggcc	7	7	19	8	4	0	3	0	3	0	1	0	5	0	4	3	5	1	1	3	5	2	1			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:16327258G>C	ENST00000244769.4	-	8	2220	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	ATXN1_ENST00000436367.1_Silent_p.L428L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	428					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGTGGGGTGAGAGCGCGTAGG	0.607													47	145					0	0	1	0	0	C	16327258	G	C	16327258	2	2	71	1	0	0	0	0	0	0	0	1	1207	929	33	5		5	ATXN1	6	16327258	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		16327258	154787809	8	1263											
TRIM15	89870	broad.mit.edu	37	chr6	30135042	30135042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaccagaagcttcaagtGctgctggtacaggccacgtc	11	7	12	11	1	1	2	1	0	0	2	2	3	1	2	2	2	4	4	2	2	4	2			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:30135042G>A	ENST00000376694.4	+	2	940	c.471G>A	c.(469-471)gtG>gtA	p.V157V	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	157					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGCTTCAAGTGCTGCTGGTAC	0.502													91	40					0	0	1	0	0	A	30135042	G	A	30135042	2	1	71	1	0	0	0	0	0	0	0	1	16551	1306	46	2		2	TRIM15	6	30135042	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	13807784	30135042	140980025	9	1264											
TRERF1	55809	broad.mit.edu	37	chr6	42196196	42196196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactgctggacgacgtcgtCgtcgaggatgtccacatcct	8	9	11	13	5	0	0	0	0	0	0	5	4	2	2	2	2	2	1	2	2	1	0			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:42196196C>T	ENST00000541110.1	-	18	4118	c.3550G>A	c.(3550-3552)Gac>Aac	p.D1184N	TRERF1_ENST00000372922.4_Missense_Mutation_p.D1164N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1164	Interacts with CREBBP.				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|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.D1164N(1)		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)			ACGACGTCGTCGTCGAGGATG	0.577													54	164					0	0	1	0	0	T	42196196	C	T	42196196	3	4	71	1	0	0	0	0	1	0	0	0	16536	884	31	1	116	1	TRERF1	6	42196196	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	12061154	42196196	128918871	10	1265											
AMZ1	155185	broad.mit.edu	37	chr7	2740257	2740257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacgctcttctgcaccCtgctcatccgcacgggcttc	6	9	10	16	3	3	1	1	0	2	1	5	2	4	2	2	2	2	5	2	2	0	2			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr7:2740257C>G	ENST00000312371.4	+	2	540	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	AMZ1_ENST00000407112.1_Missense_Mutation_p.L58V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	58							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)		CTTCTGCACCCTGCTCATCCG	0.677													50	49					0	0	1	0	0	G	2740257	C	G	2740257	3	3	71	1	0	0	0	0	1	0	0	0	592	680	24	5	174	5	AMZ1	7	2740257	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		2740257	156398406	11	1266											
DNAJB6	10049	broad.mit.edu	37	chr7	157177640	157177656	+	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	CAACTTCAAATCGATAT	-																															tttggtggtagtggcatgggCaacttcaaatcgatatcaac																								rs145897776		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr7:157177640_157177656delCAACTTCAAATCGATAT	ENST00000262177.4	+	7	763_779	c.558_574delCAACTTCAAATCGATAT	c.(556-576)ggcaacttcaaatcgatatcafs	p.NFKSIS187fs	DNAJB6_ENST00000429029.2_Frame_Shift_Del_p.NFKSIS187fs|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Frame_Shift_Del_p.NFKSIS138fs	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	187	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	p.S190S(1)		central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGGCATGGGCAACTTCAAATCGATATCAACTTCAAC	0.396													15	77	---	---	---	---						-	157177656	CAACTTCAAATCGATAT	-	157177640	7	5	71	1	0	1	0	1	0	0	0	0	4651	697	25	0	580	0	DNAJB6	7	157177640	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	TCGA-WC-A885-01A-11D-A39W-08	154437383	157177640	1961023	12	1267											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								32	40					0	0	1	0	0	G	80409488	T	G	80409488	3	3	71	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		80409488	60803943	13	1268											
SLC28A3	64078	broad.mit.edu	37	chr9	86894188	86894188	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatacaatacctgctcaaCagactttggcaacaagctat	16	9	6	10	0	1	2	1	0	0	2	1	2	1	2	1	1	6	3	1	1	8	4			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr9:86894188C>A	ENST00000376238.4	-	17	1990	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.L578L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	647					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCTGCTCAACAGACTTTGGC	0.348													19	29					1.56452e-12	1.61342e-12	1	1	0	A	86894188	C	A	86894188	2	1	71	1	0	0	0	0	0	0	0	1	14588	465	17	5		5	SLC28A3	9	86894188	Silent	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	6484700	86894188	54319243	14	1269											
FGFR2	2263	broad.mit.edu	37	chr10	123298226	123298226	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctccagtgctggtttcGtacctgaaaagatcaaagca	12	9	11	9	1	1	2	1	1	0	1	3	3	2	2	2	2	3	5	2	2	4	2			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr10:123298226G>A	ENST00000358487.5	-	6	900	c.628C>T	c.(628-630)Cga>Tga	p.R210*	FGFR2_ENST00000369060.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000356226.4_Nonsense_Mutation_p.R95*|FGFR2_ENST00000351936.6_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.R210*|FGFR2_ENST00000346997.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000359354.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.R95*|FGFR2_ENST00000357555.5_Nonsense_Mutation_p.R121*|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000360144.3_Nonsense_Mutation_p.R121*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	210	Ig-like C2-type 2.				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 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 ERK1 and ERK2 cascade|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)	TGCTGGTTTCGTACCTGAAAA	0.423		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				30	31					0	0	1	0	0	A	123298226	G	A	123298226	4	1	71	1	0	0	0	0	0	1	0	0	5899	1153	40	1	2145	1	FGFR2	10	123298226	Nonsense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		123298226	12236521	15	1270											
CHST15	51363	broad.mit.edu	37	chr10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcttcccctttttgaagcGcaaaaacccaccccagtttt	9	12	5	15	2	0	1	0	1	0	0	2	1	1	1	5	0	2	3	5	0	3	5	rs145631200		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													3	72					0	0	1	0	0	A	125805512	G	A	125805512	3	1	71	1	0	0	0	0	1	0	0	0	3425	1087	38	1	1496	1	CHST15	10	125805512	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	2507286	125805512	9729235	16	1271											
ALG9	79796	broad.mit.edu	37	chr11	111715342	111715342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatgaaatctctgcagcaGgtattccataagagaagtca	15	9	8	9	0	2	2	1	1	1	1	4	3	3	2	2	1	2	3	2	1	4	3			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr11:111715342G>A	ENST00000398006.2	-	9	1395	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.L163L|ALG9_ENST00000527228.1_5'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	334					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		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)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTCTGCAGCAGGTATTCCATA	0.403													80	90					0	0	1	0	0	A	111715342	G	A	111715342	2	1	71	1	0	0	0	0	0	0	0	1	520	991	35	3		3	ALG9	11	111715342	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		111715342	23291174	17	1272											
SORL1	6653	broad.mit.edu	37	chr11	121429472	121429472	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagtgcatagagcggAtcacgttcagtggccagcag	10	7	14	10	2	2	1	2	0	0	1	2	3	2	3	2	3	3	3	2	3	1	2			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr11:121429472A>T	ENST00000260197.7	+	20	2965	c.2836A>T	c.(2836-2838)Atc>Ttc	p.I946F		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	946					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)		CATAGAGCGGATCACGTTCAG	0.547													24	50					0	0	1	0	0	T	121429472	A	T	121429472	3	4	71	1	0	0	0	0	1	0	0	0	14988	333	12	5	2914	5	SORL1	11	121429472	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	9714130	121429472	13577044	18	1273											
SLC6A13	6540	broad.mit.edu	37	chr12	333591	333591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatccagtcccaggagaacGaccatgaagaagaaacagca	17	4	9	11	1	0	4	0	1	0	3	2	6	2	4	3	1	3	1	3	1	5	1	rs145951312		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:333591G>A	ENST00000343164.4	-	10	1201	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.V291V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	383					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCAGGAGAACGACCATGAAGA	0.597													20	23					0	0	1	0	0	A	333591	G	A	333591	2	1	71	1	0	0	0	0	0	0	0	1	14731	1045	37	1		1	SLC6A13	12	333591	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		333591	133518304	19	1274											
BAZ2A	11176	broad.mit.edu	37	chr12	57003582	57003582	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagctcagtgattttgAccttaggtggccgacctcga	9	12	10	10	2	2	2	2	2	0	0	3	4	2	2	3	2	1	1	3	2	3	4			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:57003582A>C	ENST00000179765.5	-	11	2139	c.1940T>G	c.(1939-1941)gTc>gGc	p.V647G	BAZ2A_ENST00000549884.1_Missense_Mutation_p.V677G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V649G|BAZ2A_ENST00000551812.1_Missense_Mutation_p.V679G			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	679					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTGATTTTGACCTTAGGTGG	0.512													7	14					0	0	1	0	0	C	57003582	A	C	57003582	3	2	71	1	0	0	0	0	1	0	0	0	1329	275	10	5	3761	5	BAZ2A	12	57003582	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	56669991	57003582	76848313	20	1275											
SSH1	54434	broad.mit.edu	37	chr12	109182113	109182113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatcgctgctggagctcCgggtcaggttggagctcatg	5	11	15	10	2	2	0	2	0	0	0	4	2	3	2	1	4	4	6	1	4	1	2			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:109182113C>T	ENST00000326495.5	-	15	2894	c.2801G>A	c.(2800-2802)cGg>cAg	p.R934Q	SSH1_ENST00000360239.3_Missense_Mutation_p.R622Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	934	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGAGCTCCGGGTCAGGTT	0.597													31	31					0	0	1	0	0	T	109182113	C	T	109182113	3	4	71	1	0	0	0	0	1	0	0	0	15240	652	23	1	352	1	SSH1	12	109182113	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	52178531	109182113	24669782	21	1276											
WDR66	144406	broad.mit.edu	37	chr12	122392079	122392079	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatctttcacttgaatttAacacaaatactctcagccac	13	13	2	13	0	3	1	2	1	2	0	5	1	4	1	2	0	3	0	2	0	4	5			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:122392079A>G	ENST00000288912.4	+	10	2228	c.1374A>G	c.(1372-1374)ttA>ttG	p.L458L	WDR66_ENST00000397454.2_Silent_p.L458L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	458							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTTGAATTTAACACAAATAC	0.413													52	39					0	0	1	0	0	G	122392079	A	G	122392079	2	3	71	1	0	0	0	0	0	0	0	1	17377	359	13	4		4	WDR66	12	122392079	Silent	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	13209966	122392079	11459816	22	1277											
WDHD1	11169	broad.mit.edu	37	chr14	55424348	55424348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttggctgctaaaggtaaCtgcacctttcacaaaaaaga	14	10	7	10	0	1	1	1	0	0	1	2	1	2	1	2	2	3	4	2	2	6	4			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr14:55424348C>T	ENST00000360586.3	-	22	2772	c.2707G>A	c.(2707-2709)Gtt>Att	p.V903I	WDHD1_ENST00000420358.2_Missense_Mutation_p.V780I|WDHD1_ENST00000421192.1_Missense_Mutation_p.V780I|WDHD1_ENST00000359167.4_Missense_Mutation_p.V421I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	903						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTAAAGGTAACTGCACCTTTC	0.303													17	24					0	0	1	0	0	T	55424348	C	T	55424348	3	4	71	1	0	0	0	0	1	0	0	0	17331	565	20	3	702	3	WDHD1	14	55424348	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		55424348	51925192	23	1278											
SEMA6D	80031	broad.mit.edu	37	chr15	48058164	48058164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctctagctgcattatccGcatccccctcagtcgctgtg	5	13	8	15	2	2	0	1	0	1	0	6	0	4	0	3	0	2	5	3	0	2	3			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr15:48058164G>A	ENST00000316364.5	+	14	1965	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	SEMA6D_ENST00000354744.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R509H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	509	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGCATTATCCGCATCCCCCTC	0.443													4	97					0	0	1	0	0	A	48058164	G	A	48058164	3	1	71	1	0	0	0	0	1	0	0	0	14096	1087	38	1	1580	1	SEMA6D	15	48058164	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		48058164	54473228	24	1279											
GNPTG	84572	broad.mit.edu	37	chr16	1402156	1402156	+	Frame_Shift_Del	DEL	T	T	-																															tggtggaggagcccaacgcgTttgggtgagcagcctcgcgg																										TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr16:1402156delT	ENST00000204679.4	+	2	149	c.106delT	c.(106-108)tttfs	p.F36fs		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	36						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCAACGCGTTTGGGTGAGC	0.726													2	4	---	---	---	---						-	1402156	T	-	1402156	7	5	71	1	0	1	0	1	0	0	0	0	6588	1725	60	0	112	0	GNPTG	16	1402156	Frame_Shift_Del	DEL	T	TCGA-WC-A885-01A-11D-A39W-08		1402156	88952597	25	1280											
LAMA1	284217	broad.mit.edu	37	chr18	6985237	6985237	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaggcgtgttcctaccTgtacagaacatctgctagtc	11	10	8	12	1	1	1	0	0	1	1	3	1	2	1	2	1	4	3	2	1	5	4			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr18:6985237T>A	ENST00000389658.3	-	39	5752	c.5659A>T	c.(5659-5661)Agt>Tgt	p.S1887C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1887	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCCTACCTGTACAGAACA	0.493													77	120					0	0	1	0	0	A	6985237	T	A	6985237	5	1	71	1	0	0	0	0	0	0	1	0	8644	1594	55	5	3668	5	LAMA1	18	6985237	Splice_Site	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		6985237	71092011	26	1281											
MRPL4	51073	broad.mit.edu	37	chr19	10365278	10365278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggctggacatactgCaccaggttgctatgtggcag	8	8	13	12	1	0	0	0	0	0	0	0	1	0	1	2	4	3	6	2	4	2	3			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr19:10365278C>T	ENST00000393733.2	+	4	316	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	MRPL4_ENST00000588502.1_Missense_Mutation_p.H96Y|MRPL4_ENST00000253099.6_Missense_Mutation_p.H97Y|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.H97Y|MRPL4_ENST00000307422.5_Missense_Mutation_p.H97Y			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	97					translation	mitochondrion|ribosome	structural constituent of ribosome			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)		GGACATACTGCACCAGGTTGC	0.537													61	81					0	0	1	0	0	T	10365278	C	T	10365278	3	4	71	1	0	0	0	0	1	0	0	0	9852	710	25	2	303	2	MRPL4	19	10365278	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		10365278	48763705	27	1282											
FAM187B	148109	broad.mit.edu	37	chr19	35719115	35719115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcgtttacactcgcccgGctcctcacagcggttgcagt	6	9	11	15	4	1	0	1	0	0	0	3	0	2	0	2	3	3	4	2	3	1	3			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr19:35719115G>A	ENST00000324675.3	-	1	517	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	157						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACTCGCCCGGCTCCTCACAG	0.607													22	22					0	0	1	0	0	A	35719115	G	A	35719115	3	1	71	1	0	0	0	0	1	0	0	0	5544	1203	42	2	648	2	FAM187B	19	35719115	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	25353837	35719115	23409868	28	1283											
ZNF335	63925	broad.mit.edu	37	chr20	44579207	44579207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctacactggtggggccGtaggcttgagtgctgtgcca	5	10	16	10	1	0	1	0	1	0	0	0	1	0	1	2	5	3	4	2	5	2	3			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr20:44579207G>A	ENST00000322927.2	-	21	3317	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R918W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1073					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)				TGGTGGGGCCGTAGGCTTGAG	0.582													4	132					0	0	1	0	0	A	44579207	G	A	44579207	3	1	71	1	0	0	0	0	1	0	0	0	17909	1144	40	1	843	1	ZNF335	20	44579207	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		44579207	18446313	29	1284											
COL18A1	80781	broad.mit.edu	37	chr21	46930115	46930115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtcctcgcgcctgcaGgacctgtacagcatcgtgcg	5	10	11	15	4	0	0	0	0	0	0	4	1	2	1	4	1	4	3	4	1	1	2			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr21:46930115G>A	ENST00000359759.4	+	39	4899	c.4878G>A	c.(4876-4878)caG>caA	p.Q1626Q	COL18A1_ENST00000400337.2_Silent_p.Q1211Q|COL18A1_ENST00000355480.5_Silent_p.Q1391Q|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1626	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCGCCTGCAGGACCTGTACA	0.726													4	2					0	0	1	0	0	A	46930115	G	A	46930115	2	1	71	1	0	0	0	0	0	0	0	1	3698	991	35	3		3	COL18A1	21	46930115	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		46930115	1199780	30	1285											
CADM3	57863	broad.mit.edu	37	chr1	159162404	159162404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcagctggttacctctaCgccccacgagctcagcatca	10	9	7	15	2	4	0	3	0	1	0	4	1	4	0	3	1	5	4	3	1	3	3			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:159162404C>T	ENST00000368125.4	+	3	423	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	89	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.T123M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTTACCTCTACGCCCCACGAG	0.507													10	51					0	0	1	0	0	T	159162404	C	T	159162404	3	4	72	1	0	0	0	0	1	0	0	0	2586	536	19	1	382	1	CADM3	1	159162404	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		159162404	90088217	1	1286											
DDR2	4921	broad.mit.edu	37	chr1	162737092	162737092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggccatcatctttatcctCctggccatcattgtcatcat	7	15	6	13	0	5	0	4	0	1	0	7	0	7	0	4	2	0	0	4	2	1	3			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:162737092C>T	ENST00000367922.3	+	12	1674	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	DDR2_ENST00000367921.3_Silent_p.L412L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCTTTATCCTCCTGGCCATCA	0.483													21	66					0	0	1	0	0	T	162737092	C	T	162737092	2	4	72	1	0	0	0	0	0	0	0	1	4360	842	30	3		3	DDR2	1	162737092	Silent	SNP	C	TCGA-WC-A888-01A-11D-A39W-08	3574688	162737092	86513529	2	1287											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	13	11	7	10	1	5	0	2	0	3	0	6	2	5	2	0	2	1	2	0	2	3	2			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													4	72					0	0	1	0	0	A	162769603	G	A	162769603	3	1	72	1	0	0	0	0	1	0	0	0	7429	1029	36	3	536	3	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	32511	162769603	86481018	3	1288											
SPTBN1	0	broad.mit.edu	37	chr2	54845327	54845327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactaaactgttggaccccGaaggtagggactcaagggat	12	8	12	9	1	2	0	2	0	0	0	2	4	2	3	2	4	1	2	2	4	5	3			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr2:54845327G>A	ENST00000333896.5	+	6	1106	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E254K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	254	Actin-binding.|CH 2.				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)			GTTGGACCCCGAAGGTAGGGA	0.428													4	43					0	0	1	0	0	A	54845327	G	A	54845327	3	1	72	1	0	0	0	0	1	0	0	0	15175	1059	37	1	895	1	SPTBN1	2	54845327	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		54845327	188354046	4	1289											
SPAG16	79582	broad.mit.edu	37	chr2	214794781	214794781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaaggacacagccgcGcagtgtggtcctgcacatgg	8	8	13	12	2	0	1	0	1	0	0	1	2	1	2	3	3	2	2	3	3	1	1			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr2:214794781G>A	ENST00000331683.5	+	12	1407	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	SPAG16_ENST00000374309.3_Missense_Mutation_p.A344T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	438					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACACAGCCGCGCAGTGTGGTC	0.443													8	67					0	0	1	0	0	A	214794781	G	A	214794781	3	1	72	1	0	0	0	0	1	0	0	0	15034	1087	38	1	1374	1	SPAG16	2	214794781	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	159949454	214794781	28404592	5	1290											
GPR78	27201	broad.mit.edu	37	chr4	8588969	8588969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagcatccacccatgAcagctctctggatgtggccg	7	7	11	16	2	1	1	0	1	1	0	3	2	2	2	4	2	2	2	4	2	0	0			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr4:8588969A>G	ENST00000382487.4	+	3	1388	c.971A>G	c.(970-972)gAc>gGc	p.D324G	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	324					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						TCCACCCATGACAGCTCTCTG	0.647													11	43					0	0	1	0	0	G	8588969	A	G	8588969	3	3	72	1	0	0	0	0	1	0	0	0	6750	275	10	4	981	4	GPR78	4	8588969	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		8588969	182565307	6	1291											
ARAP3	64411	broad.mit.edu	37	chr5	141059986	141059986	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgccgtcggaacgtgTctgcatactgctccaggtgc	6	9	13	13	3	1	0	0	0	1	0	3	1	2	1	3	3	6	2	3	3	2	1			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr5:141059986T>G	ENST00000239440.4	-	2	133	c.68A>C	c.(67-69)gAc>gCc	p.D23A	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	23	SAM.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|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|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|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						TCGGAACGTGTCTGCATACTG	0.672													4	37					0	0	1	0	0	G	141059986	T	G	141059986	3	3	72	1	0	0	0	0	1	0	0	0	837	1667	58	5	4694	5	ARAP3	5	141059986	Missense_Mutation	SNP	T	TCGA-WC-A888-01A-11D-A39W-08		141059986	39855274	7	1292											
OR9A4	130075	broad.mit.edu	37	chr7	141618729	141618729	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctccttggcttccctggCtctgaagaactacatcatat	9	14	6	12	0	3	2	1	1	2	1	5	2	4	2	2	2	2	2	2	2	5	5			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr7:141618729C>A	ENST00000548136.1	+	1	113	c.54C>A	c.(52-54)ggC>ggA	p.G18G	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCTTCCCTGGCTCTGAAGAAC	0.373													11	116					1.61879e-10	1.77296e-10	1	1	0	A	141618729	C	A	141618729	2	1	72	1	0	0	0	0	0	0	0	1	11296	784	28	5		5	OR9A4	7	141618729	Silent	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		141618729	17519934	8	1293											
CACNA1B	774	broad.mit.edu	37	chr9	141016204	141016204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgaattggctctgaccCttacctggggcagcgtctgg	5	11	12	13	2	3	1	0	1	3	0	4	2	3	1	2	4	2	2	2	4	2	2			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr9:141016204C>T	ENST00000277549.5	+	47	6924	c.4355C>T	c.(4354-4356)cCt>cTt	p.P1452L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2257L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P2258L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2259L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2196F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2256L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2258					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)	GGCTCTGACCCTTACCTGGGG	0.667													10	29					0	0	1	0	0	T	141016204	C	T	141016204	3	4	72	1	0	0	0	0	1	0	0	0	2557	681	24	3	6955	3	CACNA1B	9	141016204	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		141016204	197227	9	1294											
TTC18	118491	broad.mit.edu	37	chr10	75053041	75053041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctttataatatgctgctgCcatctcaaagttctcattga	10	16	5	10	0	3	1	2	1	3	0	5	1	3	1	1	0	3	3	1	0	4	6			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr10:75053041C>T	ENST00000401621.2	-	17	2080	c.1960G>A	c.(1960-1962)Gca>Aca	p.A654T	TTC18_ENST00000394865.1_Missense_Mutation_p.A654T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.A123T|TTC18_ENST00000310715.3_Missense_Mutation_p.A654T|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	654							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TATGCTGCTGCCATCTCAAAG	0.348													6	27					0	0	1	0	0	T	75053041	C	T	75053041	3	4	72	1	0	0	0	0	1	0	0	0	16747	739	26	2	1453	2	TTC18	10	75053041	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		75053041	60481706	10	1295											
OR5B21	219968	broad.mit.edu	37	chr11	58274720	58274720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgttcctaaggctgtAtatcaagggattcagcatgg	9	15	10	7	0	3	0	2	0	1	0	4	1	4	1	1	3	1	4	1	3	4	7			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr11:58274720A>G	ENST00000360374.2	-	1	858	c.859T>C	c.(859-861)Tac>Cac	p.Y287H		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTAAGGCTGTATATCAAGGGA	0.418													20	124					0	0	1	0	0	G	58274720	A	G	58274720	3	3	72	1	0	0	0	0	1	0	0	0	11198	449	16	4	72	4	OR5B21	11	58274720	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		58274720	76731796	11	1296											
ANGEL1	23357	broad.mit.edu	37	chr14	77273137	77273137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctggtaggcttgtagcaGacagcacagccatcggtttt	10	11	11	9	1	1	1	0	0	1	1	2	1	1	1	1	3	3	6	1	3	3	5			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr14:77273137G>A	ENST00000251089.2	-	5	1114	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTTGTAGCAGACAGCACAGC	0.512													4	157					0	0	1	0	0	A	77273137	G	A	77273137	2	1	72	1	0	0	0	0	0	0	0	1	604	929	33	3		3	ANGEL1	14	77273137	Silent	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		77273137	30076403	12	1297											
SPAG5	10615	broad.mit.edu	37	chr17	26906802	26906802	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccattgatgctactcGggtgaaagcactcttgtcac	11	10	10	10	1	2	2	1	2	1	0	3	3	2	3	1	2	4	2	1	2	3	3			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr17:26906802G>A	ENST00000321765.5	-	17	3183	c.2851C>T	c.(2851-2853)Cga>Tga	p.R951*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	951					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GATGCTACTCGGGTGAAAGCA	0.502													12	98					0	0	1	0	0	A	26906802	G	A	26906802	4	1	72	1	0	0	0	0	0	1	0	0	15037	1124	39	1	762	1	SPAG5	17	26906802	Nonsense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		26906802	54288408	13	1298											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								16	32					0	0	1	0	0	T	3118942	A	T	3118942	3	4	72	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		3118942	56010041	14	1299											
OGFR	11054	broad.mit.edu	37	chr20	61444363	61444363	+	Frame_Shift_Del	DEL	G	G	-																															ggaaggtggatgagggtgctGgggacagtgctgcggtggcc																										TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr20:61444363delG	ENST00000370461.1	+	5	3517	c.1240delG	c.(1240-1242)gggfs	p.G414fs	OGFR_ENST00000290291.6_Frame_Shift_Del_p.G466fs			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	466					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)					TGAGGGTGCTGGGGACAGTGC	0.697													2	4	---	---	---	---						-	61444363	G	-	61444363	7	5	72	1	0	1	0	1	0	0	0	0	10891	1348	47	0	1422	0	OGFR	20	61444363	Frame_Shift_Del	DEL	G	TCGA-WC-A888-01A-11D-A39W-08		61444363	1581157	15	1300											
LIPI	149998	broad.mit.edu	37	chr21	15554114	15554114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgacatccacaaactttGcatccgtgtaatctaatctg	12	12	7	10	1	2	1	0	1	2	0	4	2	4	2	2	1	2	2	2	1	3	3			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr21:15554114G>T	ENST00000344577.2	-	4	696	c.671C>A	c.(670-672)gCa>gAa	p.A224E	LIPI_ENST00000536861.1_Missense_Mutation_p.A203E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	203					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CACAAACTTTGCATCCGTGTA	0.388													6	53					5.9392e-07	5.9392e-07	1	1	0	T	15554114	G	T	15554114	3	4	72	1	0	0	0	0	1	0	0	0	8866	1319	46	5	802	5	LIPI	21	15554114	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		15554114	32575781	16	1301											
OSM	5008	broad.mit.edu	37	chr22	30661053	30661053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctggagctggccaaGgagcacgcggtactctttcg	6	10	13	12	3	2	0	0	0	2	0	3	2	2	2	1	4	4	4	1	4	2	3	rs149963275		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr22:30661053G>T	ENST00000215781.2	-	2	155	c.115C>A	c.(115-117)Ctt>Att	p.L39I	OSM_ENST00000403389.1_Missense_Mutation_p.L18I|OSM_ENST00000403463.1_Intron	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	39					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGCTGGCCAAGGAGCACGCGG	0.577													11	82					4.68919e-08	4.90233e-08	1	1	0	T	30661053	G	T	30661053	3	4	72	1	0	0	0	0	1	0	0	0	11338	1000	35	5	651	5	OSM	22	30661053	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		30661053	20643513	17	1302											
SGSM3	27352	broad.mit.edu	37	chr22	40801734	40801734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggacctgctccccGcctcctacttcagcaccacc	7	8	6	20	2	2	0	2	0	0	0	5	2	4	1	7	1	3	2	7	1	1	2			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr22:40801734G>A	ENST00000248929.9	+	8	889	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	SGSM3_ENST00000454798.2_Missense_Mutation_p.A167T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	234	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCTGCTCCCCGCCTCCTACTT	0.647													4	123					0	0	1	0	0	A	40801734	G	A	40801734	3	1	72	1	0	0	0	0	1	0	0	0	14278	1087	38	1	726	1	SGSM3	22	40801734	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	10140681	40801734	10502832	18	1303											
DR1	1810	broad.mit.edu	37	chr1	93812222	93812222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggcttcctcgtctggcaAcgatgatgatctcactatcc	8	13	8	12	2	2	2	1	2	2	0	6	3	4	2	2	2	1	2	2	2	3	3			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:93812222A>G	ENST00000370272.4	+	1	778	c.20A>G	c.(19-21)aAc>aGc	p.N7S	DR1_ENST00000370267.1_Missense_Mutation_p.N7S	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TCGTCTGGCAACGATGATGAT	0.502													53	53					0	0	1	0	0	G	93812222	A	G	93812222	3	3	73	1	0	0	0	0	1	0	0	0	4778	43	2	4	22	4	DR1	1	93812222	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		93812222	155438399	1	1304											
GPR25	2848	broad.mit.edu	37	chr1	200842836	200842836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctcttctgctactgccGcatctcgcgccgcctgcgac	4	9	8	20	5	3	0	0	0	3	0	4	1	3	0	4	0	4	2	4	0	1	2			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:200842836G>A	ENST00000304244.2	+	1	754	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	224						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TGCTACTGCCGCATCTCGCGC	0.687													3	55					0	0	1	0	0	A	200842836	G	A	200842836	3	1	73	1	0	0	0	0	1	0	0	0	6723	1087	38	1	673	1	GPR25	1	200842836	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	107030614	200842836	48407785	2	1305											
ROBO2	6092	broad.mit.edu	37	chr3	77542506	77542506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaactgtgaggtggaaaaAggatgatgcagacttgccaa	15	7	12	7	0	0	3	0	2	0	1	0	5	0	5	2	3	3	1	2	3	4	1			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:77542506A>G	ENST00000461745.1	+	5	1679	c.779A>G	c.(778-780)aAg>aGg	p.K260R	ROBO2_ENST00000332191.8_Missense_Mutation_p.K260R|ROBO2_ENST00000487694.3_Missense_Mutation_p.K276R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	260	Ig-like C2-type 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)		AGGTGGAAAAAGGATGATGCA	0.408													3	49					0	0	1	0	0	G	77542506	A	G	77542506	3	3	73	1	0	0	0	0	1	0	0	0	13566	72	3	4	799	4	ROBO2	3	77542506	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		77542506	120479924	3	1306											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097340	28097340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctaagtccaaagatattaTtgaaaatgagggcagatcag	16	10	9	6	0	1	4	1	2	0	2	3	4	3	4	2	1	0	1	2	1	6	4			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:28097340T>C	ENST00000340487.4	+	4	808	c.659T>C	c.(658-660)aTt>aCt	p.I220T	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	220					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAGATATTATTGAAAATGAG	0.393													55	38					0	0	1	0	0	C	28097340	T	C	28097340	3	2	73	1	0	0	0	0	1	0	0	0	18270	1493	52	4	669	4	ZSCAN16	6	28097340	Missense_Mutation	SNP	T	TCGA-WC-A88A-01A-11D-A39W-08		28097340	143017727	4	1307											
USP49	25862	broad.mit.edu	37	chr6	41773545	41773545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgttggtcgtagccgcGgaaggcagggatcaggctcc	6	8	16	11	3	1	0	1	0	0	0	4	2	3	2	3	5	1	4	3	5	2	2			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:41773545G>A	ENST00000394253.3	-	3	1506	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	USP49_ENST00000373010.1_Missense_Mutation_p.R393C|USP49_ENST00000373009.3_Missense_Mutation_p.R393C|USP49_ENST00000297229.2_Missense_Mutation_p.R393C|USP49_ENST00000373006.1_Missense_Mutation_p.R393C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	393					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)			TCGTAGCCGCGGAAGGCAGGG	0.612													3	53					0	0	1	0	0	A	41773545	G	A	41773545	3	1	73	1	0	0	0	0	1	0	0	0	17140	1116	39	1	761	1	USP49	6	41773545	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	13676205	41773545	129341522	5	1308											
ADAM22	53616	broad.mit.edu	37	chr7	87792407	87792407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtccccaaatgatgtGcttagaacacaggtgtcttc	9	13	10	9	0	1	2	0	1	1	1	3	2	2	2	2	2	2	1	2	2	3	3			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:87792407G>A	ENST00000398204.4	+	23	2311	c.1988G>A	c.(1987-1989)tGc>tAc	p.C663Y	ADAM22_ENST00000398209.3_Missense_Mutation_p.C663Y|ADAM22_ENST00000265727.7_Missense_Mutation_p.C663Y|ADAM22_ENST00000398201.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.C663Y	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	663	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAAATGATGTGCTTAGAACAC	0.428													5	143					0	0	1	0	0	A	87792407	G	A	87792407	3	1	73	1	0	0	0	0	1	0	0	0	243	1319	46	2	2078	2	ADAM22	7	87792407	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08		87792407	71346256	6	1309											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758431	99758431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccccaggcctgtagaagCctcgaggattggccaggaag	9	5	16	11	1	0	1	0	0	0	1	1	4	0	3	5	5	1	1	5	5	3	2			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:99758431C>T	ENST00000360039.4	-	4	973	c.581G>A	c.(580-582)gGc>gAc	p.G194D	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.G194D|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G132D	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	194					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGTAGAAGCCTCGAGGATT	0.587													29	59					0	0	1	0	0	T	99758431	C	T	99758431	3	4	73	1	0	0	0	0	1	0	0	0	6240	739	26	2	883	2	GAL3ST4	7	99758431	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	11966024	99758431	59380232	7	1310											
SVEP1	79987	broad.mit.edu	37	chr9	113265410	113265410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacccttcatcacaggcaAccaaacatgttgtcttatat	12	13	5	11	0	3	0	2	0	1	0	3	0	3	0	2	1	3	3	2	1	5	5			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr9:113265410A>G	ENST00000401783.2	-	6	1727	c.1391T>C	c.(1390-1392)gTt>gCt	p.V464A	SVEP1_ENST00000374461.1_Missense_Mutation_p.V441A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.V464A|SVEP1_ENST00000374469.1_Missense_Mutation_p.V441A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	464	Sushi 2.				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						ATCACAGGCAACCAAACATGT	0.458													42	45					0	0	1	0	0	G	113265410	A	G	113265410	3	3	73	1	0	0	0	0	1	0	0	0	15476	43	2	4	9496	4	SVEP1	9	113265410	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		113265410	27948021	8	1311											
PSD	5662	broad.mit.edu	37	chr10	104176472	104176472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtggcctcacactggcCttctccacaaagcggaagat	10	9	9	13	1	3	1	2	0	1	1	4	2	3	2	3	3	1	0	3	3	2	2			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr10:104176472C>A	ENST00000020673.5	-	2	850	c.324G>T	c.(322-324)aaG>aaT	p.K108N	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.K108N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	108	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCACACTGGCCTTCTCCACAA	0.662													3	52					2.56e-06	2.88e-06	1	1	0	A	104176472	C	A	104176472	3	1	73	1	0	0	0	0	1	0	0	0	12695	680	24	5	2814	5	PSD	10	104176472	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		104176472	31358275	9	1312											
PRDM11	56981	broad.mit.edu	37	chr11	45204514	45204514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcatcccagaccgggCggcgctcaccatcccacagg	7	4	13	17	4	1	1	1	0	0	1	3	1	3	1	4	4	0	2	4	4	0	0			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr11:45204514C>G	ENST00000263765.4	+	5	677	c.428C>G	c.(427-429)gCg>gGg	p.A143G	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.A109G|PRDM11_ENST00000530656.1_Missense_Mutation_p.A143G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	143										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGACCGGGCGGCGCTCACC	0.602													27	32					0	0	1	0	0	G	45204514	C	G	45204514	3	3	73	1	0	0	0	0	1	0	0	0	12504	768	27	5	442	5	PRDM11	11	45204514	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		45204514	89802002	10	1313											
SCARB1	949	broad.mit.edu	37	chr12	125298848	125298848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagccccacatgatctcaCccacagtgcggttcatgaag	10	9	9	13	1	2	2	2	2	1	0	3	2	2	2	3	1	2	2	3	1	2	2			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:125298848C>T	ENST00000339570.5	-	4	726	c.530G>A	c.(529-531)gGt>gAt	p.G177D	SCARB1_ENST00000546215.1_Missense_Mutation_p.G177D|SCARB1_ENST00000415380.2_Missense_Mutation_p.G177D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77D|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140D|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136D|SCARB1_ENST00000544327.1_Missense_Mutation_p.G123D|SCARB1_ENST00000535005.1_5'UTR	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	177					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CATGATCTCACCCACAGTGCG	0.522													5	64					0	0	1	0	0	T	125298848	C	T	125298848	3	4	73	1	0	0	0	0	1	0	0	0	13934	507	18	3	1159	3	SCARB1	12	125298848	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		125298848	8553047	11	1314											
NOC4L	79050	broad.mit.edu	37	chr12	132633397	132633397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgccgcagctggcgcaGcccacgctcatgatcgactt	7	8	10	16	4	1	1	1	1	0	0	3	2	2	1	3	1	3	4	3	1	0	1			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:132633397G>T	ENST00000330579.1	+	9	899	c.858G>T	c.(856-858)caG>caT	p.Q286H	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	286					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AGCTGGCGCAGCCCACGCTCA	0.692													3	7					2.56e-06	2.88e-06	1	1	0	T	132633397	G	T	132633397	3	4	73	1	0	0	0	0	1	0	0	0	10562	962	34	5	892	5	NOC4L	12	132633397	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	7334549	132633397	1218498	12	1315											
PLCB2	5330	broad.mit.edu	37	chr15	40591139	40591139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggtcaggtgctccttcGtcatgtagggtttggcctta	5	16	12	8	1	2	0	2	0	0	0	4	0	3	0	2	4	1	3	2	4	2	5			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:40591139G>A	ENST00000260402.3	-	9	959	c.710C>T	c.(709-711)aCg>aTg	p.T237M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T237M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T237M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	237					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)		GTGCTCCTTCGTCATGTAGGG	0.577													38	45					0	0	1	0	0	A	40591139	G	A	40591139	3	1	73	1	0	0	0	0	1	0	0	0	12076	1145	40	1	2943	1	PLCB2	15	40591139	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08		40591139	61940253	13	1316											
BNC1	646	broad.mit.edu	37	chr15	83936923	83936923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcattggtcacactgaCggtggtttattttcccgggt	5	15	12	9	2	1	1	1	1	0	0	2	1	2	1	1	4	1	3	1	4	1	6			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83936923C>T	ENST00000345382.2	-	2	246	c.161G>A	c.(160-162)cGt>cAt	p.R54H	BNC1_ENST00000569704.1_Missense_Mutation_p.R47H|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	54					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						GTCACACTGACGGTGGTTTAT	0.438													32	31					0	0	1	0	0	T	83936923	C	T	83936923	3	4	73	1	0	0	0	0	1	0	0	0	1473	536	19	1	2839	1	BNC1	15	83936923	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	43345784	83936923	18594469	14	1317											
NUFIP2	57532	broad.mit.edu	37	chr17	27620994	27620994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtgcggctgCtgctgctgctgctgagggtg	1	12	21	7	1	0	1	0	1	0	0	0	1	0	1	0	6	6	6	0	6	0	0			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr17:27620994C>G	ENST00000225388.4	-	1	142	c.84G>C	c.(82-84)caG>caC	p.Q28H	NUFIP2_ENST00000579665.1_Missense_Mutation_p.Q28H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	28	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ggtgcggctgctgctgctgct	0.587													3	48					0	0	1	0	0	G	27620994	C	G	27620994	3	3	73	1	0	0	0	0	1	0	0	0	10797	796	28	5	2019	5	NUFIP2	17	27620994	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		27620994	53574216	15	1318											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								26	34					0	0	1	0	0	T	3118942	A	T	3118942	3	4	73	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		3118942	56010041	16	1319											
MEGF8	1954	broad.mit.edu	37	chr19	42839498	42839498	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcctatacaacttctcCgccaacacctgggagtcttg	8	11	7	15	2	2	0	0	0	2	0	5	1	3	1	4	1	3	0	4	1	4	4			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:42839498C>A	ENST00000334370.4	+	5	1424	c.789C>A	c.(787-789)tcC>tcA	p.S263S	MEGF8_ENST00000251268.6_Silent_p.S263S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	263						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)				ACAACTTCTCCGCCAACACCT	0.632													3	56					0.00909568	0.00909568	1	1	0	A	42839498	C	A	42839498	2	1	73	1	0	0	0	0	0	0	0	1	9513	639	23	5		5	MEGF8	19	42839498	Silent	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	39720556	42839498	16289485	17	1320											
ZNF234	10780	broad.mit.edu	37	chr19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-																															tgtattccttttagaaaaggAaaaaaagcttgatataatga																										TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gaafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB.				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)				TTAGAAAAGGAAAAAAAGCTT	0.368													2	4	---	---	---	---						-	44654608	A	-	44654608	7	5	73	1	0	1	0	1	0	0	0	0	17845	246	9	0	195	0	ZNF234	19	44654608	Frame_Shift_Del	DEL	A	TCGA-WC-A88A-01A-11D-A39W-08	1815110	44654608	14474375	18	1321											
PPARA	5465	broad.mit.edu	37	chr22	46615723	46615723	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagcgattcgttttggaCgaatgccaagatctgagaaa	12	10	10	9	3	1	2	0	1	1	2	2	6	1	3	2	1	2	1	2	1	4	4			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr22:46615723C>T	ENST00000396000.2	+	6	788	c.523C>T	c.(523-525)Cga>Tga	p.R175*	PPARA_ENST00000262735.5_Nonsense_Mutation_p.R175*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Nonsense_Mutation_p.R175*			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	175					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCGTTTTGGACGAATGCCAAG	0.498													10	46					0	0	1	0	0	T	46615723	C	T	46615723	4	4	73	1	0	0	0	0	0	1	0	0	12342	528	19	1	537	1	PPARA	22	46615723	Nonsense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		46615723	4688843	19	1322											
LUZP1	7798	broad.mit.edu	37	chr1	23418835	23418835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacacctcaaggcttcatgCggactgctgtcttccatcac	8	10	8	15	2	4	0	3	0	1	0	5	2	5	1	2	2	2	2	2	2	1	2			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus		p.P640P(2)		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)		AGGCTTCATGCGGACTGCTGT	0.468													4	109					0	0	1	0	0	T	23418835	C	T	23418835	2	4	74	1	0	0	0	0	0	0	0	1	9131	755	27	1		1	LUZP1	1	23418835	Silent	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		23418835	225831786	1	1323											
KIDINS220	57498	broad.mit.edu	37	chr2	8953441	8953441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtacggcctttgtaacatgCccacataagagctgtccatc	11	10	8	12	1	0	1	0	0	0	1	2	1	1	1	3	1	4	3	3	1	3	4			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:8953441C>T	ENST00000256707.3	-	5	512	c.331G>A	c.(331-333)Gca>Aca	p.A111T	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A69T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A111T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A111T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	111					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTGTAACATGCCCACATAAGA	0.373													4	194					0	0	1	0	0	T	8953441	C	T	8953441	3	4	74	1	0	0	0	0	1	0	0	0	8313	739	26	2	5088	2	KIDINS220	2	8953441	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		8953441	234245932	2	1324											
SF3B1	23451	broad.mit.edu	37	chr2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctatctgttgtacaatcTtaataccagtgtgtctcgct	9	16	7	9	1	3	0	0	0	3	0	4	0	3	0	1	0	3	4	1	0	6	6			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K666R(7)|p.K666T(6)|p.K666M(6)		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)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome								28	30					0	0	1	0	0	G	198267360	T	G	198267360	3	3	74	1	0	0	0	0	1	0	0	0	14203	1609	56	5	1965	5	SF3B1	2	198267360	Missense_Mutation	SNP	T	TCGA-WC-AA9A-01A-11D-A39W-08	189313919	198267360	44932013	3	1325											
BAP1	8314	broad.mit.edu	37	chr3	52441217	52441217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggggtagaccttcagccCatccagctcaaagagccggc	11	6	11	13	1	2	2	2	0	0	2	3	2	3	2	4	3	3	2	4	3	3	2			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr3:52441217C>G	ENST00000460680.1	-	7	1024	c.553G>C	c.(553-555)Ggg>Cgg	p.G185R	BAP1_ENST00000296288.5_Missense_Mutation_p.G185R	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	185					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		ACCTTCAGCCCATCCAGCTCA	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							20	0					0	0	1	0	0	G	52441217	C	G	52441217	3	3	74	1	0	0	0	0	1	0	0	0	1309	594	21	5	1680	5	BAP1	3	52441217	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		52441217	145581213	4	1326											
FBXL17	64839	broad.mit.edu	37	chr5	107216757	107216757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttatcacatctcatcagcCccaaatatctcagagacttg	12	12	4	13	0	4	1	4	0	2	1	6	2	4	1	2	0	1	0	2	0	3	4			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:107216757C>A	ENST00000542267.1	-	8	2352	c.1946G>T	c.(1945-1947)gGg>gTg	p.G649V	FBXL17_ENST00000359660.5_Missense_Mutation_p.G251V|FBXL17_ENST00000496714.1_Missense_Mutation_p.G251V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	649										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TCTCATCAGCCCCAAATATCT	0.413													44	76					4.10826e-27	4.31367e-27	1	1	0	A	107216757	C	A	107216757	3	1	74	1	0	0	0	0	1	0	0	0	5746	623	22	5	167	5	FBXL17	5	107216757	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		107216757	73698503	5	1327											
APC	324	broad.mit.edu	37	chr5	112179702	112179702	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcagctcggccatctcAgatcccaactccagtgaata	11	9	6	15	1	2	2	2	1	1	1	6	2	4	2	3	1	2	1	3	1	3	2			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:112179702A>C	ENST00000457016.1	+	16	8791	c.8411A>C	c.(8410-8412)cAg>cCg	p.Q2804P	APC_ENST00000508376.2_Missense_Mutation_p.Q2804P|APC_ENST00000257430.4_Missense_Mutation_p.Q2804P|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2804	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	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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.?(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)		CGGCCATCTCAGATCCCAACT	0.488		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)			45	37					0	0	1	0	0	C	112179702	A	C	112179702	3	2	74	1	0	0	0	0	1	0	0	0	759	188	7	5	8469	5	APC	5	112179702	Missense_Mutation	SNP	A	TCGA-WC-AA9A-01A-11D-A39W-08	4962945	112179702	68735558	6	1328											
EHMT2	10919	broad.mit.edu	37	chr6	31852696	31852696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctcactcacgttgtcaGtgagggtgacgtcggcgccc	7	8	13	13	5	3	2	3	2	0	0	4	2	3	2	1	2	1	2	1	2	1	1			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr6:31852696G>A	ENST00000395728.3	-	18	2611	c.2612C>T	c.(2611-2613)aCt>aTt	p.T871I	EHMT2_ENST00000375528.4_Missense_Mutation_p.T837I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T780I|EHMT2_ENST00000375537.4_Missense_Mutation_p.T814I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	814					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						CACGTTGTCAGTGAGGGTGAC	0.632													3	40					0	0	1	0	0	A	31852696	G	A	31852696	3	1	74	1	0	0	0	0	1	0	0	0	5010	1029	36	3	1231	3	EHMT2	6	31852696	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		31852696	139262371	7	1329											
DDX50	79009	broad.mit.edu	37	chr10	70661179	70661179	+	Frame_Shift_Del	DEL	G	G	-																															tggggggacattatggagctGgaagcacccttggaggagtc																										TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr10:70661179delG	ENST00000373585.3	+	1	146	c.39delG	c.(37-39)ctgfs	p.L13fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	13						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTATGGAGCTGGAAGCACCCT	0.657													2	4	---	---	---	---						-	70661179	G	-	70661179	7	5	74	1	0	1	0	1	0	0	0	0	4391	1335	47	0	41	0	DDX50	10	70661179	Frame_Shift_Del	DEL	G	TCGA-WC-AA9A-01A-11D-A39W-08		70661179	64873568	8	1330											
FLRT1	23769	broad.mit.edu	37	chr11	63884416	63884416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcaacagcctgcggcGcctggtgctggacggtaacc	6	6	15	14	3	1	0	1	0	0	0	1	1	1	1	4	5	5	2	4	5	2	1			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr11:63884416G>A	ENST00000246841.3	+	2	1720	c.677G>A	c.(676-678)cGc>cAc	p.R226H	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	198					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						AGCCTGCGGCGCCTGGTGCTG	0.657													6	15					0	0	1	0	0	A	63884416	G	A	63884416	3	1	74	1	0	0	0	0	1	0	0	0	5971	1087	38	1	679	1	FLRT1	11	63884416	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		63884416	71122100	9	1331											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													6	26					0	0	1	0	0	G	77937662	T	G	77937662	2	3	74	1	0	0	0	0	0	0	0	1	6184	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-WC-AA9A-01A-11D-A39W-08	14053246	77937662	57068854	10	1332											
CNPY2	10330	broad.mit.edu	37	chr12	56705072	56705072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggattctccattccGgcccactacacgtacgtagt	8	12	7	14	3	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	3	6			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:56705072G>A	ENST00000273308.4	-	4	871	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R111W|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	111	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TCTCCATTCCGGCCCACTACA	0.522													96	111					0	0	1	0	0	A	56705072	G	A	56705072	3	1	74	1	0	0	0	0	1	0	0	0	3651	1115	39	1	229	1	CNPY2	12	56705072	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		56705072	77146823	11	1333											
TPCN1	53373	broad.mit.edu	37	chr12	113723746	113723746	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggccctgtggagtaCttgtcttccggatggaactt	5	12	14	10	1	1	0	0	0	1	0	2	3	2	3	3	5	2	1	3	5	2	4			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:113723746C>G	ENST00000550785.1	+	19	1891	c.1722C>G	c.(1720-1722)taC>taG	p.Y574*	TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Y574*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Y434*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.Y502*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	502						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTGTGGAGTACTTGTCTTCCG	0.587													39	21					0	0	1	0	0	G	113723746	C	G	113723746	4	3	74	1	0	0	0	0	0	1	0	0	16456	576	20	5	1792	5	TPCN1	12	113723746	Nonsense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08	57018674	113723746	20128149	12	1334											
PIK3R5	23533	broad.mit.edu	37	chr17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagcagcaccggtctggcgGcaaagcggcagtagtagagt	10	5	16	10	3	1	1	0	0	1	1	1	1	1	1	1	4	3	7	1	4	3	2			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr17:8789831G>A	ENST00000447110.1	-	13	2121	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	666	Interaction with G beta gamma proteins (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						CGGTCTGGCGGCAAAGCGGCA	0.662													3	47					0	0	1	0	0	A	8789831	G	A	8789831	3	1	74	1	0	0	0	0	1	0	0	0	11970	1203	42	2	673	2	PIK3R5	17	8789831	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		8789831	72405379	13	1335											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								15	30					0	0	1	0	0	T	3118942	A	T	3118942	3	4	74	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-AA9A-01A-11D-A39W-08		3118942	56010041	14	1336											
MAGEC3	139081	broad.mit.edu	37	chrX	140984758	140984758	+	Frame_Shift_Del	DEL	A	A	-																															tcctcccaagatctctccccAgggtcctccgcagagtcctc																										TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chrX:140984758delA	ENST00000298296.1	+	7	1214	c.1214delA	c.(1213-1215)cagfs	p.Q405fs	MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.Q27fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.Q107fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	405	Pro-rich.									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)					atctctccccagggtcctccg	0.582													2	4	---	---	---	---						-	140984758	A	-	140984758	7	5	74	1	0	1	0	1	0	0	0	0	9232	188	7	0	1469	0	MAGEC3	23	140984758	Frame_Shift_Del	DEL	A	TCGA-WC-AA9A-01A-11D-A39W-08		140984758	14285802	15	1337											
SELE	6401	broad.mit.edu	37	chr1	169698468	169698468	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaggggaatggctgcAcctcacagagccattctgag	10	7	12	12	0	2	2	1	1	1	1	3	3	3	3	3	3	3	3	3	3	1	1			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:169698468A>T	ENST00000333360.7	-	7	1088	c.949T>A	c.(949-951)Tgc>Agc	p.C317S	SELE_ENST00000367779.4_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|SELE_ENST00000367775.1_Missense_Mutation_p.C255S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	317	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GAATGGCTGCACCTCACAGAG	0.522													9	15					0	0	1	0	0	T	169698468	A	T	169698468	3	4	75	1	0	0	0	0	1	0	0	0	14067	159	6	5	911	5	SELE	1	169698468	Missense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08		169698468	79552153	1	1338											
DYSF	8291	broad.mit.edu	37	chr2	71797031	71797031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggcttcccggaggccaGtggatctacatgagtgacaa	10	7	12	12	2	1	2	0	2	1	0	2	4	2	4	3	4	1	1	3	4	2	2			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:71797031G>A	ENST00000258104.3	+	27	3169	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000409582.3_Silent_p.Q981Q|DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000410041.1_Silent_p.Q982Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000429174.2_Silent_p.Q964Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	964						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						CCGGAGGCCAGTGGATCTACA	0.587													5	65					0	0	1	0	0	A	71797031	G	A	71797031	2	1	75	1	0	0	0	0	0	0	0	1	4885	1020	36	3		3	DYSF	2	71797031	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		71797031	171402342	2	1339											
SF3B1	23451	broad.mit.edu	37	chr2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	10	14	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	5	5			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		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)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome								22	26					0	0	1	0	0	T	198267483	C	T	198267483	3	4	75	1	0	0	0	0	1	0	0	0	14203	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	126470452	198267483	44931890	3	1340											
ABCA12	26154	broad.mit.edu	37	chr2	215865502	215865502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagttccttccagtttGcaattcaatgattgctcttt	7	17	8	9	0	2	1	1	1	1	0	4	2	4	2	2	1	2	4	2	1	2	6			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:215865502G>C	ENST00000272895.7	-	22	3325	c.3106C>G	c.(3106-3108)Caa>Gaa	p.Q1036E	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1036					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)		CTTCCAGTTTGCAATTCAATG	0.428													53	66					0	0	1	0	0	C	215865502	G	C	215865502	3	2	75	1	0	0	0	0	1	0	0	0	30	1328	46	5	4809	5	ABCA12	2	215865502	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08	17598019	215865502	27333871	4	1341											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239237343	239237343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagctctctagtgacgatgCggtgcggagggttttagctg	7	11	15	8	3	1	1	0	1	1	0	2	3	1	2	0	3	4	3	0	3	3	3			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:239237343C>T	ENST00000373327.4	+	4	593	c.371C>T	c.(370-372)gCg>gTg	p.A124V	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	124	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGTGACGATGCGGTGCGGAGG	0.468													3	44					0	0	1	0	0	T	239237343	C	T	239237343	3	4	75	1	0	0	0	0	1	0	0	0	16501	768	27	1	385	1	TRAF3IP1	2	239237343	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	23371841	239237343	3962030	5	1342											
CACNA1D	776	broad.mit.edu	37	chr3	53796064	53796064	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacgtttgactccctcAtcgtaatcggcagcattata	11	11	8	11	3	1	1	1	1	0	0	4	2	2	2	1	2	2	4	1	2	4	4			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr3:53796064A>T	ENST00000288139.4	+	31	4004	c.3886A>T	c.(3886-3888)Atc>Ttc	p.I1296F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1276F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	TGACTCCCTCATCGTAATCGG	0.552													37	90					0	0	1	0	0	T	53796064	A	T	53796064	3	4	75	1	0	0	0	0	1	0	0	0	2559	217	8	5	4116	5	CACNA1D	3	53796064	Missense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08		53796064	144226366	6	1343											
LPHN3	23284	broad.mit.edu	37	chr4	62599230	62599230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaataactatcacgtcGtgaaatattctttggatttt	12	17	7	5	2	2	1	1	1	1	0	3	3	2	3	0	2	1	0	0	2	6	8			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr4:62599230G>A	ENST00000512091.2	+	7	1900	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LPHN3_ENST00000514591.1_Missense_Mutation_p.V385M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M			Q9HAR2	LPHN3_HUMAN	latrophilin 3		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						CTATCACGTCGTGAAATATTC	0.393													9	22					0	0	1	0	0	A	62599230	G	A	62599230	3	1	75	1	0	0	0	0	1	0	0	0	8962	1145	40	1	1171	1	LPHN3	4	62599230	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		62599230	128555046	7	1344											
OCLN	100506658	broad.mit.edu	37	chr5	68809848	68809848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctttgctgtgaaaactcGaagaaagatggacaggtatg	13	12	11	5	1	1	3	0	1	1	2	2	5	1	4	0	2	2	2	0	2	5	3			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:68809848G>A	ENST00000355237.2	+	4	1239	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q|OCLN_ENST00000542132.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	268	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)		GTGAAAACTCGAAGAAAGATG	0.398													20	32					0	0	1	0	0	A	68809848	G	A	68809848	3	1	75	1	0	0	0	0	1	0	0	0	10868	1058	37	1	813	1	OCLN	5	68809848	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		68809848	112105412	8	1345											
MGAT4B	11282	broad.mit.edu	37	chr5	179226505	179226505	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcccgccagctcttgctcaCcgcatccttctcggggttgc	3	11	10	17	3	3	0	1	0	2	0	6	0	5	0	4	2	3	4	4	2	0	3	rs112845536		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:179226505C>T	ENST00000337755.5	-	8	1973		c.e8+1		MGAT4B_ENST00000292591.7_Splice_Site	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTGCTCACCGCATCCTTC	0.577													15	22					0	0	1	0	0	T	179226505	C	T	179226505	5	4	75	1	0	0	0	0	0	0	1	0	9596	521	18	3	632	3	MGAT4B	5	179226505	Splice_Site	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	110416657	179226505	1688755	9	1346											
LRFN2	57497	broad.mit.edu	37	chr6	40400440	40400440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaagcctcatctgcgatgCcgcccagctggttgttgttc	7	11	10	13	2	2	0	1	0	1	0	3	1	2	0	3	1	4	4	3	1	2	3			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr6:40400440C>T	ENST00000338305.6	-	2	955	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	138						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTGCGATGCCGCCCAGCTG	0.597													3	64					0	0	1	0	0	T	40400440	C	T	40400440	3	4	75	1	0	0	0	0	1	0	0	0	8983	739	26	2	1964	2	LRFN2	6	40400440	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		40400440	130714627	10	1347											
CSMD3	114788	broad.mit.edu	37	chr8	113585861	113585861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcacctagtagatgaGtcgttttatcttttccatca	12	15	6	8	1	2	2	1	1	1	1	4	2	3	2	2	0	1	3	2	0	5	7	rs143652338		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr8:113585861G>C	ENST00000297405.5	-	24	4155	c.3911C>G	c.(3910-3912)aCt>aGt	p.T1304S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1304	CUB 7.					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						TAGTAGATGAGTCGTTTTATC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	123					0	0	1	0	0	C	113585861	G	C	113585861	3	2	75	1	0	0	0	0	1	0	0	0	3971	1029	36	5	7404	5	CSMD3	8	113585861	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		113585861	32778161	11	1348											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								38	48					0	0	1	0	0	A	80409488	T	A	80409488	3	1	75	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		80409488	60803943	12	1349											
PANK1	53354	broad.mit.edu	37	chr10	91404916	91404916	+	Frame_Shift_Del	DEL	C	C	-																															gaatcggggatccccgcgcaCccccagccggggctcccgcc																										TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr10:91404916delC	ENST00000307534.4	-	1	299	c.144delG	c.(142-144)gggfs	p.G48fs		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	48					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TCCCCGCGCACCCCCAGCCGG	0.786													5	2	---	---	---	---						-	91404916	C	-	91404916	7	5	75	1	0	1	0	1	0	0	0	0	11463	494	18	0	1712	0	PANK1	10	91404916	Frame_Shift_Del	DEL	C	TCGA-WC-AA9E-01A-11D-A39W-08		91404916	44129831	13	1350											
ARHGEF17	9828	broad.mit.edu	37	chr11	73073583	73073583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccgcgacgctcgcGgagccggggccgcagccctg	6	2	18	15	7	0	0	0	0	0	0	1	4	0	2	4	4	3	2	4	4	1	0			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:73073583G>A	ENST00000263674.3	+	14	5150	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1600					actin cytoskeleton organization|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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGACGCTCGCGGAGCCGGGGC	0.731													8	18					0	0	1	0	0	A	73073583	G	A	73073583	2	1	75	1	0	0	0	0	0	0	0	1	897	1103	39	1		1	ARHGEF17	11	73073583	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		73073583	61932933	14	1351											
CEP164	22897	broad.mit.edu	37	chr11	117222647	117222647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggggccattaagaagaaGaaaaaaaaaaaggaaaagaa	24	4	10	3	0	1	4	0	0	1	4	1	5	1	5	1	3	0	0	1	3	11	1	rs77712809		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:117222647G>A	ENST00000278935.3	+	5	483	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	112	Interaction with ATRIP.|Lys-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|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)		TTaagaagaagaaaaaaaaaa	0.507													3	21					0	0	1	0	0	A	117222647	G	A	117222647	2	1	75	1	0	0	0	0	0	0	0	1	3271	933	33	3		3	CEP164	11	117222647	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08	44149064	117222647	17783869	15	1352											
MCRS1	10445	broad.mit.edu	37	chr12	49959401	49959401	+	Frame_Shift_Del	DEL	C	C	-																															tgcccgggtagaagattttgCcaggctgctctccaccagct																										TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:49959401delC	ENST00000550165.1	-	5	465	c.199delG	c.(199-201)gcafs	p.A67fs	MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	67	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GAAGATTTTGCCAGGCTGCTC	0.562													67	113	---	---	---	---						-	49959401	C	-	49959401	7	5	75	1	0	1	0	1	0	0	0	0	9449	739	26	0	1237	0	MCRS1	12	49959401	Frame_Shift_Del	DEL	C	TCGA-WC-AA9E-01A-11D-A39W-08		49959401	83892494	16	1353											
OR6C75	390323	broad.mit.edu	37	chr12	55759765	55759765	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccttcatatacacactgAgaaataagcaagtgaagcaa	18	8	6	9	0	1	2	1	2	0	1	2	3	2	2	1	0	3	2	1	0	7	4			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:55759765A>T	ENST00000343399.3	+	1	871	c.871A>T	c.(871-873)Aga>Tga	p.R291*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	291					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						ATACACACTGAGAAATAAGCA	0.393													3	65					0	0	1	0	0	T	55759765	A	T	55759765	4	4	75	1	0	0	0	0	0	1	0	0	11246	296	11	5	873	5	OR6C75	12	55759765	Nonsense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08	5800364	55759765	78092130	17	1354											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678549	37678549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtcctgaaaagaatgCggaatagctgcctcagatac	13	8	11	9	1	2	3	2	1	0	2	3	4	3	4	2	2	4	1	2	2	6	2			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:37678549C>T	ENST00000379800.3	-	1	1254	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	282	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAAAAGAATGCGGAATAGCTG	0.488													6	89					0	0	1	0	0	T	37678549	C	T	37678549	3	4	75	1	0	0	0	0	1	0	0	0	3976	768	27	1	172	1	CSNK1A1L	13	37678549	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		37678549	77491329	18	1355											
MBNL2	10150	broad.mit.edu	37	chr13	97986550	97986550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgttgttcgagagagaaCtgcaagtatcttcaccctcc	9	10	10	12	2	2	2	1	0	1	2	4	4	3	2	3	1	2	4	3	1	3	4			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:97986550C>G	ENST00000345429.6	+	3	976	c.195C>G	c.(193-195)aaC>aaG	p.N65K	MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K|MBNL2_ENST00000376673.3_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	65					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGAGAGAGAACTGCAAGTATC	0.398													3	48					0	0	1	0	0	G	97986550	C	G	97986550	3	3	75	1	0	0	0	0	1	0	0	0	9404	564	20	5	201	5	MBNL2	13	97986550	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	60308001	97986550	17183328	19	1356											
SAP30BP	29115	broad.mit.edu	37	chr17	73695881	73695881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctccttttctgaaagagTtcggaacatgtcgcctgatg	9	12	10	10	2	1	3	0	2	1	1	4	4	2	4	3	1	2	1	3	1	2	3			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr17:73695881T>C	ENST00000584667.1	+	5	583	c.326T>C	c.(325-327)gTt>gCt	p.V109A	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	109					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGAAAGAGTTCGGAACATG	0.453													9	140					0	0	1	0	0	C	73695881	T	C	73695881	3	2	75	1	0	0	0	0	1	0	0	0	13887	1725	60	4	344	4	SAP30BP	17	73695881	Missense_Mutation	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		73695881	7499329	20	1357											
WDR7	23335	broad.mit.edu	37	chr18	54603067	54603067	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgactcggcccgctcTgcgaggcatgccctctcgct	4	8	12	17	4	2	1	0	1	2	0	4	2	2	1	2	2	3	5	2	2	0	0			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr18:54603067T>A	ENST00000254442.3	+	23	3973	c.3762T>A	c.(3760-3762)tcT>tcA	p.S1254S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1221S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1254										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)		CGGCCCGCTCTGCGAGGCATG	0.527													45	40					0	0	1	0	0	A	54603067	T	A	54603067	2	1	75	1	0	0	0	0	0	0	0	1	17380	1567	55	5		5	WDR7	18	54603067	Silent	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		54603067	23474181	21	1358											
NEDD4L	0	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-																															tctcagcaccaagaggaactTcctcctcctcctctgcctcc																										TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr18:55992284_55992286delTCC	ENST00000456986.1	+	9	807_809	c.207_209delTCC	c.(205-210)cttcct>ctt	p.P73del	NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	C2.				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						AAGAGGAACTTCCTCCTCCTCCT	0.498													7	167	---	---	---	---						-	55992286	TCC	-	55992284	7	5	75	1	0	1	0	1	0	0	0	0	10358	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-WC-AA9E-01A-11D-A39W-08	1389217	55992284	22084964	22	1359											
GNA11	2767	broad.mit.edu	37	chr19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgaccgacgttgaccGcatcgccaccttgggctacc	7	8	9	17	4	0	2	0	2	0	0	1	3	0	2	6	1	2	3	6	1	2	4			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma								3	57					0	0	1	0	0	A	3114962	G	A	3114962	3	1	75	1	0	0	0	0	1	0	0	0	6541	1087	38	1	511	1	GNA11	19	3114962	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		3114962	56014021	23	1360											
ZNF304	57343	broad.mit.edu	37	chr19	57868113	57868113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagccttcattcacttgcaCcacctaaaaatgcaccagaa	16	8	4	13	0	2	1	2	0	0	1	2	1	2	1	4	0	3	2	4	0	5	4			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:57868113C>T	ENST00000391705.3	+	4	1160	c.876C>T	c.(874-876)caC>caT	p.H292H	ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000282286.5_Silent_p.H292H	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		TTCACTTGCACCACCTAAAAA	0.418													15	39					0	0	1	0	0	T	57868113	C	T	57868113	2	4	75	1	0	0	0	0	0	0	0	1	17890	506	18	3		3	ZNF304	19	57868113	Silent	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	54753151	57868113	1260870	24	1361											
RTDR1	27156	broad.mit.edu	37	chr22	23406237	23406237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggatgaactcctggaactCctcctcctccacctccacct	8	9	5	19	0	0	1	0	1	0	0	6	3	6	3	8	2	2	0	8	2	2	0			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr22:23406237C>T	ENST00000216036.4	-	5	692	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	166	Poly-Glu.						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)		TCCTGGAACTCCTCCTCCTCC	0.577													16	24					0	0	1	0	0	T	23406237	C	T	23406237	3	4	75	1	0	0	0	0	1	0	0	0	13771	864	30	3	562	3	RTDR1	22	23406237	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		23406237	27898329	25	1362											
GAB3	139716	broad.mit.edu	37	chrX	153908520	153908520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaactggctgttcggtgCtcctcctaggaaccaacatc	9	9	11	12	1	0	0	0	0	0	0	4	2	2	2	3	4	4	3	3	4	4	2			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chrX:153908520C>T	ENST00000369575.3	-	9	1564	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	GAB3_ENST00000424127.2_Silent_p.E512E|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	511										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	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)					CTGTTCGGTGCTCCTCCTAGG	0.517													60	4					0	0	1	0	0	T	153908520	C	T	153908520	2	4	75	1	0	0	0	0	0	0	0	1	6185	796	28	2		2	GAB3	23	153908520	Silent	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		153908520	1362040	26	1363											
FSHR	0	broad.mit.edu	37	chr2	49381416	49381416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactcacagttcaatggcAttcctcgggaggtcagaagg	11	9	12	9	1	3	1	3	0	0	1	5	3	4	2	1	4	1	2	1	4	3	3			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr2:49381416A>G	ENST00000406846.2	-	1	260	c.141T>C	c.(139-141)aaT>aaC	p.N47N	FSHR_ENST00000346173.3_Silent_p.N47N|FSHR_ENST00000304421.4_Silent_p.N47N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	47					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTTCAATGGCATTCCTCGGGA	0.463									Gonadal Dysgenesis, 46 XX				10	30					0	0	1	0	0	G	49381416	A	G	49381416	2	3	76	1	0	0	0	0	0	0	0	1	6108	214	8	4		4	FSHR	2	49381416	Silent	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		49381416	193817957	1	1364											
EIF1B	10289	broad.mit.edu	37	chr3	40353009	40353010	+	Frame_Shift_Ins	INS	-	-	T																															acatcctgaatacggagaggINSttattcagcttcaaggtgac																										TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:40353009_40353010insT	ENST00000232905.3	+	3	502_503	c.244_245insT	c.(244-246)gttfs	p.V82fs		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	82					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATACGGAGAGGTTATTCAGCTT	0.361													10	44	---	---	---	---						T	40353010	-	T	40353009	7	5	76	1	0	1	1	0	0	0	0	0	5020	1261	44	0	254	0	EIF1B	3	40353009	Frame_Shift_Ins	INS	-	TCGA-YZ-A980-01A-11D-A39W-08		40353009	157669421	2	1365											
BAP1	8314	broad.mit.edu	37	chr3	52439229	52439229	+	Frame_Shift_Del	DEL	G	G	-																															cattgaggctgctgcctggaGgcttcaccactagcttgggt																										TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:52439229delG	ENST00000460680.1	-	11	1484	c.1013delC	c.(1012-1014)cctfs	p.P339fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	339					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V335fs*10(1)		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)		GCTGCCTGGAGGCTTCACCAC	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							25	63	---	---	---	---						-	52439229	G	-	52439229	7	5	76	1	0	1	0	1	0	0	0	0	1309	1000	35	0	1204	0	BAP1	3	52439229	Frame_Shift_Del	DEL	G	TCGA-YZ-A980-01A-11D-A39W-08	12086220	52439229	145583201	3	1366											
EIF2B5	8893	broad.mit.edu	37	chr3	183856019	183856019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactggattgtcatatcagCatctgttctcctcaggtgag	8	15	9	9	0	5	1	3	1	2	0	6	2	5	2	1	2	2	2	1	2	2	4			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:183856019C>T	ENST00000273783.3	+	5	872	c.750C>T	c.(748-750)agC>agT	p.S250S	EIF2B5_ENST00000444495.1_Silent_p.S250S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	250					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|RNA metabolic process	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													10	31					0	0	1	0	0	T	183856019	C	T	183856019	2	4	76	1	0	0	0	0	0	0	0	1	5030	709	25	2		2	EIF2B5	3	183856019	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08	131416790	183856019	14166411	4	1367											
TRIML1	339976	broad.mit.edu	37	chr4	189068325	189068325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtcagcacgtcagagaGcctgtgtgtaaggttggtgt	10	10	15	6	1	2	1	2	0	0	1	2	2	2	1	1	3	2	3	1	3	2	2			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr4:189068325G>A	ENST00000332517.3	+	6	1346	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	402	B30.2/SPRY.				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)		ACGTCAGAGAGCCTGTGTGTA	0.493													24	69					0	0	1	0	0	A	189068325	G	A	189068325	2	1	76	1	0	0	0	0	0	0	0	1	16611	962	34	2		2	TRIML1	4	189068325	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		189068325	2085951	5	1368											
PPARD	5467	broad.mit.edu	37	chr6	35393805	35393805	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatcaagaagaccgaaacCgagacctcgctgcaccctct	12	5	9	15	4	2	3	1	0	1	3	3	6	2	4	4	1	2	2	4	1	3	0			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr6:35393805C>G	ENST00000311565.4	+	9	1624	c.1275C>G	c.(1273-1275)acC>acG	p.T425T	PPARD_ENST00000540939.1_Silent_p.T322T|PPARD_ENST00000448077.2_Silent_p.T386T|PPARD_ENST00000360694.3_Silent_p.T425T|PPARD_ENST00000418635.2_Silent_p.T327T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	425	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGACCGAAACCGAGACCTCGC	0.607													5	26					0	0	1	0	0	G	35393805	C	G	35393805	2	3	76	1	0	0	0	0	0	0	0	1	12343	639	23	5		5	PPARD	6	35393805	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08		35393805	135721262	6	1369											
OR1L1	26737	broad.mit.edu	37	chr9	125424359	125424359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagccatggccattgaccGctatgtggccatatgtaatc	10	10	10	11	1	0	1	0	1	0	0	1	1	0	1	4	2	2	3	4	2	3	4			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr9:125424359G>A	ENST00000373686.1	+	1	515	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458													4	116					0	0	1	0	0	A	125424359	G	A	125424359	3	1	76	1	0	0	0	0	1	0	0	0	11011	1087	38	1	367	1	OR1L1	9	125424359	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		125424359	15789072	7	1370											
PSAP	5660	broad.mit.edu	37	chr10	73588803	73588803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggagagactcgcagaggTtgagagcagagcacacctcc	11	6	13	11	1	1	4	0	1	1	4	3	7	2	5	2	2	2	4	2	2	0	1			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:73588803T>C	ENST00000394936.3	-	5	554	c.407A>G	c.(406-408)aAc>aGc	p.N136S	PSAP_ENST00000394934.1_Missense_Mutation_p.N136S			P07602	SAP_HUMAN	prosaposin	136	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|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						CTCGCAGAGGTTGAGAGCAGA	0.552													13	69					0	0	1	0	0	C	73588803	T	C	73588803	3	2	76	1	0	0	0	0	1	0	0	0	12692	1725	60	4	1223	4	PSAP	10	73588803	Missense_Mutation	SNP	T	TCGA-YZ-A980-01A-11D-A39W-08		73588803	61945944	8	1371											
PLAU	5328	broad.mit.edu	37	chr10	75673396	75673396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggagaattcaccaccaTcgagaaccagccctggtttg	10	8	12	11	1	1	2	1	0	0	2	2	4	1	2	4	3	2	1	4	3	2	2			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:75673396T>C	ENST00000446342.1	+	6	991	c.509T>C	c.(508-510)aTc>aCc	p.I170T	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.I187T|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.I151T	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	187	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TTCACCACCATCGAGAACCAG	0.547													9	93					0	0	1	0	0	C	75673396	T	C	75673396	3	2	76	1	0	0	0	0	1	0	0	0	12070	1435	50	4	620	4	PLAU	10	75673396	Missense_Mutation	SNP	T	TCGA-YZ-A980-01A-11D-A39W-08	2084593	75673396	59861351	9	1372											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													5	23					0	0	1	0	0	A	132547141	G	A	132547141	2	1	76	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		132547141	1304754	10	1373											
KCNH5	27133	broad.mit.edu	37	chr14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactctaccgccaaggcgcGcagacacccatcgctggcca	10	4	10	17	4	1	1	0	0	1	1	2	2	1	1	4	2	2	2	4	2	3	1			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512													6	38					0	0	1	0	0	A	63269191	G	A	63269191	3	1	76	1	0	0	0	0	1	0	0	0	8079	1087	38	1	1334	1	KCNH5	14	63269191	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		63269191	44080349	11	1374											
RNF167	26001	broad.mit.edu	37	chr17	4846548	4846548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctttcacagggattgtggGactgctggttttggccatgg	5	13	14	9	0	1	0	1	0	0	0	1	2	1	2	2	5	1	2	2	5	0	4			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr17:4846548G>A	ENST00000262482.6	+	7	1201	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RNF167_ENST00000572430.1_Missense_Mutation_p.G182E|RNF167_ENST00000576229.1_Missense_Mutation_p.G147E|RNF167_ENST00000570492.1_Intron|RNF167_ENST00000571816.1_Missense_Mutation_p.G182E|RNF167_ENST00000575111.1_Missense_Mutation_p.G182E	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	182					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						GGGATTGTGGGACTGCTGGTT	0.547													7	26					0	0	1	0	0	A	4846548	G	A	4846548	3	1	76	1	0	0	0	0	1	0	0	0	13510	1174	41	3	567	3	RNF167	17	4846548	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		4846548	76348662	12	1375											
GNA11	2767	broad.mit.edu	37	chr19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	7	6	23	5	3	0	0	0	0	0	0	1	5	0	4	1	9	2	0	1	9	1	0			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma								7	24					0	0	1	0	0	T	3118942	A	T	3118942	3	4	76	1	0	0	0	0	1	0	0	0	6541	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		3118942	56010041	13	1376											
LYPD4	147719	broad.mit.edu	37	chr19	42342289	42342289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttgcgcagggtaagaCgaagacgagctgcagccttt	11	8	14	8	3	0	3	0	0	0	3	0	6	0	3	1	1	4	4	1	1	2	3			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr19:42342289C>T	ENST00000330743.3	-	4	1469	c.258G>A	c.(256-258)tcG>tcA	p.S86S	LYPD4_ENST00000343055.4_Silent_p.S51S|LYPD4_ENST00000601246.1_Silent_p.S51S	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	86	Poly-Ser.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAGGGTAAGACGAAGACGAGC	0.557													3	27					0	0	1	0	0	T	42342289	C	T	42342289	2	4	76	1	0	0	0	0	0	0	0	1	9158	523	19	1		1	LYPD4	19	42342289	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08	39223347	42342289	16786694	14	1377											
STK4	6789	broad.mit.edu	37	chr20	43653753	43653753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagattggaaaataccacaGgatggagactacgagtttgt	14	10	11	6	1	1	2	1	0	0	2	1	6	1	4	1	3	2	1	1	3	4	4			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr20:43653753G>A	ENST00000372806.3	+	10	1382	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	STK4_ENST00000396731.4_Silent_p.Q429Q|STK4_ENST00000372801.1_Silent_p.Q429Q|STK4_ENST00000499879.2_Silent_p.Q374Q	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	429					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AAATACCACAGGATGGAGACT	0.363													7	35					0	0	1	0	0	A	43653753	G	A	43653753	2	1	76	1	0	0	0	0	0	0	0	1	15362	991	35	3		3	STK4	20	43653753	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		43653753	19371767	15	1378											
DRG1	4733	broad.mit.edu	37	chr22	31816310	31816310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgggacataagaagataAttgaaaatgagctggaaggc	16	9	12	4	0	0	4	0	2	0	2	0	6	0	6	0	3	1	1	0	3	6	4			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr22:31816310A>G	ENST00000331457.4	+	5	642	c.481A>G	c.(481-483)Att>Gtt	p.I161V	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	161	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGAAGATAATTGAAAATGA	0.428													12	44					0	0	1	0	0	G	31816310	A	G	31816310	3	3	76	1	0	0	0	0	1	0	0	0	4787	101	4	4	499	4	DRG1	22	31816310	Missense_Mutation	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		31816310	19488256	16	1379											
EPHA2	1969	broad.mit.edu	37	chr1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgacgaggatgttgCgggcagccaggtcacggtgc	6	9	17	9	3	1	1	1	1	0	0	1	3	1	2	1	4	4	4	1	4	0	2			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAGGATGTTGCGGGCAGCCAG	0.612													3	52					0	0	1	0	0	T	16458656	C	T	16458656	3	4	77	1	0	0	0	0	1	0	0	0	5195	768	27	1	722	1	EPHA2	1	16458656	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		16458656	232791965	1	1380											
SPTA1	6708	broad.mit.edu	37	chr1	158612731	158612731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtctccaagctttgtcCgctcatcaatcagttgtgct	8	14	7	12	1	4	0	3	0	1	0	6	0	5	0	2	0	2	4	2	0	3	3			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:158612731C>T	ENST00000368147.4	-	32	4658	c.4478G>A	c.(4477-4479)cGg>cAg	p.R1493Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 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)					AAGCTTTGTCCGCTCATCAAT	0.507													38	29					0	0	1	0	0	T	158612731	C	T	158612731	3	4	77	1	0	0	0	0	1	0	0	0	15172	652	23	1	2865	1	SPTA1	1	158612731	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	142154075	158612731	90637890	2	1381											
PAPPA2	60676	broad.mit.edu	37	chr1	176563716	176563716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgggccctggggatcCgctcagggaaggacaaggga	10	4	18	9	1	1	0	1	0	0	0	2	4	2	4	2	7	0	2	2	7	3	0			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:176563716C>T	ENST00000367662.3	+	3	2140	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R326C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	326					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R326C(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGGGATCCGCTCAGGGAA	0.537													15	38					0	0	1	0	0	T	176563716	C	T	176563716	3	4	77	1	0	0	0	0	1	0	0	0	11480	652	23	1	982	1	PAPPA2	1	176563716	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	17950985	176563716	72686905	3	1382											
SCN9A	6335	broad.mit.edu	37	chr2	167056074	167056074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaggttgtaatttggAacaggcaaatcatactgttg	13	11	11	6	0	1	1	1	0	0	1	1	2	1	2	0	3	3	5	0	3	4	5			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr2:167056074A>G	ENST00000303354.6	-	27	5418	c.5078T>C	c.(5077-5079)tTc>tCc	p.F1693S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1681S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1693S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1692S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1692						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)	TGTAATTTGGAACAGGCAAAT	0.413													103	114					0	0	1	0	0	G	167056074	A	G	167056074	3	3	77	1	0	0	0	0	1	0	0	0	13979	246	9	4	895	4	SCN9A	2	167056074	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		167056074	76143299	4	1383											
SPEG	10290	broad.mit.edu	37	chr2	220352973	220352973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctggagggggaggCagccaccctgctctgcctgc	4	7	17	13	0	1	0	0	0	1	0	1	2	1	2	3	5	6	4	3	5	0	0			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr2:220352973C>G	ENST00000312358.7	+	32	7931	c.7799C>G	c.(7798-7800)gCa>gGa	p.A2600G	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2600	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGGGGGAGGCAGCCACCCTG	0.602													20	40					0	0	1	0	0	G	220352973	C	G	220352973	3	3	77	1	0	0	0	0	1	0	0	0	15092	710	25	5	7937	5	SPEG	2	220352973	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	53296899	220352973	22846400	5	1384											
IGSF10	285313	broad.mit.edu	37	chr3	151165887	151165887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaatattcttaatgtgcCattgtttagaactttcttgt	9	20	6	6	0	2	1	0	0	2	1	2	1	2	1	1	0	2	2	1	0	5	9			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr3:151165887C>T	ENST00000282466.3	-	4	1881	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	628	Ig-like C2-type 2.				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)			CTTAATGTGCCATTGTTTAGA	0.418													18	59					0	0	1	0	0	T	151165887	C	T	151165887	3	4	77	1	0	0	0	0	1	0	0	0	7641	594	21	3	6049	3	IGSF10	3	151165887	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		151165887	46856543	6	1385											
PPM1L	151742	broad.mit.edu	37	chr3	160786656	160786656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaatcctggccatgtctcGgtccctgggggattatccgc	5	10	14	12	2	1	0	0	0	1	0	5	2	4	2	4	5	0	0	4	5	2	1			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr3:160786656G>A	ENST00000498165.1	+	4	895	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPM1L_ENST00000295839.9_Missense_Mutation_p.R138Q|PPM1L_ENST00000464260.1_Missense_Mutation_p.R86Q|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	265	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCCATGTCTCGGTCCCTGGGG	0.512													4	59					0	0	1	0	0	A	160786656	G	A	160786656	3	1	77	1	0	0	0	0	1	0	0	0	12393	1116	39	1	808	1	PPM1L	3	160786656	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	9620769	160786656	37235774	7	1386											
ANK2	287	broad.mit.edu	37	chr4	114274935	114274935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagaggaaggtttacaaGctagtgcagagaaagctgaa	19	6	12	4	0	0	3	0	1	0	2	0	5	0	4	0	2	4	4	0	2	8	3			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr4:114274935G>A	ENST00000357077.4	+	38	5214	c.5161G>A	c.(5161-5163)Gct>Act	p.A1721T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1688T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1688					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)		AGGTTTACAAGCTAGTGCAGA	0.423													106	69					0	0	1	0	0	A	114274935	G	A	114274935	3	1	77	1	0	0	0	0	1	0	0	0	617	971	34	2	5376	2	ANK2	4	114274935	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		114274935	76879341	8	1387											
PGBD1	84547	broad.mit.edu	37	chr6	28268896	28268896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttgaacccagtagagcTttttgaattattttttgatg	12	17	8	4	0	0	4	0	3	0	1	0	4	0	4	1	0	2	3	1	0	5	8			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr6:28268896T>G	ENST00000405948.2	+	7	1685	c.1265T>G	c.(1264-1266)cTt>cGt	p.L422R	PGBD1_ENST00000259883.3_Missense_Mutation_p.L422R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	422					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGTAGAGCTTTTTGAATTA	0.358													108	66					0	0	1	0	0	G	28268896	T	G	28268896	3	3	77	1	0	0	0	0	1	0	0	0	11828	1609	56	5	1287	5	PGBD1	6	28268896	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		28268896	142846171	9	1388											
C6orf211	79624	broad.mit.edu	37	chr6	151790148	151790148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagctgaaattcaggttgGtctgcagcctgggcaagggg	11	8	15	7	0	2	1	1	1	1	0	2	1	2	1	1	5	3	4	1	5	4	2			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr6:151790148G>A	ENST00000367294.3	+	5	1488	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	C6orf211_ENST00000545879.1_Missense_Mutation_p.G291D	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	410							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)		ATTCAGGTTGGTCTGCAGCCT	0.478													19	34					0	0	1	0	0	A	151790148	G	A	151790148	3	1	77	1	0	0	0	0	1	0	0	0	2368	1261	44	3	1247	3	C6orf211	6	151790148	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	123521252	151790148	19324919	10	1389											
MUC17	140453	broad.mit.edu	37	chr7	100679352	100679352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacttattctcaagccaGttcatctcctacaactgctg	10	12	5	14	0	3	0	2	0	2	0	5	1	3	0	3	0	4	2	3	0	4	4			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr7:100679352G>A	ENST00000306151.4	+	3	4719	c.4655G>A	c.(4654-4656)aGt>aAt	p.S1552N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1552	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)					TCTCAAGCCAGTTCATCTCCT	0.488													11	118					0	0	1	0	0	A	100679352	G	A	100679352	3	1	77	1	0	0	0	0	1	0	0	0	10022	1029	36	3	4665	3	MUC17	7	100679352	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		100679352	58459311	11	1390											
TP53INP1	0	broad.mit.edu	37	chr8	95952120	95952120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggctatgtaattcatcagtCccacgggtggcctcactgag	8	10	12	11	1	3	1	3	1	0	0	4	1	4	1	2	3	0	2	2	3	2	3			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr8:95952120C>T	ENST00000342697.4	-	3	848	c.441G>A	c.(439-441)ggG>ggA	p.G147G	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.G147G|TP53INP1_ENST00000378776.4_Silent_p.G147G	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	147					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ATTCATCAGTCCCACGGGTGG	0.463													16	61					0	0	1	0	0	T	95952120	C	T	95952120	2	4	77	1	0	0	0	0	0	0	0	1	16449	842	30	3		3	TP53INP1	8	95952120	Silent	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		95952120	50411902	12	1391											
NFX1	0	broad.mit.edu	37	chr9	33301353	33301353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtgtggagttgtcagAgctgttaccatgtgtttcat	7	14	11	9	0	2	1	2	0	0	1	2	2	2	2	3	1	2	4	3	1	1	3			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr9:33301353A>T	ENST00000379540.3	+	3	1188	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	NFX1_ENST00000318524.6_Missense_Mutation_p.S376C|NFX1_ENST00000379521.4_Missense_Mutation_p.S376C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	376					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)		GAGTTGTCAGAGCTGTTACCA	0.418													28	80					0	0	1	0	0	T	33301353	A	T	33301353	3	4	77	1	0	0	0	0	1	0	0	0	10434	304	11	5	1136	5	NFX1	9	33301353	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		33301353	107912078	13	1392											
ASB6	140459	broad.mit.edu	37	chr9	132400196	132400196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagccggatggccacaCggcacaggtgcttgaggggc	8	5	18	10	2	0	2	0	1	0	1	0	3	0	3	2	7	2	3	2	7	1	2			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr9:132400196C>T	ENST00000277458.4	-	6	1304	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	ASB6_ENST00000450050.2_Missense_Mutation_p.R301H|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	380	SOCS box.				intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GATGGCCACACGGCACAGGTG	0.622													17	12					0	0	1	0	0	T	132400196	C	T	132400196	3	4	77	1	0	0	0	0	1	0	0	0	1026	536	19	1	130	1	ASB6	9	132400196	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	99098843	132400196	8813235	14	1393											
CCDC73	493860	broad.mit.edu	37	chr11	32637519	32637520	+	Frame_Shift_Ins	INS	-	-	T																															tcctctataaatgagccttcINSttttttttcttctttttctc																										TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr11:32637519_32637520insT	ENST00000335185.5	-	15	1384_1385	c.1341_1342insA	c.(1339-1344)aaagaafs	p.E448fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	448										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AATGAGCCTTCTTTTTTTTCTT	0.248													2	4	---	---	---	---						T	32637520	-	T	32637519	7	5	77	1	0	1	1	0	0	0	0	0	2866	922	32	0	1913	0	CCDC73	11	32637519	Frame_Shift_Ins	INS	-	TCGA-YZ-A982-01A-11D-A39W-08		32637519	102368997	15	1394											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcagtatttatttccTgaccgtgctgagtgttgtgc	7	15	11	8	1	0	2	0	2	0	0	1	2	1	2	2	0	4	5	2	0	3	6			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					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)	ATTTATTTCCTGACCGTGCTG	0.468													102	128					0	0	1	0	0	A	49281339	T	A	49281339	3	1	77	1	0	0	0	0	1	0	0	0	4225	1580	55	5	388	5	CYSLTR2	13	49281339	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		49281339	65888539	16	1395											
SPRY2	10253	broad.mit.edu	37	chr13	80911791	80911791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccaccgtcacggggcGtctgcagcaagggctgcgac	6	6	15	14	4	3	0	1	0	2	0	3	1	3	0	2	3	4	3	2	3	1	0			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:80911791G>A	ENST00000377102.1	-	2	1027	c.50C>T	c.(49-51)aCg>aTg	p.T17M	SPRY2_ENST00000540649.1_Missense_Mutation_p.T17M|SPRY2_ENST00000377104.3_Missense_Mutation_p.T17M			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	17					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GTCACGGGGCGTCTGCAGCAA	0.607													45	46					0	0	1	0	0	A	80911791	G	A	80911791	3	1	77	1	0	0	0	0	1	0	0	0	15162	1145	40	1	901	1	SPRY2	13	80911791	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	31630452	80911791	34258087	17	1396											
KIAA0430	9665	broad.mit.edu	37	chr16	15690613	15690613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgactctatttttgggttgCtttttggccgggctttccac	3	19	10	9	1	1	1	0	1	1	0	2	1	2	1	2	3	1	3	2	3	1	8			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr16:15690613C>G	ENST00000396368.3	-	27	5372	c.5166G>C	c.(5164-5166)aaG>aaC	p.K1722N	KIAA0430_ENST00000540441.2_Missense_Mutation_p.K1557N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1722N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K1410N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1721						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTTGGGTTGCTTTTTGGCCG	0.512													51	25					0	0	1	0	0	G	15690613	C	G	15690613	3	3	77	1	0	0	0	0	1	0	0	0	8219	796	28	5	66	5	KIAA0430	16	15690613	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		15690613	74664140	18	1397											
TBCD	6904	broad.mit.edu	37	chr17	80828169	80828169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcgtgggcaccaacgTcagggacgccgcctgctacg	7	5	14	15	5	1	0	1	0	0	0	1	1	1	1	3	2	5	3	3	2	2	1			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr17:80828169T>C	ENST00000355528.4	+	14	1518	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	TBCD_ENST00000397466.2_Missense_Mutation_p.V77A|TBCD_ENST00000539345.2_Missense_Mutation_p.V463A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	463					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCACCAACGTCAGGGACGCC	0.622													24	28					0	0	1	0	0	C	80828169	T	C	80828169	3	2	77	1	0	0	0	0	1	0	0	0	15693	1667	58	4	1442	4	TBCD	17	80828169	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		80828169	367041	19	1398											
MUC16	94025	broad.mit.edu	37	chr19	9083332	9083332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtggtgatttcagacatgGctgtaacctcacctgggttc	7	13	11	10	1	2	2	2	1	0	1	4	2	2	2	2	3	1	3	2	3	1	3			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:9083332G>A	ENST00000397910.4	-	1	8686	c.8483C>T	c.(8482-8484)gCc>gTc	p.A2828V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2828	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						TTCAGACATGGCTGTAACCTC	0.502													6	12					0	0	1	0	0	A	9083332	G	A	9083332	3	1	77	1	0	0	0	0	1	0	0	0	10021	1203	42	2	35376	2	MUC16	19	9083332	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		9083332	50045651	20	1399											
PPP2R1A	5518	broad.mit.edu	37	chr19	52724255	52724255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccatccgcgaggcagccAccagcaacctgaagaagcta	13	4	10	14	2	0	2	0	1	0	1	1	3	1	2	5	1	5	3	5	1	4	1			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:52724255A>C	ENST00000322088.6	+	12	1445	c.1387A>C	c.(1387-1389)Acc>Ccc	p.T463P	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.T408P|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.T284P	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	463	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|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 cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|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)		CGAGGCAGCCACCAGCAACCT	0.537			Mis		clear cell ovarian carcinoma								16	20					0	0	1	0	0	C	52724255	A	C	52724255	3	2	77	1	0	0	0	0	1	0	0	0	12431	159	6	5	1433	5	PPP2R1A	19	52724255	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08	43640923	52724255	6404728	21	1400											
VASH2	79805	broad.mit.edu	37	chr1	213146004	213146004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaaactactttcaccacGttgtgctggggatttactgc	9	12	10	10	1	1	0	1	0	0	0	1	2	1	2	1	3	5	2	1	3	3	5			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr1:213146004G>T	ENST00000366968.4	+	7	735	c.385G>T	c.(385-387)Gtt>Ttt	p.V129F	VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F|VASH2_ENST00000517399.1_Missense_Mutation_p.V194F|VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	194					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CTTTCACCACGTTGTGCTGGG	0.498													26	35					1.17739e-12	1.25859e-12	1	1	0	T	213146004	G	T	213146004	3	4	78	1	0	0	0	0	1	0	0	0	17186	1145	40	5	598	5	VASH2	1	213146004	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		213146004	36104617	1	1401											
LRP1B	53353	broad.mit.edu	37	chr2	141092048	141092048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctctgtaagttcttttgtActaaaatccttctcagtgta	9	18	6	8	0	3	0	1	0	3	0	6	0	4	0	1	0	1	4	1	0	5	8			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr2:141092048A>G	ENST00000389484.3	-	79	13168	c.12197T>C	c.(12196-12198)gTa>gCa	p.V4066A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4066					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)		GTTCTTTTGTACTAAAATCCT	0.403										TSP Lung(27;0.18)			22	24					0	0	1	0	0	G	141092048	A	G	141092048	3	3	78	1	0	0	0	0	1	0	0	0	9000	391	14	4	1654	4	LRP1B	2	141092048	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		141092048	102107325	2	1402											
GOLGA4	2803	broad.mit.edu	37	chr3	37368986	37368986	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagacagaaagaagtacAtagagttgaaatggaagagt	20	7	12	2	0	0	6	0	1	0	5	0	7	0	7	0	1	1	3	0	1	7	4			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:37368986A>C	ENST00000361924.2	+	14	5983	c.5609A>C	c.(5608-5610)cAt>cCt	p.H1870P	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1870	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						AAAGAAGTACATAGAGTTGAA	0.383													24	9					0	0	1	0	0	C	37368986	A	C	37368986	3	2	78	1	0	0	0	0	1	0	0	0	6597	217	8	5	5733	5	GOLGA4	3	37368986	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		37368986	160653444	3	1403											
TMEM39A	55254	broad.mit.edu	37	chr3	119155786	119155786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgatccacaccataatgaGgtgctcacatgaccagcgca	13	8	8	12	1	1	3	1	3	0	0	2	3	2	3	3	1	2	2	3	1	1	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:119155786G>C	ENST00000319172.5	-	7	1384	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	322						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACCATAATGAGGTGCTCACAT	0.468													33	51					0	0	1	0	0	C	119155786	G	C	119155786	3	2	78	1	0	0	0	0	1	0	0	0	16221	1000	35	5	514	5	TMEM39A	3	119155786	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	81786800	119155786	78866644	4	1404											
PCDHGB1	0	broad.mit.edu	37	chr5	140730154	140730154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcgaaacggtcgctgaaaaCccaatgaatgttttccacgt	12	11	8	10	4	0	2	0	2	0	0	3	3	1	2	2	1	2	2	2	1	5	3			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr5:140730154C>A	ENST00000523390.1	+	1	327	c.327C>A	c.(325-327)aaC>aaA	p.N109K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTGAAAACCCAATGAATG	0.423													3	26					0.115264	0.119106	1	1	0	A	140730154	C	A	140730154	3	1	78	1	0	0	0	0	1	0	0	0	11609	506	18	5	329	5	PCDHGB1	5	140730154	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		140730154	40185106	5	1405											
SNAP91	9892	broad.mit.edu	37	chr6	84291979	84291979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggaagttgaaggcGttgtcccaaaagctgcctca	9	10	12	10	1	1	1	1	1	0	0	2	2	2	2	2	2	4	5	2	2	4	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:84291979G>A	ENST00000428679.2	-	23	2704	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M|SNAP91_ENST00000439399.2_Missense_Mutation_p.T704M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	704					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTGAAGGCGTTGTCCCAAA	0.468													17	27					0	0	1	0	0	A	84291979	G	A	84291979	3	1	78	1	0	0	0	0	1	0	0	0	14887	1145	40	1	640	1	SNAP91	6	84291979	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		84291979	86823088	6	1406											
OPRM1	4988	broad.mit.edu	37	chr6	154411258	154411258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtctgcaactggatcctCtcttcagccattggtcttcc	7	14	7	13	0	4	0	1	0	3	0	7	1	6	1	3	2	3	1	3	2	2	3			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:154411258C>T	ENST00000414028.2	+	2	638	c.588C>T	c.(586-588)ctC>ctT	p.L196L	OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000428397.2_Silent_p.L196L|OPRM1_ENST00000330432.7_Silent_p.L196L|OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000518759.1_Silent_p.L115L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000524163.1_Silent_p.L196L	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	196					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACTGGATCCTCTCTTCAGCCA	0.473													25	34					0	0	1	0	0	T	154411258	C	T	154411258	2	4	78	1	0	0	0	0	0	0	0	1	10935	900	32	3		3	OPRM1	6	154411258	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	70119279	154411258	16703809	7	1407											
CACNA2D1	781	broad.mit.edu	37	chr7	81978919	81978919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactccacttgctgtttttgCcagtgtgacaaggtcttctt	6	16	9	10	0	2	1	0	1	2	0	3	2	3	1	2	1	2	2	2	1	1	5			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:81978919C>T	ENST00000356860.3	-	2	480	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48T|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48						voltage-gated calcium channel complex	metal ion binding	p.A48S(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)	GCTGTTTTTGCCAGTGTGACA	0.358													4	119					0	0	1	0	0	T	81978919	C	T	81978919	3	4	78	1	0	0	0	0	1	0	0	0	2566	739	26	2	3285	2	CACNA2D1	7	81978919	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		81978919	77159744	8	1408											
LMTK2	22853	broad.mit.edu	37	chr7	97821218	97821218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagtatgtctgggaggccGctaagcacgaccactttgac	9	9	12	11	3	1	1	0	1	1	0	2	4	1	2	2	2	1	3	2	2	2	3	rs144291659		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:97821218G>A	ENST00000297293.5	+	11	1734	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	481					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGGAGGCCGCTAAGCACGA	0.587													3	28					0	0	1	0	0	A	97821218	G	A	97821218	3	1	78	1	0	0	0	0	1	0	0	0	8900	1087	38	1	1483	1	LMTK2	7	97821218	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	15842299	97821218	61317445	9	1409											
PTPRD	5789	broad.mit.edu	37	chr9	8331704	8331704	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctggccagtcagtgaaCtggaactgccttactgttcg	7	12	11	11	1	2	1	1	1	1	0	3	2	2	2	2	2	5	2	2	2	3	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:8331704C>T	ENST00000381196.4	-	41	5955	c.5412G>A	c.(5410-5412)caG>caA	p.Q1804Q	PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q|PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1804	Tyrosine-protein phosphatase 2.				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)		AGTCAGTGAACTGGAACTGCC	0.512										TSP Lung(15;0.13)			8	103					0	0	1	0	0	T	8331704	C	T	8331704	2	4	78	1	0	0	0	0	0	0	0	1	12851	564	20	3		3	PTPRD	9	8331704	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		8331704	132881727	10	1410											
CDKN2A	1029	broad.mit.edu	37	chr9	21974744	21974744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccagcagcgcccgcAcctcctctacccgaccccgg	5	4	8	24	5	1	0	0	0	1	0	3	1	3	0	9	1	3	2	9	1	1	1			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:21974744A>C	ENST00000304494.5	-	1	353	c.83T>G	c.(82-84)gTg>gGg	p.V28G	CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCGCCCGCACCTCCTCTAC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	26					0	0	1	0	0	C	21974744	A	C	21974744	3	2	78	1	0	0	0	0	1	0	0	0	3183	159	6	5	600	5	CDKN2A	9	21974744	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08	13643040	21974744	119238687	11	1411											
GNAQ	2776	broad.mit.edu	37	chr9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	6	16	4	15	1	3	1	0	1	3	0	5	2	3	1	4	1	1	0	4	1	1	6	rs121913492		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma								25	35					0	0	1	0	0	G	80409488	T	G	80409488	3	3	78	1	0	0	0	0	1	0	0	0	6551	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08	58434744	80409488	60803943	12	1412											
GABBR2	9568	broad.mit.edu	37	chr9	101304173	101304173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagagaacctctgaacGtcttgcgtcagcgtgcccac	9	8	9	15	3	4	2	2	1	2	1	4	3	4	2	3	0	5	0	3	0	2	1	rs142025089		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:101304173G>A	ENST00000259455.2	-	3	1071	c.612C>T	c.(610-612)gaC>gaT	p.D204D	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	204					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCTCTGAACGTCTTGCGTCA	0.537													11	17					0	0	1	0	0	A	101304173	G	A	101304173	2	1	78	1	0	0	0	0	0	0	0	1	6191	1136	40	1		1	GABBR2	9	101304173	Silent	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	20894685	101304173	39909258	13	1413											
PTPMT1	114971	broad.mit.edu	37	chr11	47591272	47591272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtggaagagactaggagtCgagcagctgcggctcagcac	11	5	16	9	2	1	1	1	0	0	1	2	6	1	3	0	3	4	4	0	3	2	1			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr11:47591272C>T	ENST00000534775.1	+	2	550	c.385C>T	c.(385-387)Cga>Tga	p.R129*	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Intron|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326674.9_Silent_p.V92V			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						GACTAGGAGTCGAGCAGCTGC	0.522													10	15					0	0	1	0	0	T	47591272	C	T	47591272	4	4	78	1	0	0	0	0	0	1	0	0	12828	871	31	1	391	1	PTPMT1	11	47591272	Nonsense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		47591272	87415244	14	1414											
CD4	920	broad.mit.edu	37	chr12	6923368	6923368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgggaccaaggaaactTtcccctgatcatcaagaatc	12	10	7	12	0	2	2	2	1	0	1	4	4	3	4	4	2	1	0	4	2	4	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:6923368T>C	ENST00000011653.4	+	4	533	c.275T>C	c.(274-276)tTt>tCt	p.F92S	CD4_ENST00000541982.1_Missense_Mutation_p.F37S|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	92	Ig-like V-type.				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|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			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)				CAAGGAAACTTTCCCCTGATC	0.498													37	37					0	0	1	0	0	C	6923368	T	C	6923368	3	2	78	1	0	0	0	0	1	0	0	0	3036	1841	64	4	285	4	CD4	12	6923368	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		6923368	126928527	15	1415											
KRT79	338785	broad.mit.edu	37	chr12	53216887	53216887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtagtcaCgcagcagccgtgtcaggtcc	7	9	11	14	2	4	0	4	0	0	0	6	0	6	0	3	2	3	4	3	2	1	1			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:53216887C>T	ENST00000330553.5	-	7	1314	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	427	Coil 2.|Rod.					keratin filament	structural molecule activity			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						CTGGTAGTCACGCAGCAGCCG	0.617													13	17					0	0	1	0	0	T	53216887	C	T	53216887	3	4	78	1	0	0	0	0	1	0	0	0	8535	536	19	1	339	1	KRT79	12	53216887	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	46293519	53216887	80635008	16	1416											
PCK2	5106	broad.mit.edu	37	chr14	24569263	24569263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgcccctggtacctctGccaccaccaatcccaacgcc	7	7	8	19	1	1	0	0	0	1	0	2	0	2	0	8	2	4	2	8	2	3	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr14:24569263G>A	ENST00000545054.2	+	7	1591	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|PCK2_ENST00000216780.4_Missense_Mutation_p.A359T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	359					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)		TGGTACCTCTGCCACCACCAA	0.522													32	33					0	0	1	0	0	A	24569263	G	A	24569263	3	1	78	1	0	0	0	0	1	0	0	0	11629	1319	46	2	1101	2	PCK2	14	24569263	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		24569263	82780277	17	1417											
FES	2242	broad.mit.edu	37	chr15	91433097	91433097	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacagatgagctggcTgtggccaccgagatggtgtt	8	10	15	8	1	1	4	1	2	0	2	1	5	1	4	2	3	1	3	2	3	0	1			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr15:91433097T>G	ENST00000328850.3	+	8	1096	c.954T>G	c.(952-954)gcT>gcG	p.A318A	FES_ENST00000414248.2_Silent_p.A260A|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000450438.2_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	318					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGCTGGCTGTGGCCACCG	0.617													8	70					0	0	1	0	0	G	91433097	T	G	91433097	2	3	78	1	0	0	0	0	0	0	0	1	5853	1567	55	5		5	FES	15	91433097	Silent	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		91433097	11098295	18	1418											
TBX6	6911	broad.mit.edu	37	chr16	30099934	30099934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcaatcttcagttgtgtGatctggggacacacatgcag	9	11	12	9	0	3	1	1	1	2	0	3	2	3	2	0	2	2	4	0	2	1	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr16:30099934G>C	ENST00000553607.1	-	5	1464	c.771C>G	c.(769-771)atC>atG	p.I257M	TBX6_ENST00000395224.2_Missense_Mutation_p.I257M|TBX6_ENST00000279386.2_Missense_Mutation_p.I257M			O95947	TBX6_HUMAN	T-box 6	257					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TCAGTTGTGTGATCTGGGGAC	0.542													42	48					0	0	1	0	0	C	30099934	G	C	30099934	3	2	78	1	0	0	0	0	1	0	0	0	15722	1280	45	5	555	5	TBX6	16	30099934	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		30099934	60254819	19	1419											
MPP3	4356	broad.mit.edu	37	chr17	41879154	41879154	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgtaggcaccctggAgatcctccttcaccagcacg	7	8	11	15	1	1	1	1	0	0	1	3	2	3	1	4	3	1	5	4	3	1	2			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr17:41879154A>C	ENST00000398393.1	-	18	2008	c.1748T>G	c.(1747-1749)cTc>cGc	p.L583R	MPP3_ENST00000398389.4_Missense_Mutation_p.L558R			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	558					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGCACCCTGGAGATCCTCCTT	0.552													34	49					0	0	1	0	0	C	41879154	A	C	41879154	3	2	78	1	0	0	0	0	1	0	0	0	9784	304	11	5	88	5	MPP3	17	41879154	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		41879154	39316056	20	1420											
PLEKHG2	64857	broad.mit.edu	37	chr19	39905669	39905669	+	Frame_Shift_Del	DEL	T	T	-																															atggcctccccccgaggttcTgggagctccacatccctgag																										TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr19:39905669delT	ENST00000425673.1	+	3	472	c.147delT	c.(145-147)tctfs	p.S49fs	PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.S49fs			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	49					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)			CCCGAGGTTCTGGGAGCTCCA	0.662													2	4	---	---	---	---						-	39905669	T	-	39905669	7	5	78	1	0	1	0	1	0	0	0	0	12117	1567	55	0	153	0	PLEKHG2	19	39905669	Frame_Shift_Del	DEL	T	TCGA-YZ-A983-01A-11D-A39W-08		39905669	19223314	21	1421											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	17	9	10	5	1	1	2	0	1	1	1	3	4	1	3	0	3	1	2	0	3	7	4	rs28617310	by1000genomes	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		GGGGTAAAGGAGAGAAATCTC	0.363													8	145					0	0	1	0	0	C	11058340	A	C	11058340	1	2	78	0	1	0	0	0	0	0	0	0	1290	319	11	5		5	BAGE2	21	11058340	RNA	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		11058340	37071555	22	1422											
MECP2	4204	broad.mit.edu	37	chrX	153363100	153363102	+	In_Frame_Del	DEL	GCG	GCG	-																															ctcctcctcctccgctcggcGcggcggcggcggcggcggcc																										TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chrX:153363100_153363102delGCG	ENST00000453960.2	-	1	75_77	c.21_23delCGC	c.(19-24)gccgcg>gcg	p.7_8AA>A	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus 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)					TCCGCTCGGCgcggcggcggcgg	0.778													2	4	---	---	---	---						-	153363102	GCG	-	153363100	7	5	78	1	0	1	0	1	0	0	0	0	9473	1087	38	0	1515	0	MECP2	23	153363100	In_Frame_Del	DEL	GCG	TCGA-YZ-A983-01A-11D-A39W-08		153363100	1907460	23	1423											
FLG2	388698	broad.mit.edu	37	chr1	152328447	152328447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagactcatgttgtccaaaGccagaggattgtcctgagcc	10	10	10	11	0	1	3	1	1	0	2	3	4	3	4	4	1	2	1	4	1	2	3	rs138495442	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:152328447G>A	ENST00000388718.5	-	3	1887	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	605	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)			GTTGTCCAAAGCCAGAGGATT	0.517													4	216					0	0	1	0	0	A	152328447	G	A	152328447	2	1	79	1	0	0	0	0	0	0	0	1	5956	958	34	2		2	FLG2	1	152328447	Silent	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		152328447	96922174	1	1424											
CHML	1122	broad.mit.edu	37	chr1	241797963	241797963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggggtgttgccaaacCgtccgagacactgaaggaag	14	5	14	8	2	0	2	0	1	0	1	1	4	1	3	3	3	2	1	3	3	5	1			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:241797963C>T	ENST00000366553.1	-	1	1269	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	369					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTGCCAAACCGTCCGAGACA	0.418													15	38					0	0	1	0	0	T	241797963	C	T	241797963	3	4	79	1	0	0	0	0	1	0	0	0	3373	652	23	1	868	1	CHML	1	241797963	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	89469516	241797963	7452658	2	1425											
TOP2B	7155	broad.mit.edu	37	chr3	25665189	25665189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattatcatcataaaggaaCttaaggaggttgtcatccac	14	12	8	7	0	3	1	3	1	0	0	4	3	4	3	1	3	1	1	1	3	5	4			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:25665189C>A	ENST00000435706.2	-	21	2730	c.2529G>T	c.(2527-2529)aaG>aaT	p.K843N	TOP2B_ENST00000264331.4_Missense_Mutation_p.K848N			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	848					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CATAAAGGAACTTAAGGAGGT	0.388													3	26					6.4e-05	7.2e-05	1	1	0	A	25665189	C	A	25665189	3	1	79	1	0	0	0	0	1	0	0	0	16427	564	20	5	2400	5	TOP2B	3	25665189	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		25665189	172357241	3	1426											
BAP1	8314	broad.mit.edu	37	chr3	52437899	52437899	+	Frame_Shift_Del	DEL	T	T	-																															cccctggcttccctgttcccTtccccttatacctgtggggc																										TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:52437899delT	ENST00000460680.1	-	13	1733	c.1262delA	c.(1261-1263)aagfs	p.K421fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	421					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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)		CCCTGTTCCCTTCCCCTTATA	0.557			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							38	11	---	---	---	---						-	52437899	T	-	52437899	7	5	79	1	0	1	0	1	0	0	0	0	1309	1609	56	0	947	0	BAP1	3	52437899	Frame_Shift_Del	DEL	T	TCGA-YZ-A984-01A-11D-A39W-08	26772710	52437899	145584531	4	1427											
TMEM44	93109	broad.mit.edu	37	chr3	194346636	194346636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactcacctgaattagaCttgaatttggatccacagac	14	10	6	11	0	1	4	1	2	0	2	2	5	2	5	2	1	0	0	2	1	3	3			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:194346636C>T	ENST00000392432.2	-	3	553	c.348G>A	c.(346-348)aaG>aaA	p.K116K	TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K|TMEM44_ENST00000381975.3_Silent_p.K116K|TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000473092.1_Silent_p.K116K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	116						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAATTAGACTTGAATTTGG	0.468													49	10					0	0	1	0	0	T	194346636	C	T	194346636	2	4	79	1	0	0	0	0	0	0	0	1	16228	564	20	3		3	TMEM44	3	194346636	Silent	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	141908737	194346636	3675794	5	1428											
SPARCL1	8404	broad.mit.edu	37	chr4	88414959	88414959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactccatgatttctgggCgtggtattaccatcatcagt	9	14	8	10	1	4	1	3	1	1	0	5	1	5	1	2	2	2	1	2	2	3	3	rs145736129		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr4:88414959C>T	ENST00000418378.1	-	5	1564	c.993G>A	c.(991-993)acG>acA	p.T331T	SPARCL1_ENST00000282470.6_Silent_p.T331T|SPARCL1_ENST00000503414.1_Silent_p.T206T	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	331					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			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)		GATTTCTGGGCGTGGTATTAC	0.483													63	49					0	0	1	0	0	T	88414959	C	T	88414959	2	4	79	1	0	0	0	0	0	0	0	1	15052	755	27	1		1	SPARCL1	4	88414959	Silent	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		88414959	102739317	6	1429											
CDC40	51362	broad.mit.edu	37	chr6	110540993	110540993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcggcatttgggagctGtcaacaccattgtttttgtg	8	15	11	7	1	1	1	1	1	0	0	2	2	1	2	1	2	2	3	1	2	1	4			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr6:110540993G>A	ENST00000368932.1	+	13	1362	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I			O60508	PRP17_HUMAN	cell division cycle 40	421					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTGGGAGCTGTCAACACCAT	0.408													26	77					0	0	1	0	0	A	110540993	G	A	110540993	3	1	79	1	0	0	0	0	1	0	0	0	3092	1377	48	3	1307	3	CDC40	6	110540993	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		110540993	60574074	7	1430											
DHTKD1	55526	broad.mit.edu	37	chr10	12160871	12160871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaactctgccccttcccGttggattctttacagcaaga	9	11	9	12	1	2	1	0	0	2	1	3	4	3	3	3	2	4	2	3	2	3	5	rs143353830	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr10:12160871G>A	ENST00000263035.4	+	15	2588	c.2526G>A	c.(2524-2526)ccG>ccA	p.P842P		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	842					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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)			GCCCCTTCCCGTTGGATTCTT	0.443													4	106					0	0	1	0	0	A	12160871	G	A	12160871	2	1	79	1	0	0	0	0	0	0	0	1	4528	1132	40	1		1	DHTKD1	10	12160871	Silent	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		12160871	123373876	8	1431											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													5	38					0	0	1	0	0	G	77937662	T	G	77937662	2	3	79	1	0	0	0	0	0	0	0	1	6184	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-YZ-A984-01A-11D-A39W-08		77937662	57068854	9	1432											
ARID2	196528	broad.mit.edu	37	chr12	46287220	46287220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggcagccaactgtaggggGcacaagctcaactcctagag	12	6	12	11	0	1	1	1	0	0	1	2	1	2	1	2	3	4	4	2	3	6	3			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr12:46287220G>A	ENST00000334344.6	+	19	5337	c.5165G>A	c.(5164-5166)gGc>gAc	p.G1722D	ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D|ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1722					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)		ACTGTAGGGGGCACAAGCTCA	0.483			"N, S, F"		hepatocellular carcinoma								3	29					0	0	1	0	0	A	46287220	G	A	46287220	3	1	79	1	0	0	0	0	1	0	0	0	912	1203	42	2	5239	2	ARID2	12	46287220	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		46287220	87564675	10	1433											
HERC2	8924	broad.mit.edu	37	chr15	28441638	28441638	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaatactgggtaccaactCcatttctgatagcaacccag	13	10	7	11	0	1	2	0	2	1	0	2	2	2	2	3	1	5	2	3	1	6	4			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr15:28441638C>A	ENST00000261609.7	-	51	8197	c.8089G>T	c.(8089-8091)Gag>Tag	p.E2697*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2697					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTACCAACTCCATTTCTGAT	0.408													54	49					1.72039e-30	2.21193e-30	1	1	0	A	28441638	C	A	28441638	4	1	79	1	0	0	0	0	0	1	0	0	7099	864	30	5	6587	5	HERC2	15	28441638	Nonsense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		28441638	74089754	11	1434											
CYLD	1540	broad.mit.edu	37	chr16	50788282	50788282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagtgcagctttgtaGttttgcgtgtgttgaaagta	8	16	14	3	1	0	2	0	2	0	0	0	3	0	3	0	1	3	6	0	1	3	6			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:50788282G>T	ENST00000540145.1	+	6	1275	c.860G>T	c.(859-861)aGt>aTt	p.S287I	CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000427738.3_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	287	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGCTTTGTAGTTTTGCGTGT	0.308			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				3	49					1	1	1	1	0	T	50788282	G	T	50788282	3	4	79	1	0	0	0	0	1	0	0	0	4166	1029	36	5	870	5	CYLD	16	50788282	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		50788282	39566471	12	1435											
CNOT1	23019	broad.mit.edu	37	chr16	58610395	58610395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccacatcaagtattCgagacaatttggcctgatca	11	10	9	11	1	2	2	2	1	0	1	3	3	2	2	3	2	0	1	3	2	3	3			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:58610395C>A	ENST00000317147.5	-	14	2008	c.1676G>T	c.(1675-1677)cGa>cTa	p.R559L	CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L|CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	559					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)		ATCAAGTATTCGAGACAATTT	0.478													3	71					1	1	1	1	0	A	58610395	C	A	58610395	3	1	79	1	0	0	0	0	1	0	0	0	3640	884	31	5	5820	5	CNOT1	16	58610395	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	7822113	58610395	31744358	13	1436											
ATP2A3	489	broad.mit.edu	37	chr17	3833685	3833685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaacacctcacagtcgatgCcggcaaagagcgggttgtct	10	7	12	12	4	2	1	1	0	1	1	3	3	2	1	2	2	3	2	2	2	2	1			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:3833685C>T	ENST00000309890.7	-	18	2804	c.2654G>A	c.(2653-2655)gGc>gAc	p.G885D	ATP2A3_ENST00000352011.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	885					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACAGTCGATGCCGGCAAAGAG	0.612													3	26					0	0	1	0	0	T	3833685	C	T	3833685	3	4	79	1	0	0	0	0	1	0	0	0	1137	739	26	2	572	2	ATP2A3	17	3833685	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		3833685	77361525	14	1437											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674277	3674277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggtgagtggtccacaCaaggcaggtcaggttcacca	9	6	15	11	1	2	1	2	1	0	0	3	1	3	1	3	6	0	2	3	6	1	1			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr20:3674277C>T	ENST00000344754.4	-	13	3324	c.3325G>A	c.(3325-3327)Gtg>Atg	p.V1109M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1109	Ig-like C2-type 11.				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						GTGGTCCACACAAGGCAGGTC	0.652													12	12					0	0	1	0	0	T	3674277	C	T	3674277	3	4	79	1	0	0	0	0	1	0	0	0	14360	478	17	3	1840	3	SIGLEC1	20	3674277	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		3674277	59351243	15	1438											
ISG15	9636	broad.mit.edu	37	chr1	949767	949767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggaggaccagctccCgctgggggagtacggcctca	6	5	15	15	2	1	0	1	0	0	0	2	3	2	3	5	5	2	3	5	5	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:949767C>T	ENST00000379389.4	+	2	558	c.407C>T	c.(406-408)cCg>cTg	p.P136L		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	136	Ubiquitin-like 2.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	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;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GACCAGCTCCCGCTGGGGGAG	0.677													5	36					0	0	1	0	0	T	949767	C	T	949767	3	4	80	1	0	0	0	0	1	0	0	0	7897	652	23	1	413	1	ISG15	1	949767	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		949767	248300854	1	1439											
AGRN	375790	broad.mit.edu	37	chr1	977395	977395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgccgtggccgtcccCgctgctcctgcgaccgcgtc	1	8	12	20	7	0	0	0	0	0	0	4	1	3	0	7	1	2	2	7	1	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:977395C>T	ENST00000379370.2	+	7	1287	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	413	Kazal-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGGCCGTCCCCGCTGCTCCTG	0.692													13	30					0	0	1	0	0	T	977395	C	T	977395	3	4	80	1	0	0	0	0	1	0	0	0	394	652	23	1	1263	1	AGRN	1	977395	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	27628	977395	248273226	2	1440											
UBE2J2	118424	broad.mit.edu	37	chr1	1190771	1190771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaatcccgttctggaCgaggtgcgtctccccgtctg	5	10	12	14	4	3	1	0	1	3	0	5	3	4	2	3	2	2	2	3	2	1	1	rs146586696		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:1190771C>T	ENST00000347370.2	-	7	909	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	UBE2J2_ENST00000339385.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V198I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V146I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V198I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V214I	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	198					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTTCTGGACGAGGTGCGTC	0.607													12	61					0	0	1	0	0	T	1190771	C	T	1190771	3	4	80	1	0	0	0	0	1	0	0	0	16922	536	19	1	191	1	UBE2J2	1	1190771	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	213376	1190771	248059850	3	1441											
PANK4	55229	broad.mit.edu	37	chr1	2445850	2445850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgccggaacttctccGccctctcggctgcatccaca	6	10	7	18	3	3	0	0	0	3	0	6	1	4	1	4	2	3	2	4	2	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:2445850G>A	ENST00000378466.3	-	11	1442	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	PANK4_ENST00000435556.3_Missense_Mutation_p.A438V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	477					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-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)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAACTTCTCCGCCCTCTCGGC	0.622													16	31					0	0	1	0	0	A	2445850	G	A	2445850	3	1	80	1	0	0	0	0	1	0	0	0	11466	1087	38	1	927	1	PANK4	1	2445850	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1255079	2445850	246804771	4	1442											
CAMTA1	23261	broad.mit.edu	37	chr1	7731000	7731000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcctcatcacaggcccGtggcaagaagccagcaataa	14	5	10	12	1	2	1	2	0	0	1	3	1	3	1	3	3	2	2	3	3	5	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:7731000G>A	ENST00000303635.7	+	10	2889	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	CAMTA1_ENST00000439411.2_Silent_p.P894P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	894	IPT/TIG.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCACAGGCCCGTGGCAAGAAG	0.597			T	WWTR1	epitheliod hemangioendothelioma								38	34					0	0	1	0	0	A	7731000	G	A	7731000	2	1	80	1	0	0	0	0	0	0	0	1	2631	1132	40	1		1	CAMTA1	1	7731000	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5285150	7731000	241519621	5	1443											
RERE	473	broad.mit.edu	37	chr1	8716302	8716302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctctctctctcggtcccGgtctcggtcccggtccttct	0	16	8	17	4	5	0	0	0	5	0	12	0	8	0	3	4	0	0	3	4	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:8716302G>A	ENST00000337907.3	-	3	689	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	RERE_ENST00000400908.2_Missense_Mutation_p.R19W|RERE_ENST00000400907.2_Missense_Mutation_p.R19W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	19					multicellular organismal development|NLS-bearing substrate import into nucleus	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)		tctcggtcccggtctcggtcc	0.527													10	96					0	0	1	0	0	A	8716302	G	A	8716302	3	1	80	1	0	0	0	0	1	0	0	0	13283	1115	39	1	4733	1	RERE	1	8716302	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	985302	8716302	240534319	6	1444											
SPSB1	80176	broad.mit.edu	37	chr1	9416004	9416004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacatgagggaccccacGtacaggcccctgaagcagga	11	4	14	12	1	0	2	0	2	0	0	0	5	0	5	4	4	2	2	4	4	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:9416004G>A	ENST00000328089.6	+	2	395	c.54G>A	c.(52-54)acG>acA	p.T18T	SPSB1_ENST00000377399.2_Silent_p.T18T|SPSB1_ENST00000357898.3_Silent_p.T18T	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	18					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACCCCACGTACAGGCCCC	0.582													3	49					0	0	1	0	0	A	9416004	G	A	9416004	2	1	80	1	0	0	0	0	0	0	0	1	15168	1132	40	1		1	SPSB1	1	9416004	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	699702	9416004	239834617	7	1445											
DHRS3	9249	broad.mit.edu	37	chr1	12677172	12677172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacctttctggcgccgCgctccgcgaactcgcgggcg	3	8	14	16	8	1	0	0	0	1	0	3	1	2	0	3	3	2	2	3	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:12677172C>T	ENST00000376223.2	-	1	565	c.182G>A	c.(181-183)cGc>cAc	p.R61H		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	61					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	p.R61H(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTGGCGCCGCGCTCCGCGAA	0.746													6	15					0	0	1	0	0	T	12677172	C	T	12677172	3	4	80	1	0	0	0	0	1	0	0	0	4519	768	27	1	750	1	DHRS3	1	12677172	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3261168	12677172	236573449	8	1446											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958885	17958885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccgtgtacggtgaccgcGggcagctaattaagtccaag	11	7	13	10	4	0	2	0	1	0	1	1	2	1	2	3	2	2	3	3	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:17958885G>A	ENST00000361221.3	+	16	1813	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.G310R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G552R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G330R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G260R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	552					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)		CGGTGACCGCGGGCAGCTAAT	0.592													10	94					0	0	1	0	0	A	17958885	G	A	17958885	3	1	80	1	0	0	0	0	1	0	0	0	892	1116	39	1	1712	1	ARHGEF10L	1	17958885	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5281713	17958885	231291736	9	1447											
TAS1R2	80834	broad.mit.edu	37	chr1	19181079	19181079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggcgatccacacggcGccagtgaagttctggcgcag	8	6	15	12	5	1	1	0	1	1	0	3	3	2	2	2	4	0	2	2	4	1	1	rs148401055		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19181079G>A	ENST00000375371.3	-	3	906	c.885C>T	c.(883-885)ggC>ggT	p.G295G	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	295					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.G295G(1)		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)	TCCACACGGCGCCAGTGAAGT	0.632													7	8					0	0	1	0	0	A	19181079	G	A	19181079	2	1	80	1	0	0	0	0	0	0	0	1	15620	1074	38	1		1	TAS1R2	1	19181079	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1222194	19181079	230069542	10	1448											
AKR7L	246181	broad.mit.edu	37	chr1	19596161	19596161	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgccgggtggtggCgctgtacatgccctgtaagg	5	10	14	12	2	0	0	0	0	0	0	1	0	1	0	4	4	3	3	4	4	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19596161C>T	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGGTGGTGGCGCTGTACATG	0.552													14	4					0	0	1	0	0	T	19596161	C	T	19596161	1	4	80	0	1	0	0	0	0	0	0	0	474	768	27	1		1	AKR7L	1	19596161	RNA	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	415082	19596161	229654460	11	1449											
NBPF3	84224	broad.mit.edu	37	chr1	21809642	21809642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctccttttccaggctcaaCgaggtgctgatggaagcaga	9	10	12	10	1	2	2	1	1	1	1	4	4	3	3	2	3	3	3	2	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:21809642C>T	ENST00000318220.6	+	18	2545	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	NBPF3_ENST00000454000.2_Silent_p.N485N|NBPF3_ENST00000342104.5_Silent_p.N543N|NBPF3_ENST00000318249.5_Silent_p.N555N			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	555	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)		CCAGGCTCAACGAGGTGCTGA	0.458													32	29					0	0	1	0	0	T	21809642	C	T	21809642	2	4	80	1	0	0	0	0	0	0	0	1	10245	535	19	1		1	NBPF3	1	21809642	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2213481	21809642	227440979	12	1450											
ALPL	249	broad.mit.edu	37	chr1	21903969	21903969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccaagggccccatggCgcacctgctgcacggcgtcc	5	7	11	18	3	1	0	0	0	1	0	3	0	2	0	5	3	2	3	5	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:21903969C>T	ENST00000374840.3	+	12	1653	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	ALPL_ENST00000425315.2_Missense_Mutation_p.A468V|ALPL_ENST00000540617.1_Missense_Mutation_p.A413V|ALPL_ENST00000374830.1_Missense_Mutation_p.A114V|ALPL_ENST00000539907.1_Missense_Mutation_p.A391V|ALPL_ENST00000374829.1_Missense_Mutation_p.A114V|ALPL_ENST00000374832.1_Missense_Mutation_p.A468V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	468			A -> T (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGCCCCATGGCGCACCTGCTG	0.677													4	39					0	0	1	0	0	T	21903969	C	T	21903969	3	4	80	1	0	0	0	0	1	0	0	0	543	768	27	1	1445	1	ALPL	1	21903969	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	94327	21903969	227346652	13	1451											
HSPG2	3339	broad.mit.edu	37	chr1	22176662	22176662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagacgatgactcgatccGgaccgtgggggtgaccccaa	10	5	14	12	5	0	3	0	2	0	1	2	7	1	4	4	3	0	0	4	3	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:22176662G>A	ENST00000374695.3	-	57	7397	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2440	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACTCGATCCGGACCGTGGGG	0.637													11	32					0	0	1	0	0	A	22176662	G	A	22176662	3	1	80	1	0	0	0	0	1	0	0	0	7474	1115	39	1	6021	1	HSPG2	1	22176662	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	272693	22176662	227073959	14	1452											
GRHL3	57822	broad.mit.edu	37	chr1	24669203	24669203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgagaggaagatgcGcgatgacgagcggaagcagt	12	4	19	6	4	0	3	0	2	0	2	0	9	0	6	0	3	4	2	0	3	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:24669203G>A	ENST00000361548.4	+	10	1456	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRHL3_ENST00000342072.4_Missense_Mutation_p.R316H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363H|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414H	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AGGAAGATGCGCGATGACGAG	0.607													16	38					0	0	1	0	0	A	24669203	G	A	24669203	3	1	80	1	0	0	0	0	1	0	0	0	6806	1087	38	1	1300	1	GRHL3	1	24669203	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2492541	24669203	224581418	15	1453											
TRIM63	84676	broad.mit.edu	37	chr1	26386770	26386770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaccttggtcactcgaCgggaatcctccagctgagtg	7	9	11	14	3	2	1	2	1	0	0	5	3	4	2	3	2	1	2	3	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:26386770C>T	ENST00000374272.3	-	4	722	c.584G>A	c.(583-585)cGt>cAt	p.R195H		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	195	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCACTCGACGGGAATCCTC	0.572													22	29					0	0	1	0	0	T	26386770	C	T	26386770	3	4	80	1	0	0	0	0	1	0	0	0	16599	536	19	1	501	1	TRIM63	1	26386770	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1717567	26386770	222863851	16	1454											
PTPRU	10076	broad.mit.edu	37	chr1	29638168	29638168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctaggtgaaatgctcacGgtactggccggaggactcag	9	8	13	11	2	3	1	2	1	1	0	3	3	3	3	2	5	2	2	2	5	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:29638168G>A	ENST00000356870.3	+	22	3097	c.2987G>A	c.(2986-2988)cGg>cAg	p.R996Q	PTPRU_ENST00000428026.2_Missense_Mutation_p.R987Q|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R996Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R990Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R1000Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R996Q	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1000	Tyrosine-protein phosphatase 1.				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)		AAATGCTCACGGTACTGGCCG	0.617													24	29					0	0	1	0	0	A	29638168	G	A	29638168	3	1	80	1	0	0	0	0	1	0	0	0	12865	1116	39	1	3107	1	PTPRU	1	29638168	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3251398	29638168	219612453	17	1455											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960849	33960849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtgtggaaaattcttcCgtgaccgttctaacctcatt	9	15	8	9	2	3	2	1	2	2	0	4	3	4	3	3	1	1	1	3	1	3	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:33960849C>T	ENST00000361328.3	+	8	3058	c.2905C>T	c.(2905-2907)Cgt>Tgt	p.R969C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	969					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)				AAAATTCTTCCGTGACCGTTC	0.498													19	14					0	0	1	0	0	T	33960849	C	T	33960849	3	4	80	1	0	0	0	0	1	0	0	0	18273	652	23	1	2931	1	ZSCAN20	1	33960849	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4322681	33960849	215289772	18	1456											
CSMD2	114784	broad.mit.edu	37	chr1	34090146	34090146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcgccttcggggaccacGatcttccacacacagttgag	9	7	10	15	3	1	1	0	1	1	0	3	3	2	2	4	2	1	1	4	2	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:34090146G>A	ENST00000373381.4	-	35	5774	c.5598C>T	c.(5596-5598)atC>atT	p.I1866I	CSMD2_ENST00000373380.1_Silent_p.I739I|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1826	CUB 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)				CGGGGACCACGATCTTCCACA	0.647													8	38					0	0	1	0	0	A	34090146	G	A	34090146	2	1	80	1	0	0	0	0	0	0	0	1	3970	1048	37	1		1	CSMD2	1	34090146	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	129297	34090146	215160475	19	1457											
DLGAP3	58512	broad.mit.edu	37	chr1	35365688	35365688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcctggcctggtccaCgctggaggagcgacgggtgg	5	8	17	11	3	0	1	0	1	0	0	2	4	2	3	3	6	1	1	3	6	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:35365688C>T	ENST00000373347.1	-	4	1562	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.V432M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	432					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCTGGTCCACGCTGGAGGAG	0.647													9	18					0	0	1	0	0	T	35365688	C	T	35365688	3	4	80	1	0	0	0	0	1	0	0	0	4589	536	19	1	1681	1	DLGAP3	1	35365688	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1275542	35365688	213884933	20	1458											
GRIK3	2899	broad.mit.edu	37	chr1	37307503	37307503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtcattcccgtatagcGtcctgtctgatttccgaaac	8	12	8	13	4	2	1	1	1	1	0	5	2	5	1	4	1	2	1	4	1	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:37307503G>A	ENST00000373091.3	-	10	1380	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T455M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	455					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	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.T455M(1)		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)	CCCGTATAGCGTCCTGTCTGA	0.577													43	44					0	0	1	0	0	A	37307503	G	A	37307503	3	1	80	1	0	0	0	0	1	0	0	0	6816	1145	40	1	1423	1	GRIK3	1	37307503	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1941815	37307503	211943118	21	1459											
COL9A2	1298	broad.mit.edu	37	chr1	40776803	40776803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatcacccagaatcccgcGtttgcccgcatgcccctgaa	9	7	9	16	3	1	2	1	1	0	1	2	3	2	3	5	1	2	2	5	1	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:40776803G>A	ENST00000372748.3	-	12	688	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	198	Triple-helical region 3 (COL3).				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)			AGAATCCCGCGTTTGCCCGCA	0.622													8	18					0	0	1	0	0	A	40776803	G	A	40776803	3	1	80	1	0	0	0	0	1	0	0	0	3731	1145	40	1	1561	1	COL9A2	1	40776803	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3469300	40776803	208473818	22	1460											
HIVEP3	59269	broad.mit.edu	37	chr1	42048953	42048953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggatgacaggggctcccGgtagaggctggattttgggg	6	9	20	6	1	0	2	0	1	0	1	1	4	1	4	1	8	0	3	1	8	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:42048953G>A	ENST00000372584.1	-	3	2530	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	HIVEP3_ENST00000372583.1_Missense_Mutation_p.R506W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R506W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R506W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				AGGGGCTCCCGGTAGAGGCTG	0.632													22	40					0	0	1	0	0	A	42048953	G	A	42048953	3	1	80	1	0	0	0	0	1	0	0	0	7229	1115	39	1	5728	1	HIVEP3	1	42048953	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1272150	42048953	207201668	23	1461											
ST3GAL3	6487	broad.mit.edu	37	chr1	44386217	44386217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaatggcctcatgggcCggggggtgagatatctgggc	8	8	16	9	1	3	1	2	1	1	1	3	2	3	1	2	6	1	0	2	6	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:44386217C>T	ENST00000262915.3	+	11	1270	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R311W|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R334W|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R350W|ST3GAL3_ENST00000335430.6_Silent_p.A217A|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R350W|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R265W|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R265W|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R296W|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R266W|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R280W|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R334W|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R365W|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372366.1_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	296					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTCATGGGCCGGGGGGTGAG	0.607													14	16					0	0	1	0	0	T	44386217	C	T	44386217	3	4	80	1	0	0	0	0	1	0	0	0	15272	643	23	1	1131	1	ST3GAL3	1	44386217	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2337264	44386217	204864404	24	1462											
SLC6A9	6536	broad.mit.edu	37	chr1	44463572	44463572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcagagccggaacatggcGtagagggggatgcagaggac	11	3	19	8	3	0	3	0	0	0	3	0	6	0	6	1	6	3	3	1	6	2	1	rs145370858		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:44463572G>A	ENST00000372310.3	-	13	1827	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	SLC6A9_ENST00000360584.2_Silent_p.Y627Y|SLC6A9_ENST00000475075.2_Silent_p.Y443Y|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.Y573Y	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	627						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)	GGAACATGGCGTAGAGGGGGA	0.637													4	16					0	0	1	0	0	A	44463572	G	A	44463572	2	1	80	1	0	0	0	0	0	0	0	1	14746	1140	40	1		1	SLC6A9	1	44463572	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	77355	44463572	204787049	25	1463											
DMBX1	127343	broad.mit.edu	37	chr1	46976849	46976849	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccccgaggatcagccGgaccgtgaggaggaccccag	9	3	14	15	3	2	1	2	1	0	0	2	6	2	5	6	4	2	0	6	4	0	0	rs147071342		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:46976849G>A	ENST00000371956.4	+	3	606	c.591G>A	c.(589-591)ccG>ccA	p.P197P	DMBX1_ENST00000360032.3_Silent_p.P192P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	197					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGATCAGCCGGACCGTGAGG	0.677													4	8					0	0	1	0	0	A	46976849	G	A	46976849	2	1	80	1	0	0	0	0	0	0	0	1	4606	1103	39	1		1	DMBX1	1	46976849	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2513277	46976849	202273772	26	1464											
LRP8	7804	broad.mit.edu	37	chr1	53742398	53742398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatttgtctttgcagtcGcggtcgccgtcgcagcgcca	4	11	12	14	7	1	0	0	0	1	0	5	1	2	0	3	1	2	2	3	1	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:53742398G>A	ENST00000306052.6	-	5	950	c.849C>T	c.(847-849)cgC>cgT	p.R283R	LRP8_ENST00000354412.3_Intron|LRP8_ENST00000371454.2_Silent_p.R283R|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	283	LDL-receptor class A 6.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTTGCAGTCGCGGTCGCCGT	0.731													2	0					0	0	1	0	0	A	53742398	G	A	53742398	2	1	80	1	0	0	0	0	0	0	0	1	9008	1074	38	1		1	LRP8	1	53742398	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6765549	53742398	195508223	27	1465											
CDCP2	200008	broad.mit.edu	37	chr1	54610386	54610386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatccctcggccaccacGatcagccagctgcactctgt	8	7	10	16	2	2	0	1	0	1	0	4	3	3	1	4	2	3	2	4	2	0	0	rs150004831		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:54610386G>A	ENST00000371330.1	-	2	1027	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	60	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557													10	9					0	0	1	0	0	A	54610386	G	A	54610386	2	1	80	1	0	0	0	0	0	0	0	1	3116	1048	37	1		1	CDCP2	1	54610386	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	867988	54610386	194640235	28	1466											
CACHD1	57685	broad.mit.edu	37	chr1	65141094	65141094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtagggggatttgaCgaaccttgtgcatggcagcc	7	12	14	8	1	1	1	0	1	1	0	1	3	1	2	2	3	3	4	2	3	2	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:65141094C>T	ENST00000371073.2	+	20	2738	c.2738C>T	c.(2737-2739)aCg>aTg	p.T913M	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M			Q5VU97	CAHD1_HUMAN	cache domain containing 1	913					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						GGGGATTTGACGAACCTTGTG	0.463											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	67					0	0	1	0	0	T	65141094	C	T	65141094	3	4	80	1	0	0	0	0	1	0	0	0	2555	536	19	1	2663	1	CACHD1	1	65141094	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10530708	65141094	184109527	29	1467											
CLCA1	1179	broad.mit.edu	37	chr1	86959980	86959980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attacagtgacttccaaaacGaacaaggacaccagcaaatt	18	7	6	10	1	0	1	0	1	0	0	1	3	1	2	2	1	4	1	2	1	6	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:86959980G>A	ENST00000234701.3	+	12	2142	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_ENST00000394711.1_Silent_p.T597T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	597					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)		CTTCCAAAACGAACAAGGACA	0.517													18	21					0	0	1	0	0	A	86959980	G	A	86959980	2	1	80	1	0	0	0	0	0	0	0	1	3480	1045	37	1		1	CLCA1	1	86959980	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	21818886	86959980	162290641	30	1468											
SYPL2	284612	broad.mit.edu	37	chr1	110022032	110022032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacttcttcctgtgggcCgggaactgttggtttgtgtt	5	16	12	8	1	2	0	1	0	1	0	3	1	3	1	2	3	2	3	2	3	2	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:110022032C>T	ENST00000369872.3	+	6	897	c.681C>T	c.(679-681)gcC>gcT	p.A227A	SYPL2_ENST00000401021.3_Silent_p.A163A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	227	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.A227A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_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;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGGCCGGGAACTGTT	0.582													4	85					0	0	1	0	0	T	110022032	C	T	110022032	2	4	80	1	0	0	0	0	0	0	0	1	15520	639	23	1		1	SYPL2	1	110022032	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	23062052	110022032	139228589	31	1469											
NOTCH2	4853	broad.mit.edu	37	chr1	120506201	120506201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagtgggcttacctgaCgtgcctggctggcagttgca	8	9	14	10	1	0	2	0	1	0	1	0	2	0	2	2	3	4	5	2	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:120506201C>T	ENST00000256646.2	-	11	2130	c.1911G>A	c.(1909-1911)acG>acA	p.T637T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	637	EGF-like 16; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T637T(1)		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)		GCTTACCTGACGTGCCTGGCT	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				9	136					0	0	1	0	0	T	120506201	C	T	120506201	2	4	80	1	0	0	0	0	0	0	0	1	10595	523	19	1		1	NOTCH2	1	120506201	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10484169	120506201	128744420	32	1470											
VPS72	6944	broad.mit.edu	37	chr1	151149201	151149201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcgggccggggcccagGgctgaggcagtgggcggcag	4	3	24	10	3	0	1	0	1	0	0	0	1	0	1	2	9	0	3	2	9	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:151149201G>A	ENST00000354473.4	-	6	1083	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A				Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	338	Poly-Pro.|Pro-rich.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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)			CGGGGCCCAGGGCTGAGGCAG	0.572													3	57					0	0	1	0	0	A	151149201	G	A	151149201	2	1	80	1	0	0	0	0	0	0	0	1	17277	1219	43	3		3	VPS72	1	151149201	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	30643000	151149201	98101420	33	1471											
TCHH	7062	broad.mit.edu	37	chr1	152081633	152081633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcacgctcttggcggcGcagcggctgttcctcccttt	2	13	11	15	4	3	0	1	0	2	0	5	0	5	0	2	3	1	4	2	3	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:152081633G>A	ENST00000368804.1	-	2	4059	c.4060C>T	c.(4060-4062)Cgc>Tgc	p.R1354C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1354	23 X 26 AA approximate tandem repeats.			R -> L (in Ref. 1; AAA65582).	keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGCGGCGCAGCGGCTGT	0.572													18	171					0	0	1	0	0	A	152081633	G	A	152081633	3	1	80	1	0	0	0	0	1	0	0	0	15760	1087	38	1	1775	1	TCHH	1	152081633	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	932432	152081633	97168988	34	1472											
HRNR	388697	broad.mit.edu	37	chr1	152187596	152187596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccttgtcggccgtggcccGaagactgacgggagccagac	8	5	14	14	4	0	3	0	1	0	2	1	5	0	4	4	3	1	0	4	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:152187596G>A	ENST00000368801.2	-	3	6584	c.6509C>T	c.(6508-6510)tCg>tTg	p.S2170L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2170					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)			GCCGTGGCCCGAAGACTGACG	0.627													22	790					0	0	1	0	0	A	152187596	G	A	152187596	3	1	80	1	0	0	0	0	1	0	0	0	7400	1059	37	1	2047	1	HRNR	1	152187596	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	105963	152187596	97063025	35	1473											
EFNA4	1945	broad.mit.edu	37	chr1	155041446	155041446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgcttctgattcttcGtcttctgcgaattctgtgag	5	17	9	10	2	5	2	0	2	5	0	6	3	5	2	0	0	3	2	0	0	1	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155041446G>A	ENST00000368409.3	+	4	680	c.587G>A	c.(586-588)cGt>cAt	p.R196H	EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	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)			CTGATTCTTCGTCTTCTGCGA	0.597													11	33					0	0	1	0	0	A	155041446	G	A	155041446	3	1	80	1	0	0	0	0	1	0	0	0	4979	1145	40	1	601	1	EFNA4	1	155041446	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2853850	155041446	94209175	36	1474											
THBS3	7059	broad.mit.edu	37	chr1	155167889	155167889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccctcaggatccaggaCgacggtctgataggcccgaa	11	6	11	13	3	3	1	2	1	1	0	4	5	4	3	3	4	0	0	3	4	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155167889C>T	ENST00000368378.3	-	18	2217	c.2197G>A	c.(2197-2199)Gtc>Atc	p.V733I	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.V613I|THBS3_ENST00000541990.1_Missense_Mutation_p.V262I|THBS3_ENST00000541576.1_Missense_Mutation_p.V130I	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	733	TSP C-terminal.				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)			GGATCCAGGACGACGGTCTGA	0.552													4	23					0	0	1	0	0	T	155167889	C	T	155167889	3	4	80	1	0	0	0	0	1	0	0	0	15915	536	19	1	697	1	THBS3	1	155167889	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	126443	155167889	94082732	37	1475											
SYT11	23208	broad.mit.edu	37	chr1	155838012	155838012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggaacctgttggtggaCgcagcagaggctggcctgct	7	8	16	10	2	0	1	0	0	0	1	0	3	0	3	2	5	3	6	2	5	2	2	rs73002934	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155838012C>T	ENST00000368324.4	+	2	544	c.291C>T	c.(289-291)gaC>gaT	p.D97D	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	97						cell junction|synaptic vesicle membrane	protein binding|transporter activity			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)			TGTTGGTGGACGCAGCAGAGG	0.517													27	33					0	0	1	0	0	T	155838012	C	T	155838012	2	4	80	1	0	0	0	0	0	0	0	1	15524	535	19	1		1	SYT11	1	155838012	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	670123	155838012	93412609	38	1476											
ARHGEF11	9826	broad.mit.edu	37	chr1	156907251	156907251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtcggtgcttgagtcCgggggtcctgatggcatgct	4	11	18	8	2	0	2	0	2	0	0	3	3	2	2	2	5	2	3	2	5	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:156907251C>T	ENST00000368194.3	-	39	5269	c.4230G>A	c.(4228-4230)ccG>ccA	p.P1410P	ARHGEF11_ENST00000315174.8_Silent_p.P786P|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.P1370P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1370					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCTTGAGTCCGGGGGTCCTG	0.592													3	26					0	0	1	0	0	T	156907251	C	T	156907251	2	4	80	1	0	0	0	0	0	0	0	1	893	639	23	1		1	ARHGEF11	1	156907251	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1069239	156907251	92343370	39	1477											
KIRREL	55243	broad.mit.edu	37	chr1	158047863	158047863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgagctctctgacgaCgcctcttacgagtgccaggc	7	9	12	13	3	2	2	0	2	2	0	3	5	2	2	2	1	4	2	2	1	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:158047863C>T	ENST00000368173.3	+	3	689	c.285C>T	c.(283-285)gaC>gaT	p.D95D	KIRREL_ENST00000392272.2_Silent_p.D95D|KIRREL_ENST00000359209.6_Silent_p.D95D|KIRREL_ENST00000360089.4_Silent_p.D34D|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	95	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCTCTGACGACGCCTCTTACG	0.612													46	47					0	0	1	0	0	T	158047863	C	T	158047863	2	4	80	1	0	0	0	0	0	0	0	1	8367	535	19	1		1	KIRREL	1	158047863	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1140612	158047863	91202758	40	1478											
ATP1A2	477	broad.mit.edu	37	chr1	160105664	160105664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttgaagaaatccatcGcctacaccctgaccagcaac	15	6	5	15	1	0	3	0	2	0	1	2	3	1	3	4	0	4	1	4	0	5	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:160105664G>A	ENST00000361216.3	+	17	2409	c.2320G>A	c.(2320-2322)Gcc>Acc	p.A774T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A774T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	774					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)			GAAATCCATCGCCTACACCCT	0.567													21	54					0	0	1	0	0	A	160105664	G	A	160105664	3	1	80	1	0	0	0	0	1	0	0	0	1128	1087	38	1	2386	1	ATP1A2	1	160105664	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2057801	160105664	89144957	41	1479											
NOS1AP	9722	broad.mit.edu	37	chr1	162336952	162336952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattcgccgccgctgggcGcgggcttggctgactttgcc	2	10	15	14	5	0	1	0	1	0	0	1	1	0	1	3	3	2	4	3	3	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:162336952G>A	ENST00000493151.1	+	2	2698	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A401T|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A92T|NOS1AP_ENST00000361897.5_Missense_Mutation_p.A406T	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	406	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCCGCTGGGCGCGGGCTTGGC	0.662													30	45					0	0	1	0	0	A	162336952	G	A	162336952	3	1	80	1	0	0	0	0	1	0	0	0	10589	1087	38	1	1308	1	NOS1AP	1	162336952	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2231288	162336952	86913669	42	1480											
RXRG	6258	broad.mit.edu	37	chr1	165378811	165378811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctgtcaaagatggagcCgaccccagcactgtgggcac	11	5	11	14	1	1	1	1	0	0	1	1	3	1	2	4	2	2	2	4	2	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:165378811C>T	ENST00000359842.5	-	7	1332	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	344	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	AAGATGGAGCCGACCCCAGCA	0.517													6	5					0	0	1	0	0	T	165378811	C	T	165378811	3	4	80	1	0	0	0	0	1	0	0	0	13817	652	23	1	377	1	RXRG	1	165378811	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3041859	165378811	83871810	43	1481											
GPA33	10223	broad.mit.edu	37	chr1	167024307	167024307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgagggctgcaaccaCgcccaccgcgatgcccacat	11	5	10	15	3	0	1	0	1	0	0	0	3	0	1	4	1	3	2	4	1	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:167024307C>T	ENST00000367868.3	-	6	1076	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	245						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCTGCAACCACGCCCACCGCG	0.577													6	16					0	0	1	0	0	T	167024307	C	T	167024307	3	4	80	1	0	0	0	0	1	0	0	0	6626	536	19	1	234	1	GPA33	1	167024307	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1645496	167024307	82226314	44	1482											
FMO3	2328	broad.mit.edu	37	chr1	171086253	171086253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccaggtttggcaaaagcGagaccatacagacagattac	14	8	9	10	1	1	3	0	0	1	3	2	4	1	3	2	2	3	2	2	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:171086253G>A	ENST00000367755.4	+	9	1381	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	FMO3_ENST00000392085.2_Missense_Mutation_p.E424K|FMO3_ENST00000538429.1_Missense_Mutation_p.E361K|FMO3_ENST00000542847.1_Missense_Mutation_p.E404K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	424					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)					TGGCAAAAGCGAGACCATACA	0.438													23	14					0	0	1	0	0	A	171086253	G	A	171086253	3	1	80	1	0	0	0	0	1	0	0	0	5989	1059	37	1	1300	1	FMO3	1	171086253	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4061946	171086253	78164368	45	1483											
FMO2	2327	broad.mit.edu	37	chr1	171174750	171174750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgctgaacttcaagctcGttgggtgacaagagttttca	11	12	10	8	1	2	3	2	2	0	1	3	3	2	3	0	1	4	4	0	1	4	4	rs72549336		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:171174750G>A	ENST00000441535.1	+	7	1277	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R387H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	387					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCAAGCTCGTTGGGTGACA	0.468													15	18					0	0	1	0	0	A	171174750	G	A	171174750	3	1	80	1	0	0	0	0	1	0	0	0	5988	1145	40	1	1182	1	FMO2	1	171174750	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	88497	171174750	78075871	46	1484											
ADIPOR1	51094	broad.mit.edu	37	chr1	202920081	202920081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggttggcgattacccGtttgcccttctcttctagca	4	14	12	11	2	2	0	0	0	2	0	3	1	2	0	2	3	3	3	2	3	2	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:202920081G>A	ENST00000340990.5	-	2	416	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.R40W|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R40W	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	40					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCGATTACCCGTTTGCCCTTC	0.512													26	39					0	0	1	0	0	A	202920081	G	A	202920081	3	1	80	1	0	0	0	0	1	0	0	0	317	1144	40	1	1037	1	ADIPOR1	1	202920081	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	31745331	202920081	46330540	47	1485											
CHIT1	1118	broad.mit.edu	37	chr1	203194835	203194835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctggtagagagtctcGtcattccactcagtggtgct	8	12	10	11	1	3	1	2	0	1	1	6	2	5	1	2	2	2	2	2	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:203194835G>A	ENST00000367229.1	-	3	253	c.219C>T	c.(217-219)gaC>gaT	p.D73D	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.D73D|CHIT1_ENST00000535569.1_Silent_p.D83D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	73					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGAGAGTCTCGTCATTCCACT	0.577													7	31					0	0	1	0	0	A	203194835	G	A	203194835	2	1	80	1	0	0	0	0	0	0	0	1	3368	1136	40	1		1	CHIT1	1	203194835	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	274754	203194835	46055786	48	1486											
GOLT1A	127845	broad.mit.edu	37	chr1	204170925	204170925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgatgagggacaggccCgtcaggaacagcagctgtag	12	5	14	10	1	1	2	1	2	0	0	1	4	1	4	2	3	3	3	2	3	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:204170925C>T	ENST00000308302.3	-	3	317	c.132G>A	c.(130-132)acG>acA	p.T44T		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	44					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.T44T(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGGACAGGCCCGTCAGGAACA	0.602													3	39					0	0	1	0	0	T	204170925	C	T	204170925	2	4	80	1	0	0	0	0	0	0	0	1	6609	639	23	1		1	GOLT1A	1	204170925	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	976090	204170925	45079696	49	1487											
CNTN2	6900	broad.mit.edu	37	chr1	205036303	205036303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggactatgagttcCgggtcatagccagcaacatt	10	10	11	10	1	1	1	1	1	0	0	2	3	2	3	3	3	3	2	3	3	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:205036303C>T	ENST00000331830.4	+	16	2334	c.2050C>T	c.(2050-2052)Cgg>Tgg	p.R684W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	684	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATGAGTTCCGGGTCATAGC	0.577													6	52					0	0	1	0	0	T	205036303	C	T	205036303	3	4	80	1	0	0	0	0	1	0	0	0	3664	643	23	1	2108	1	CNTN2	1	205036303	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	865378	205036303	44214318	50	1488											
C1orf116	79098	broad.mit.edu	37	chr1	207200928	207200928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagtccccgctggccacaGctccctctcgggcatcaccc	5	6	9	21	2	2	0	1	0	1	0	5	0	4	0	6	2	1	3	6	2	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:207200928G>T	ENST00000359470.5	-	2	265	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	6						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTGGCCACAGCTCCCTCTCG	0.612													3	41					1	1	1	1	0	T	207200928	G	T	207200928	3	4	80	1	0	0	0	0	1	0	0	0	2002	962	34	5	1801	5	C1orf116	1	207200928	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2164625	207200928	42049693	51	1489											
CENPF	1063	broad.mit.edu	37	chr1	214816120	214816120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccctgtcatcctcttGtgtgcctgacagctctagtc	5	14	7	15	0	3	1	1	1	2	0	7	1	6	1	4	0	2	1	4	0	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:214816120G>A	ENST00000366955.3	+	12	4607	c.4439G>A	c.(4438-4440)tGt>tAt	p.C1480Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1576	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|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)		TCATCCTCTTGTGTGCCTGAC	0.463													17	17					0	0	1	0	0	A	214816120	G	A	214816120	3	1	80	1	0	0	0	0	1	0	0	0	3253	1377	48	3	4481	3	CENPF	1	214816120	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7615192	214816120	34434501	52	1490											
OBSCN	84033	broad.mit.edu	37	chr1	228505446	228505446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgccccagacagtgCggcttggtgagttgcttcat	6	12	11	12	1	2	2	2	1	0	1	2	2	2	2	3	2	3	3	3	2	0	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:228505446C>T	ENST00000570156.2	+	63	16788	c.16714C>T	c.(16714-16716)Cgg>Tgg	p.R5572W	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4615W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1734W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2249W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4615W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4615					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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				CCAGACAGTGCGGCTTGGTGA	0.672													24	30					0	0	1	0	0	T	228505446	C	T	228505446	3	4	80	1	0	0	0	0	1	0	0	0	10860	759	27	1	14045	1	OBSCN	1	228505446	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13689326	228505446	20745175	53	1491											
GALNT2	2590	broad.mit.edu	37	chr1	230371780	230371780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagcggaagcagtggcGggtggatctgccggccacca	7	6	17	11	3	2	0	1	0	1	0	2	2	2	2	3	5	3	1	3	5	1	0	rs151140953		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230371780G>A	ENST00000366672.4	+	4	467	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	GALNT2_ENST00000541865.1_Missense_Mutation_p.R42Q|GALNT2_ENST00000543760.1_Missense_Mutation_p.R94Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	132					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|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)				AAGCAGTGGCGGGTGGATCTG	0.577													7	17					0	0	1	0	0	A	230371780	G	A	230371780	3	1	80	1	0	0	0	0	1	0	0	0	6253	1116	39	1	409	1	GALNT2	1	230371780	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1866334	230371780	18878841	54	1492											
GALNT2	2590	broad.mit.edu	37	chr1	230391058	230391058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaagcagcacccctacacGttcccgggtggcagtggcac	8	5	13	15	3	0	0	0	0	0	0	1	1	1	1	3	4	3	5	3	4	2	2	rs75919037	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230391058G>A	ENST00000541865.1	+	9	916	c.730G>A	c.(730-732)Gtt>Att	p.V244I	GALNT2_ENST00000366672.4_Silent_p.T368T|GALNT2_ENST00000543760.1_Silent_p.T330T			Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	0					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|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)				ACCCCTACACGTTCCCGGGTG	0.587													10	37					0	0	1	0	0	A	230391058	G	A	230391058	3	1	80	1	0	0	0	0	1	0	0	0	6253	1132	40	1	1146	1	GALNT2	1	230391058	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19278	230391058	18859563	55	1493											
COG2	22796	broad.mit.edu	37	chr1	230819334	230819334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagatttagagaaatagCgggatccttagaagcagcac	14	9	10	8	1	1	3	1	0	1	3	3	5	2	4	1	1	3	2	1	1	5	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230819334C>T	ENST00000534989.1	+	11	1339	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	COG2_ENST00000535166.1_Missense_Mutation_p.A278V|COG2_ENST00000546013.1_Missense_Mutation_p.A83V|COG2_ENST00000366668.3_Missense_Mutation_p.A394V|COG2_ENST00000366669.4_Missense_Mutation_p.A394V			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	394					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGAGAAATAGCGGGATCCTTA	0.388													26	34					0	0	1	0	0	T	230819334	C	T	230819334	3	4	80	1	0	0	0	0	1	0	0	0	3681	768	27	1	1223	1	COG2	1	230819334	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	428276	230819334	18431287	56	1494											
SLC35F3	148641	broad.mit.edu	37	chr1	234367303	234367303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggggcgtggcggtcGtgctgtgcgtgtgctcctcg	0	13	17	11	5	2	0	0	0	2	0	5	0	3	0	1	4	3	2	1	4	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:234367303G>A	ENST00000366618.3	+	3	569	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	SLC35F3_ENST00000366617.3_Missense_Mutation_p.V73M	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	73					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGTGGCGGTCGTGCTGTGCGT	0.687													48	57					0	0	1	0	0	A	234367303	G	A	234367303	3	1	80	1	0	0	0	0	1	0	0	0	14645	1145	40	1	434	1	SLC35F3	1	234367303	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3547969	234367303	14883318	57	1495											
LYST	1130	broad.mit.edu	37	chr1	235827917	235827917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgaggtcactgcctccGccagctaaaacacccaaatc	12	7	7	15	1	2	1	1	1	1	0	4	1	3	1	4	1	3	1	4	1	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:235827917G>A	ENST00000389794.3	-	51	11217	c.11043C>T	c.(11041-11043)ggC>ggT	p.G3681G	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.G3681G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3681					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)			CACTGCCTCCGCCAGCTAAAA	0.567													9	30					0	0	1	0	0	A	235827917	G	A	235827917	2	1	80	1	0	0	0	0	0	0	0	1	9174	1074	38	1		1	LYST	1	235827917	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1460614	235827917	13422704	58	1496											
RYR2	6262	broad.mit.edu	37	chr1	237870347	237870347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattagccgagtccggcattCgctacactcaaatgccacat	12	9	7	13	3	1	0	1	0	0	0	3	1	2	0	3	1	3	2	3	1	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:237870347C>T	ENST00000366574.2	+	68	9996	c.9679C>T	c.(9679-9681)Cgc>Tgc	p.R3227C	RYR2_ENST00000360064.6_Missense_Mutation_p.R3225C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3211C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3227					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)			GTCCGGCATTCGCTACACTCA	0.473													30	31					0	0	1	0	0	T	237870347	C	T	237870347	3	4	80	1	0	0	0	0	1	0	0	0	13821	884	31	1	9949	1	RYR2	1	237870347	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2042430	237870347	11380274	59	1497											
GREB1	9687	broad.mit.edu	37	chr2	11774455	11774455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgtggacctgacccagaaCgtgcagtacaaccagaaccg	14	4	10	13	3	0	3	0	1	0	2	0	4	0	4	4	1	6	2	4	1	5	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657													4	6					0	0	1	0	0	T	11774455	C	T	11774455	2	4	80	1	0	0	0	0	0	0	0	1	6801	535	19	1		1	GREB1	2	11774455	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		11774455	231424918	60	1498											
EIF2AK2	5610	broad.mit.edu	37	chr2	37349797	37349797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaatgcttttacttcacGctccgccttcctagttaaaa	9	14	5	13	2	1	0	1	0	0	0	3	0	3	0	4	0	3	3	4	0	5	6	rs3953394		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:37349797G>A	ENST00000233057.4	-	12	1241	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.R266C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.R307C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	307	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	p.R307C(1)		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)				TTTACTTCACGCTCCGCCTTC	0.408													18	23					0	0	1	0	0	A	37349797	G	A	37349797	3	1	80	1	0	0	0	0	1	0	0	0	5023	1087	38	1	760	1	EIF2AK2	2	37349797	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	25575342	37349797	205849576	61	1499											
STON1	11037	broad.mit.edu	37	chr2	48809431	48809431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacatggcctcattggcGcagaggtcatcctatgctgg	8	10	12	11	1	3	1	3	0	0	1	4	1	4	1	2	4	2	2	2	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:48809431G>A	ENST00000309835.3	+	1	1669	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	STON1-GTF2A1L_ENST00000309827.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A553A|STON1_ENST00000404752.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A553A|STON1_ENST00000406226.1_Silent_p.A553A					stonin 1									p.A553A(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCATTGGCGCAGAGGTCAT	0.478													30	35					0	0	1	0	0	A	48809431	G	A	48809431	2	1	80	1	0	0	0	0	0	0	0	1	15372	1074	38	1		1	STON1	2	48809431	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11459634	48809431	194389942	62	1500											
ALMS1	7840	broad.mit.edu	37	chr2	73828485	73828485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggggcagcacctggaCggtcggggctacctggcagg	6	6	18	11	2	1	0	1	0	0	0	2	1	1	1	2	8	2	4	2	8	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					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						AGCACCTGGACGGTCGGGGCT	0.592													5	38					0	0	1	0	0	T	73828485	C	T	73828485	2	4	80	1	0	0	0	0	0	0	0	1	531	535	19	1		1	ALMS1	2	73828485	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25019054	73828485	169370888	63	1501											
DUSP11	8446	broad.mit.edu	37	chr2	74002108	74002108	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttcttcattttgttctcGgattttgttaaaaagatcca	11	18	6	6	1	3	1	1	0	2	1	5	2	4	2	1	1	0	3	1	1	4	8			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74002108G>A	ENST00000443070.1	-	3	387	c.382C>T	c.(382-384)Cga>Tga	p.R128*	DUSP11_ENST00000272444.3_Nonsense_Mutation_p.R128*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.R81*			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	p.R81*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTTGTTCTCGGATTTTGTTA	0.338													15	14					0	0	1	0	0	A	74002108	G	A	74002108	4	1	80	1	0	0	0	0	0	1	0	0	4837	1124	39	1	779	1	DUSP11	2	74002108	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	173623	74002108	169197265	64	1502											
DCTN1	1639	broad.mit.edu	37	chr2	74593736	74593736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgcagtctaggagCgtgtcagatacctgtgtgcc	6	13	12	10	1	2	1	1	0	1	1	3	2	3	2	3	1	4	2	3	1	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74593736C>T	ENST00000361874.3	-	22	2795	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409567.3_Silent_p.T806T|DCTN1_ENST00000409868.1_Silent_p.T809T|DCTN1_ENST00000409438.1_Silent_p.T692T|DCTN1_ENST00000409240.1_Silent_p.T789T|DCTN1_ENST00000394003.3_Silent_p.T819T|DCTN1_ENST00000407639.2_Silent_p.T692T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	826					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTCTAGGAGCGTGTCAGATA	0.572													52	75					0	0	1	0	0	T	74593736	C	T	74593736	2	4	80	1	0	0	0	0	0	0	0	1	4329	755	27	1		1	DCTN1	2	74593736	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	591628	74593736	168605637	65	1503											
DCTN1	1639	broad.mit.edu	37	chr2	74596484	74596484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctggtagtctgcaacCgtctcctgggctgcctccac	4	11	11	15	1	3	0	0	0	3	0	5	0	4	0	4	2	4	4	4	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74596484C>T	ENST00000361874.3	-	14	1844	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	DCTN1_ENST00000409567.3_Silent_p.T489T|DCTN1_ENST00000409868.1_Silent_p.T492T|DCTN1_ENST00000409438.1_Silent_p.T375T|DCTN1_ENST00000409240.1_Silent_p.T472T|DCTN1_ENST00000394003.3_Silent_p.T502T|DCTN1_ENST00000407639.2_Silent_p.T375T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	509					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTCTGCAACCGTCTCCTGGG	0.617													5	20					0	0	1	0	0	T	74596484	C	T	74596484	2	4	80	1	0	0	0	0	0	0	0	1	4329	639	23	1		1	DCTN1	2	74596484	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2748	74596484	168602889	66	1504											
NPAS2	4862	broad.mit.edu	37	chr2	101541694	101541694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgctccctggcaacaCgcggaaaatggacaaaacca	14	6	8	13	2	0	0	0	0	0	0	2	2	2	2	3	3	3	2	3	3	5	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:101541694C>T	ENST00000335681.5	+	3	404	c.119C>T	c.(118-120)aCg>aTg	p.T40M	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.T105M	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	40	Helix-loop-helix motif.				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						CCTGGCAACACGCGGAAAATG	0.453													3	41					0	0	1	0	0	T	101541694	C	T	101541694	3	4	80	1	0	0	0	0	1	0	0	0	10610	536	19	1	125	1	NPAS2	2	101541694	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26945210	101541694	141657679	67	1505											
BUB1	699	broad.mit.edu	37	chr2	111413371	111413371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtggaatggtgtagaCgcaagttgtgcagcagatgt	10	11	15	5	1	0	2	0	0	0	2	0	3	0	3	0	2	3	6	0	2	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:111413371C>T	ENST00000535254.1	-	15	1828	c.1761G>A	c.(1759-1761)gcG>gcA	p.A587A	BUB1_ENST00000409311.1_Silent_p.A607A|BUB1_ENST00000302759.6_Silent_p.A607A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	607					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGTGTAGACGCAAGTTGTG	0.458													10	99					0	0	1	0	0	T	111413371	C	T	111413371	2	4	80	1	0	0	0	0	0	0	0	1	1573	523	19	1		1	BUB1	2	111413371	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9871677	111413371	131786002	68	1506											
MERTK	10461	broad.mit.edu	37	chr2	112705055	112705055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtcaggctgtgggccCgcctgagcccgtcaacattt	6	9	11	15	2	2	1	2	1	0	0	2	1	2	1	4	2	2	1	4	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:112705055C>T	ENST00000295408.4	+	4	925	c.668C>T	c.(667-669)cCg>cTg	p.P223L	MERTK_ENST00000421804.2_Missense_Mutation_p.P223L|MERTK_ENST00000409780.1_Missense_Mutation_p.P47L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	223	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTGTGGGCCCGCCTGAGCCC	0.517													25	30					0	0	1	0	0	T	112705055	C	T	112705055	3	4	80	1	0	0	0	0	1	0	0	0	9529	652	23	1	682	1	MERTK	2	112705055	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1291684	112705055	130494318	69	1507											
PSD4	23550	broad.mit.edu	37	chr2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccccctcttcctggCgagtccttgctcagagaaca	9	8	8	16	1	2	1	1	0	1	1	4	3	4	1	4	1	4	2	4	1	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:113940791C>T	ENST00000441564.3	+	2	927	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_ENST00000245796.6_Missense_Mutation_p.A253V			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602													18	20					0	0	1	0	0	T	113940791	C	T	113940791	3	4	80	1	0	0	0	0	1	0	0	0	12698	768	27	1	760	1	PSD4	2	113940791	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1235736	113940791	129258582	70	1508											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204489	125204489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcaccaagggcgagaCggatgccttagacattgact	10	8	11	12	3	0	3	0	1	0	2	1	5	1	4	3	2	1	1	3	2	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:125204489C>T	ENST00000431078.1	+	6	1257	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	298	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T298M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGGCGAGACGGATGCCTTA	0.557													12	23					0	0	1	0	0	T	125204489	C	T	125204489	3	4	80	1	0	0	0	0	1	0	0	0	3673	536	19	1	915	1	CNTNAP5	2	125204489	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11263698	125204489	117994884	71	1509											
IMP4	92856	broad.mit.edu	37	chr2	131103363	131103363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccagtggggctcatcGtcagccacctgccctttggt	4	9	11	17	2	2	0	2	0	0	0	3	0	2	0	6	3	2	1	6	3	0	1	rs11542413		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:131103363G>A	ENST00000259239.3	+	6	1159	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	IMP4_ENST00000409935.1_Missense_Mutation_p.V151I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	151	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GGGGCTCATCGTCAGCCACCT	0.647													24	20					0	0	1	0	0	A	131103363	G	A	131103363	3	1	80	1	0	0	0	0	1	0	0	0	7764	1145	40	1	473	1	IMP4	2	131103363	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5898874	131103363	112096010	72	1510											
NEB	4703	broad.mit.edu	37	chr2	152348986	152348986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccttgtatttgtttcCggaaactatcagaataaaga	12	15	7	7	1	1	2	1	0	0	2	2	3	2	3	2	1	2	2	2	1	6	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:152348986C>T	ENST00000427231.2	-	177	24990	c.24788G>A	c.(24787-24789)cGg>cAg	p.R8263Q	NEB_ENST00000509223.2_Missense_Mutation_p.R176Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000172853.10_Missense_Mutation_p.R6407Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6573					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		TATTTGTTTCCGGAAACTATC	0.483													14	51					0	0	1	0	0	T	152348986	C	T	152348986	3	4	80	1	0	0	0	0	1	0	0	0	10349	652	23	1	813	1	NEB	2	152348986	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	21245623	152348986	90850387	73	1511											
SCN2A	6326	broad.mit.edu	37	chr2	166210904	166210904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttagatgaaattaaacCgcttgaagatctaaataata	18	12	6	5	1	1	4	0	2	1	2	1	4	1	4	1	0	2	2	1	0	9	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:166210904C>T	ENST00000375437.2	+	17	3412	c.3122C>T	c.(3121-3123)cCg>cTg	p.P1041L	SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041L|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1041L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1041					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)	GAAATTAAACCGCTTGAAGAT	0.338													7	35					0	0	1	0	0	T	166210904	C	T	166210904	3	4	80	1	0	0	0	0	1	0	0	0	13970	652	23	1	3280	1	SCN2A	2	166210904	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13861918	166210904	76988469	74	1512											
LRP2	4036	broad.mit.edu	37	chr2	170012798	170012798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcataccctcagctgcacatCgttttccagggcggtcactc	7	11	8	15	2	3	0	3	0	0	0	6	0	4	0	2	2	3	3	2	2	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:170012798C>T	ENST00000263816.3	-	65	12422	c.12137G>A	c.(12136-12138)cGa>cAa	p.R4046Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4046	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	AGCTGCACATCGTTTTCCAGG	0.438													7	54					0	0	1	0	0	T	170012798	C	T	170012798	3	4	80	1	0	0	0	0	1	0	0	0	9001	884	31	1	1890	1	LRP2	2	170012798	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3801894	170012798	73186575	75	1513											
LRP2	4036	broad.mit.edu	37	chr2	170060631	170060631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaatctgacctgacccGtcatatttgttagctcggta	9	14	8	10	2	2	2	1	2	1	0	3	2	2	2	2	1	2	4	2	1	4	5	rs139514301		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:170060631G>A	ENST00000263816.3	-	42	8151	c.7866C>T	c.(7864-7866)gaC>gaT	p.D2622D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2622					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	GACCTGACCCGTCATATTTGT	0.438													61	57					0	0	1	0	0	A	170060631	G	A	170060631	2	1	80	1	0	0	0	0	0	0	0	1	9001	1136	40	1		1	LRP2	2	170060631	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	47833	170060631	73138742	76	1514											
MYO3B	140469	broad.mit.edu	37	chr2	171371513	171371513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggttcaagactgcagCgagcctggtgaccataaagg	11	6	14	10	2	1	2	1	1	0	1	1	4	1	2	3	3	3	2	3	3	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:171371513C>T	ENST00000334231.6	+	29	3480	c.3480C>T	c.(3478-3480)agC>agT	p.S1160S	MYO3B_ENST00000409044.3_Silent_p.S1124S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S1151S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1151					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGACTGCAGCGAGCCTGGTG	0.507													5	24					0	0	1	0	0	T	171371513	C	T	171371513	2	4	80	1	0	0	0	0	0	0	0	1	10125	767	27	1		1	MYO3B	2	171371513	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1310882	171371513	71827860	77	1515											
SLC25A12	8604	broad.mit.edu	37	chr2	172641886	172641886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttcgatgcctgcaaaCgtggctgtggcgagtctgta	6	14	13	8	3	1	0	0	0	1	0	2	2	1	0	1	2	3	4	1	2	2	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:172641886C>T	ENST00000422440.2	-	18	1972	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	SLC25A12_ENST00000392592.4_Silent_p.T538T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	645					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|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)	TGCCTGCAAACGTGGCTGTGG	0.517													16	59					0	0	1	0	0	T	172641886	C	T	172641886	2	4	80	1	0	0	0	0	0	0	0	1	14529	523	19	1		1	SLC25A12	2	172641886	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1270373	172641886	70557487	78	1516											
DLX2	1746	broad.mit.edu	37	chr2	172965648	172965648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcttgaacttggaccGgcggttctggaaccagattt	8	13	10	10	2	3	2	0	1	3	1	3	4	3	4	2	4	2	1	2	4	2	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:172965648G>A	ENST00000234198.4	-	3	971	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACTTGGACCGGCGGTTCTGG	0.542													5	37					0	0	1	0	0	A	172965648	G	A	172965648	3	1	80	1	0	0	0	0	1	0	0	0	4599	1115	39	1	380	1	DLX2	2	172965648	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	323762	172965648	70233725	79	1517											
TTN	7273	broad.mit.edu	37	chr2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttttctagtgcttcaaCgacatagtgtacaattctgc	9	16	6	10	1	3	0	1	0	2	0	4	1	4	0	1	0	4	2	1	0	5	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179423251C>T	ENST00000589042.1	-	327	87159	c.86935G>A	c.(86935-86937)Gtt>Att	p.V28979I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 111.						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)			AGTGCTTCAACGACATAGTGT	0.428													3	19					0	0	1	0	0	T	179423251	C	T	179423251	3	4	80	1	0	0	0	0	1	0	0	0	16797	536	19	1	21188	1	TTN	2	179423251	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6457603	179423251	63776122	80	1518											
TTN	7273	broad.mit.edu	37	chr2	179431174	179431174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgttgagggcacagactCgtattttatactcttggtgt	7	17	10	7	1	1	2	0	1	1	1	2	2	1	2	0	2	1	3	0	2	3	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179431174C>T	ENST00000589042.1	-	326	79909	c.79685G>A	c.(79684-79686)cGa>cAa	p.R26562Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17689Q|TTN_ENST00000359218.5_Missense_Mutation_p.R17622Q|TTN_ENST00000591111.1_Missense_Mutation_p.R24921Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23994Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17497Q|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24921	Fibronectin type-III 93.						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)			GGCACAGACTCGTATTTTATA	0.423													27	74					0	0	1	0	0	T	179431174	C	T	179431174	3	4	80	1	0	0	0	0	1	0	0	0	16797	884	31	1	28442	1	TTN	2	179431174	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7923	179431174	63768199	81	1519											
TTN	7273	broad.mit.edu	37	chr2	179634804	179634804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactctccacaaacagttttGctttgcattccaattgcccg	9	14	5	13	1	1	0	0	0	1	0	3	0	2	0	3	0	5	3	3	0	3	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179634804G>A	ENST00000589042.1	-	36	8848	c.8624C>T	c.(8623-8625)gCa>gTa	p.A2875V	TTN_ENST00000360870.5_Missense_Mutation_p.A2875V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2829V|TTN_ENST00000359218.5_Missense_Mutation_p.A2829V|TTN_ENST00000591111.1_Missense_Mutation_p.A2875V|TTN_ENST00000342992.6_Missense_Mutation_p.A2875V|TTN_ENST00000460472.2_Missense_Mutation_p.A2829V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2613							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)			AAACAGTTTTGCTTTGCATTC	0.458													34	35					0	0	1	0	0	A	179634804	G	A	179634804	3	1	80	1	0	0	0	0	1	0	0	0	16797	1319	46	2	102672	2	TTN	2	179634804	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	203630	179634804	63564569	82	1520											
DNAH7	56171	broad.mit.edu	37	chr2	196788444	196788444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaagtgctcccagagttaCgcgattctgcatggacaatt	11	10	9	11	2	1	1	0	0	1	1	2	3	2	2	1	1	3	3	1	1	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:196788444C>T	ENST00000312428.6	-	23	3800	c.3700G>A	c.(3700-3702)Gta>Ata	p.V1234I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1234	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V1234L(1)		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						CCCAGAGTTACGCGATTCTGC	0.398													12	49					0	0	1	0	0	T	196788444	C	T	196788444	3	4	80	1	0	0	0	0	1	0	0	0	4633	536	19	1	8546	1	DNAH7	2	196788444	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17153640	196788444	46410929	83	1521											
SF3B1	23451	broad.mit.edu	37	chr2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	9	15	8	9	1	2	0	1	0	1	0	3	1	3	1	1	1	4	5	1	1	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		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)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome								18	18					0	0	1	0	0	A	198267484	G	A	198267484	3	1	80	1	0	0	0	0	1	0	0	0	14203	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1479040	198267484	44931889	84	1522											
PLCL1	5334	broad.mit.edu	37	chr2	198948757	198948757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagactggggaaaaacacGgaaacatttagaaacaatgg	19	6	10	6	1	1	2	1	0	0	2	1	4	1	4	0	4	3	0	0	4	6	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:198948757G>A	ENST00000428675.1	+	2	914	c.516G>A	c.(514-516)acG>acA	p.T172T	PLCL1_ENST00000437704.2_Silent_p.T74T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	172	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T74T(2)|p.T172T(2)		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)	GGAAAAACACGGAAACATTTA	0.463													29	32					0	0	1	0	0	A	198948757	G	A	198948757	2	1	80	1	0	0	0	0	0	0	0	1	12087	1103	39	1		1	PLCL1	2	198948757	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	681273	198948757	44250616	85	1523											
AOX1	316	broad.mit.edu	37	chr2	201478596	201478596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctcccttttgggctcGgcgccaggtgggaaagtgga	7	9	16	9	2	1	0	0	0	1	0	3	3	1	2	2	5	0	1	2	5	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	506					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD 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)	TTTTGGGCTCGGCGCCAGGTG	0.473													3	42					0	0	1	0	0	A	201478596	G	A	201478596	2	1	80	1	0	0	0	0	0	0	0	1	725	1103	39	1		1	AOX1	2	201478596	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2529839	201478596	41720777	86	1524											
PLEKHM3	389072	broad.mit.edu	37	chr2	208795810	208795810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcggctcttcgtacaCgtactccagaaactccttgg	9	10	10	12	3	1	2	0	1	1	1	4	3	3	2	2	2	4	3	2	2	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:208795810C>T	ENST00000457206.1	-	5	2153	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.V576M|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.V576M			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	576					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTCGTACACGTACTCCAGA	0.602													14	36					0	0	1	0	0	T	208795810	C	T	208795810	3	4	80	1	0	0	0	0	1	0	0	0	12130	536	19	1	575	1	PLEKHM3	2	208795810	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7317214	208795810	34403563	87	1525											
MAP2	4133	broad.mit.edu	37	chr2	210559486	210559486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaaaacggacagtcagctCgaagacctgggctactgtgt	12	8	12	9	2	1	1	1	0	0	1	2	3	1	2	1	2	3	3	1	2	5	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:210559486C>T	ENST00000360351.4	+	7	3098	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L860L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	864					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)	ACAGTCAGCTCGAAGACCTGG	0.473													4	47					0	0	1	0	0	T	210559486	C	T	210559486	2	4	80	1	0	0	0	0	0	0	0	1	9285	871	31	1		1	MAP2	2	210559486	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1763676	210559486	32639887	88	1526											
PLCD4	84812	broad.mit.edu	37	chr2	219483520	219483520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatggaccatcaggagCgcctggaccagtatcggcag	10	5	13	13	2	1	0	1	0	0	0	2	3	1	3	4	4	2	3	4	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:219483520C>T	ENST00000450993.2	+	4	739	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PLCD4_ENST00000417849.1_Missense_Mutation_p.R134C|PLCD4_ENST00000432688.1_Missense_Mutation_p.R134C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	134	EF-hand 1.				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)		CCATCAGGAGCGCCTGGACCA	0.577													6	3					0	0	1	0	0	T	219483520	C	T	219483520	3	4	80	1	0	0	0	0	1	0	0	0	12081	768	27	1	410	1	PLCD4	2	219483520	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8924034	219483520	23715853	89	1527											
STK11IP	114790	broad.mit.edu	37	chr2	220473354	220473354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggaggggcctgagggCgtacggggcagggaatgctt	6	6	19	10	2	0	1	0	1	0	0	0	3	0	3	3	7	2	3	3	7	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:220473354C>T	ENST00000456909.1	+	15	1743	c.1653C>T	c.(1651-1653)ggC>ggT	p.G551G	STK11IP_ENST00000295641.10_Silent_p.G562G			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	562	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTGAGGGCGTACGGGGCA	0.602													8	20					0	0	1	0	0	T	220473354	C	T	220473354	2	4	80	1	0	0	0	0	0	0	0	1	15344	755	27	1		1	STK11IP	2	220473354	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	989834	220473354	22726019	90	1528											
DOCK10	55619	broad.mit.edu	37	chr2	225688296	225688296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttccaaatcacatggtcGgataggaccatgacaagatt	14	11	8	8	1	1	2	1	1	0	1	3	4	2	4	2	3	0	0	2	3	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:225688296G>A	ENST00000409592.3	-	28	3200	c.3087C>T	c.(3085-3087)tcC>tcT	p.S1029S	DOCK10_ENST00000258390.7_Silent_p.S1035S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1035							GTP binding	p.S1033S(1)		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)		TCACATGGTCGGATAGGACCA	0.418													8	31					0	0	1	0	0	A	225688296	G	A	225688296	2	1	80	1	0	0	0	0	0	0	0	1	4712	1103	39	1		1	DOCK10	2	225688296	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5214942	225688296	17511077	91	1529											
HTR2B	3357	broad.mit.edu	37	chr2	231973446	231973446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagatcttactggagcGttttctgagagtttttactg	9	16	11	5	1	2	2	0	1	2	2	2	5	2	3	0	1	3	3	0	1	4	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:231973446G>A	ENST00000258400.3	-	4	1743	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	411					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|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 cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|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	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator 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)	TTACTGGAGCGTTTTCTGAGA	0.428													18	31					0	0	1	0	0	A	231973446	G	A	231973446	3	1	80	1	0	0	0	0	1	0	0	0	7486	1145	40	1	218	1	HTR2B	2	231973446	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6285150	231973446	11225927	92	1530											
NEU2	4759	broad.mit.edu	37	chr2	233897559	233897559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcgcagaggagactacGacgcacccacccaccaggtt	10	5	10	16	3	0	2	0	0	0	2	1	4	1	2	4	2	2	3	4	2	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:233897559G>A	ENST00000233840.3	+	1	178	c.178G>A	c.(178-180)Gac>Aac	p.D60N		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	60							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AGGAGACTACGACGCACCCAC	0.637													3	6					0	0	1	0	0	A	233897559	G	A	233897559	3	1	80	1	0	0	0	0	1	0	0	0	10389	1058	37	1	180	1	NEU2	2	233897559	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1924113	233897559	9301814	93	1531											
AGAP1	116987	broad.mit.edu	37	chr2	236659132	236659132	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagagggtcttccaggacGgtaaatgcgcgtggctggga	8	8	18	7	3	1	1	0	0	1	1	2	4	2	3	1	6	1	2	1	6	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:236659132G>A	ENST00000304032.8	+	6	1253	c.673G>A	c.(673-675)Gtt>Att	p.V225I	AGAP1_ENST00000409538.1_Splice_Site_p.V490I|AGAP1_ENST00000428334.2_Splice_Site_p.V64I|AGAP1_ENST00000336665.5_Splice_Site_p.V225I|AGAP1_ENST00000409457.1_Splice_Site_p.V225I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				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						CTTCCAGGACGGTAAATGCGC	0.542													15	59					0	0	1	0	0	A	236659132	G	A	236659132	5	1	80	1	0	0	0	0	0	0	1	0	365	1130	39	1	695	1	AGAP1	2	236659132	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2761573	236659132	6540241	94	1532											
AGAP1	116987	broad.mit.edu	37	chr2	237032585	237032585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagtggacgtcacggcccGagatgcccacgggaacacag	10	3	15	13	5	1	1	1	0	0	1	1	5	1	4	2	4	2	0	2	4	1	0	rs138364081		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:237032585G>A	ENST00000304032.8	+	18	2973	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	AGAP1_ENST00000409538.1_Missense_Mutation_p.R1010Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R637Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R745Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1				R -> G (in an autistic patient).		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						GTCACGGCCCGAGATGCCCAC	0.647													11	20					0	0	1	0	0	A	237032585	G	A	237032585	3	1	80	1	0	0	0	0	1	0	0	0	365	1058	37	1	2463	1	AGAP1	2	237032585	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	373453	237032585	6166788	95	1533											
RNPEPL1	57140	broad.mit.edu	37	chr2	241513964	241513964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctggagactgccttcCgcctggacgccctgcaccgg	4	7	12	18	3	0	1	0	0	0	1	1	3	1	2	7	3	3	1	7	3	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:241513964C>T	ENST00000270357.4	+	6	1107	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						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)		GACTGCCTTCCGCCTGGACGC	0.647													9	5					0	0	1	0	0	T	241513964	C	T	241513964	3	4	80	1	0	0	0	0	1	0	0	0	13562	652	23	1	528	1	RNPEPL1	2	241513964	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4481379	241513964	1685409	96	1534											
C2orf54	79919	broad.mit.edu	37	chr2	241829490	241829490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctcgtggttgacccggtCgaggatggagaggctgtcca	6	9	16	10	3	1	2	0	1	1	1	4	5	2	3	2	5	0	3	2	5	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:241829490C>T	ENST00000307486.8	-	3	477	c.379G>A	c.(379-381)Gac>Aac	p.D127N	C2orf54_ENST00000402775.2_Missense_Mutation_p.D108N|C2orf54_ENST00000388934.4_Missense_Mutation_p.D276N	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	276										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TTGACCCGGTCGAGGATGGAG	0.662													4	23					0	0	1	0	0	T	241829490	C	T	241829490	3	4	80	1	0	0	0	0	1	0	0	0	2189	884	31	1	529	1	C2orf54	2	241829490	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	315526	241829490	1369883	97	1535											
HDLBP	3069	broad.mit.edu	37	chr2	242179190	242179190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggatgacgaagtggcGgtggtgcttggggtccacca	6	9	17	9	3	1	1	0	1	1	0	2	3	2	2	2	6	2	1	2	6	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:242179190G>A	ENST00000391975.1	-	19	2664	c.2437C>T	c.(2437-2439)Cgc>Tgc	p.R813C	HDLBP_ENST00000310931.4_Missense_Mutation_p.R813C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R780C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R813C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	813	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA 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)		ACGAAGTGGCGGTGGTGCTTG	0.577													5	17					0	0	1	0	0	A	242179190	G	A	242179190	3	1	80	1	0	0	0	0	1	0	0	0	7066	1116	39	1	1409	1	HDLBP	2	242179190	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	349700	242179190	1020183	98	1536											
MTMR14	64419	broad.mit.edu	37	chr3	9743591	9743591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagtccttccggtgccatCgggggcctgctggagcaatt	5	9	13	14	2	0	0	0	0	0	0	3	1	2	1	5	4	3	2	5	4	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:9743591C>T	ENST00000296003.4	+	19	2009	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	MTMR14_ENST00000353332.5_Silent_p.I577I|MTMR14_ENST00000420925.1_Silent_p.I271I|MTMR14_ENST00000351233.5_Silent_p.I517I	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	629						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCGGTGCCATCGGGGGCCTGC	0.612													21	1					0	0	1	0	0	T	9743591	C	T	9743591	2	4	80	1	0	0	0	0	0	0	0	1	9990	874	31	1		1	MTMR14	3	9743591	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		9743591	188278839	99	1537											
TADA3	10474	broad.mit.edu	37	chr3	9831435	9831435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggggatccgtggcacgtcGatagggtcatcagtgaattc	8	11	14	8	3	2	1	2	1	0	0	5	3	3	2	1	4	0	1	1	4	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:9831435G>A	ENST00000343450.2	-	3	967	c.420C>T	c.(418-420)atC>atT	p.I140I	TADA3_ENST00000301964.2_Silent_p.I140I|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Silent_p.I140I	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	140					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGCACGTCGATAGGGTCAT	0.572													8	47					0	0	1	0	0	A	9831435	G	A	9831435	2	1	80	1	0	0	0	0	0	0	0	1	15569	1048	37	1		1	TADA3	3	9831435	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	87844	9831435	188190995	100	1538											
NUP210	23225	broad.mit.edu	37	chr3	13370329	13370329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagacatctccagagttgtCgtggaagtggacagtgaagg	12	8	15	6	1	1	3	0	1	1	2	3	6	1	5	1	3	0	1	1	3	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:13370329C>T	ENST00000254508.5	-	31	4310	c.4228G>A	c.(4228-4230)Gac>Aac	p.D1410N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1410					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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGAGTTGTCGTGGAAGTGG	0.547													22	2					0	0	1	0	0	T	13370329	C	T	13370329	3	4	80	1	0	0	0	0	1	0	0	0	10808	884	31	1	1475	1	NUP210	3	13370329	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3538894	13370329	184652101	101	1539											
SLC22A14	9389	broad.mit.edu	37	chr3	38355294	38355294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtccacttcagacacGtggtccccagcatcatggag	9	8	11	13	2	2	2	2	1	0	1	4	3	4	3	3	2	2	1	3	2	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:38355294G>A	ENST00000273173.4	+	7	1331	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	SLC22A14_ENST00000448498.1_Missense_Mutation_p.V414M	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	414						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)		CTTCAGACACGTGGTCCCCAG	0.567													38	1					0	0	1	0	0	A	38355294	G	A	38355294	3	1	80	1	0	0	0	0	1	0	0	0	14500	1145	40	1	1266	1	SLC22A14	3	38355294	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	24984965	38355294	159667136	102	1540											
CACNA1D	776	broad.mit.edu	37	chr3	53769529	53769529	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccactccttccggaacaCggtaagtccccagggtgggg	8	6	13	14	2	0	0	0	0	0	0	3	1	3	1	5	5	2	1	5	5	2	2	rs145327253		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:53769529C>T	ENST00000288139.4	+	21	2928	c.2810C>T	c.(2809-2811)aCg>aTg	p.T937M	CACNA1D_ENST00000422281.2_Splice_Site_p.T917M|CACNA1D_ENST00000350061.5_Splice_Site_p.T917M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	TTCCGGAACACGGTAAGTCCC	0.622													8	1					0	0	1	0	0	T	53769529	C	T	53769529	5	4	80	1	0	0	0	0	0	0	1	0	2559	550	19	1	3000	1	CACNA1D	3	53769529	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15414235	53769529	144252901	103	1541											
IL17RD	54756	broad.mit.edu	37	chr3	57131830	57131830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctaccgtcaagggcaggcCgggcctccccgtcttggtcc	4	7	13	17	4	2	0	1	0	1	0	4	0	4	0	6	4	1	2	6	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:57131830C>T	ENST00000296318.7	-	12	1989	c.1901G>A	c.(1900-1902)cGg>cAg	p.R634Q	IL17RD_ENST00000320057.5_Missense_Mutation_p.R490Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R490Q|IL17RD_ENST00000427856.2_Missense_Mutation_p.R610Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	634						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGGGCAGGCCGGGCCTCCCC	0.667													6	3					0	0	1	0	0	T	57131830	C	T	57131830	3	4	80	1	0	0	0	0	1	0	0	0	7686	652	23	1	326	1	IL17RD	3	57131830	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3362301	57131830	140890600	104	1542											
ROBO1	6091	broad.mit.edu	37	chr3	78700895	78700895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataccttttctgataccCgcgtaggtactagtaagtcc	10	13	7	11	2	1	1	0	1	1	0	2	1	2	1	3	1	3	3	3	1	7	9			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:78700895C>T	ENST00000436010.2	-	17	3679	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	ROBO1_ENST00000464233.1_Silent_p.A933A|ROBO1_ENST00000495273.1_Silent_p.A897A|ROBO1_ENST00000467549.1_Silent_p.A897A			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	933					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTGATACCCGCGTAGGTAC	0.373													9	0					0	0	1	0	0	T	78700895	C	T	78700895	2	4	80	1	0	0	0	0	0	0	0	1	13565	639	23	1		1	ROBO1	3	78700895	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	21569065	78700895	119321535	105	1543											
ADCY5	111	broad.mit.edu	37	chr3	123049783	123049783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacacagcagtgggcGtggtcagcccttgcttcagg	7	9	12	13	1	3	0	2	0	1	0	4	0	3	0	2	3	3	2	2	3	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:123049783G>A	ENST00000462833.1	-	5	2811	c.1599C>T	c.(1597-1599)caC>caT	p.H533H	ADCY5_ENST00000491190.1_Silent_p.H166H|ADCY5_ENST00000309879.5_Silent_p.H183H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	533	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCAGTGGGCGTGGTCAGCCC	0.542													14	1					0	0	1	0	0	A	123049783	G	A	123049783	2	1	80	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY5	3	123049783	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	44348888	123049783	74972647	106	1544											
SLITRK3	22865	broad.mit.edu	37	chr3	164906265	164906265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcctcacccattcccGgtggttgtgtccctggaccc	5	9	12	15	1	1	1	1	0	0	1	3	3	3	2	5	4	1	1	5	4	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:164906265G>A	ENST00000475390.1	-	2	2797	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	785						integral to membrane		p.P785L(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						ACCCATTCCCGGTGGTTGTGT	0.552										HNSCC(40;0.11)			16	23					0	0	1	0	0	A	164906265	G	A	164906265	3	1	80	1	0	0	0	0	1	0	0	0	14798	1116	39	1	583	1	SLITRK3	3	164906265	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	41856482	164906265	33116165	107	1545											
MUC4	4585	broad.mit.edu	37	chr3	195474130	195474130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggaccacgaacgtccCgacccccagcagcaagaggc	11	1	12	17	4	0	1	0	0	0	1	1	4	1	2	4	2	3	3	4	2	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:195474130C>T	ENST00000463781.3	-	25	16615	c.16156G>A	c.(16156-16158)Ggg>Agg	p.G5386R	MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000346145.4_Missense_Mutation_p.G1150R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2143					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGAACGTCCCGACCCCCAGC	0.637													10	31					0	0	1	0	0	T	195474130	C	T	195474130	3	4	80	1	0	0	0	0	1	0	0	0	10026	652	23	1	86	1	MUC4	3	195474130	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30567865	195474130	2548300	108	1546											
PDE6B	5158	broad.mit.edu	37	chr4	647752	647752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgcgagcggtactccGtgggcctcctggacatgacc	7	8	12	14	3	1	1	1	1	0	0	3	3	3	2	4	3	4	1	4	3	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:647752G>A	ENST00000255622.6	+	4	866	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	PDE6B_ENST00000429163.2_5'UTR|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.V275M|RP11-1191J2.2_ENST00000468356.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	275	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCGGTACTCCGTGGGCCTCCT	0.647													6	20					0	0	1	0	0	A	647752	G	A	647752	3	1	80	1	0	0	0	0	1	0	0	0	11693	1145	40	1	837	1	PDE6B	4	647752	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		647752	190506524	109	1547											
DGKQ	1609	broad.mit.edu	37	chr4	955350	955350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtcggagccccacaggtCggcccccgagccccagctgc	5	4	13	19	3	0	0	0	0	0	0	2	2	0	1	6	3	4	2	6	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:955350C>T	ENST00000273814.3	-	21	2552	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	827					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	activating transcription factor binding|ATP 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)			CCCCACAGGTCGGCCCCCGAG	0.692													7	2					0	0	1	0	0	T	955350	C	T	955350	3	4	80	1	0	0	0	0	1	0	0	0	4501	884	31	1	361	1	DGKQ	4	955350	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	307598	955350	190198926	110	1548											
DGKQ	1609	broad.mit.edu	37	chr4	955530	955530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagctccacctcctgcCgctccacctgcagccggatc	5	7	10	19	2	0	0	0	0	0	0	4	1	3	1	7	2	4	4	7	2	0	0	rs143203696	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:955530C>T	ENST00000273814.3	-	20	2481	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	803					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	activating transcription factor binding|ATP 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)			CACCTCCTGCCGCTCCACCTG	0.647													9	19					0	0	1	0	0	T	955530	C	T	955530	3	4	80	1	0	0	0	0	1	0	0	0	4501	652	23	1	436	1	DGKQ	4	955530	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	180	955530	190198746	111	1549											
TNIP2	79155	broad.mit.edu	37	chr4	2746454	2746454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatctgcacccgctccaaCgcagcatcccgggccgtcct	7	6	9	19	4	1	0	0	0	1	0	4	0	4	0	5	1	4	5	5	1	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:2746454C>T	ENST00000510267.1	-	4	982	c.555G>A	c.(553-555)gcG>gcA	p.A185A	TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Silent_p.A292A|TNIP2_ENST00000505186.1_5'UTR	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	292						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)		CCCGCTCCAACGCAGCATCCC	0.612													12	33					0	0	1	0	0	T	2746454	C	T	2746454	2	4	80	1	0	0	0	0	0	0	0	1	16375	523	19	1		1	TNIP2	4	2746454	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1790924	2746454	188407822	112	1550											
HTT	3064	broad.mit.edu	37	chr4	3123053	3123053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagaacgcctccaccCgagcttctgcaaaccctgac	9	8	6	18	2	3	2	1	1	2	1	4	3	4	2	4	0	4	2	4	0	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:3123053C>T	ENST00000355072.5	+	9	1312	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	389					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGCCTCCACCCGAGCTTCTGC	0.567													17	17					0	0	1	0	0	T	3123053	C	T	3123053	2	4	80	1	0	0	0	0	0	0	0	1	7501	639	23	1		1	HTT	4	3123053	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	376599	3123053	188031223	113	1551											
ATP10D	57205	broad.mit.edu	37	chr4	47538910	47538910	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagaataagatggtttttCgaagatgtagtgtggcagga	12	12	14	3	1	0	3	0	1	0	3	1	6	0	4	0	3	0	3	0	3	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:47538910C>T	ENST00000273859.3	+	9	1620	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	451					ATP biosynthetic process|cation transport	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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGGTTTTTCGAAGATGTAG	0.443													3	34					0	0	1	0	0	T	47538910	C	T	47538910	4	4	80	1	0	0	0	0	0	1	0	0	1117	876	31	1	1381	1	ATP10D	4	47538910	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	44415857	47538910	143615366	114	1552											
PDGFRA	5156	broad.mit.edu	37	chr4	55146591	55146591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggtttctaaatattcCgacatccagagatcactcta	15	11	6	9	1	3	2	1	0	2	2	5	4	5	2	2	1	0	1	2	1	5	5	rs149659832		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:55146591C>T	ENST00000257290.5	+	16	2596	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	FIP1L1_ENST00000507166.1_Silent_p.S515S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	755	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAAATATTCCGACATCCAGA	0.398			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			23	30					0	0	1	0	0	T	55146591	C	T	55146591	2	4	80	1	0	0	0	0	0	0	0	1	11708	639	23	1		1	PDGFRA	4	55146591	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7607681	55146591	136007685	115	1553											
CSN1S1	0	broad.mit.edu	37	chr4	70810661	70810661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctttcccaccgttttccGacatctccaatcccactgct	6	14	3	18	2	1	0	0	0	1	0	6	1	5	0	6	0	1	2	6	0	1	4	rs149927680	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:70810661G>A	ENST00000246891.4	+	15	545	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CSN1S1_ENST00000444405.3_Missense_Mutation_p.D157N|CSN1S1_ENST00000505782.1_Missense_Mutation_p.D150N|CSN1S1_ENST00000507772.1_Missense_Mutation_p.D158N|CSN1S1_ENST00000507763.1_Missense_Mutation_p.D157N	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	166						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ACCGTTTTCCGACATCTCCAA	0.418													22	67					0	0	1	0	0	A	70810661	G	A	70810661	3	1	80	1	0	0	0	0	1	0	0	0	3972	1058	37	1	550	1	CSN1S1	4	70810661	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15664070	70810661	120343615	116	1554											
FRAS1	80144	broad.mit.edu	37	chr4	79334177	79334177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccacatgttcaacatcGcgatcttaccacagacacct	13	8	6	14	2	2	2	1	0	1	2	3	3	2	2	3	0	3	1	3	0	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:79334177G>A	ENST00000264895.6	+	32	4803	c.4363G>A	c.(4363-4365)Gcg>Acg	p.A1455T	FRAS1_ENST00000325942.6_Missense_Mutation_p.A1455T	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1454					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						GTTCAACATCGCGATCTTACC	0.512													6	9					0	0	1	0	0	A	79334177	G	A	79334177	3	1	80	1	0	0	0	0	1	0	0	0	6076	1087	38	1	4489	1	FRAS1	4	79334177	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8523516	79334177	111820099	117	1555											
SMARCAD1	56916	broad.mit.edu	37	chr4	95198183	95198183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcacaggcaaataaccGtttgctgctcacaggcacac	12	9	7	13	1	3	0	3	0	0	0	3	0	3	0	1	2	3	5	1	2	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:95198183G>A	ENST00000354268.4	+	16	2028	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R222H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R652H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	652	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.R652L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAAATAACCGTTTGCTGCTC	0.413													5	90					0	0	1	0	0	A	95198183	G	A	95198183	3	1	80	1	0	0	0	0	1	0	0	0	14826	1145	40	1	2013	1	SMARCAD1	4	95198183	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15864006	95198183	95956093	118	1556											
UNC5C	8633	broad.mit.edu	37	chr4	96163728	96163728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaccacttgctccatggCgtccacctgccatccactgc	7	9	8	17	1	0	1	0	0	0	1	3	1	3	1	6	1	3	2	6	1	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:96163728C>T	ENST00000453304.1	-	7	1308	c.960G>A	c.(958-960)acG>acA	p.T320T	UNC5C_ENST00000506749.1_Silent_p.T320T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	320	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCTCCATGGCGTCCACCTGC	0.567													7	11					0	0	1	0	0	T	96163728	C	T	96163728	2	4	80	1	0	0	0	0	0	0	0	1	17053	755	27	1		1	UNC5C	4	96163728	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	965545	96163728	94990548	119	1557											
EGF	1950	broad.mit.edu	37	chr4	110882146	110882146	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggaaacgatgtcatcGtaagttatagcaacaagtat	15	11	10	5	2	1	1	1	1	0	0	2	3	1	2	0	1	3	4	0	1	7	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:110882146G>A	ENST00000265171.5	+	7	1634		c.e7+1		EGF_ENST00000503392.1_Splice_Site|EGF_ENST00000509793.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CGATGTCATCGTAAGTTATAG	0.403													8	73					0	0	1	0	0	A	110882146	G	A	110882146	5	1	80	1	0	0	0	0	0	0	1	0	4988	1159	40	1	1216	1	EGF	4	110882146	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14718418	110882146	80272130	120	1558											
C4orf32	132720	broad.mit.edu	37	chr4	113107979	113107979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggatgtattttggagaacGaatagtggaaccagtaatag	16	10	12	3	1	0	1	0	0	0	1	0	5	0	3	1	3	2	2	1	3	8	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:113107979G>A	ENST00000309733.5	+	2	468	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32							integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTGGAGAACGAATAGTGGAA	0.413													26	113					0	0	1	0	0	A	113107979	G	A	113107979	3	1	80	1	0	0	0	0	1	0	0	0	2277	1058	37	1	290	1	C4orf32	4	113107979	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2225833	113107979	78046297	121	1559											
ANKRD50	57182	broad.mit.edu	37	chr4	125592546	125592546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacgccagcataaagtagtGcagaaactacctcagtatgg	14	9	9	9	1	1	1	1	0	0	1	1	1	1	1	2	1	5	4	2	1	7	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:125592546G>A	ENST00000504087.1	-	4	2923	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A450V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	629										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATAAAGTAGTGCAGAAACTAC	0.453													30	49					0	0	1	0	0	A	125592546	G	A	125592546	3	1	80	1	0	0	0	0	1	0	0	0	671	1319	46	2	2407	2	ANKRD50	4	125592546	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12484567	125592546	65561730	122	1560											
ELMOD2	255520	broad.mit.edu	37	chr4	141461345	141461345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaatcttctaatgcccacGaagaagttaaacgctagaat	15	10	8	8	2	2	2	0	0	2	2	2	4	2	3	1	1	2	2	1	1	8	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368													4	36					0	0	1	0	0	A	141461345	G	A	141461345	2	1	80	1	0	0	0	0	0	0	0	1	5097	1045	37	1		1	ELMOD2	4	141461345	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15868799	141461345	49692931	123	1561											
OTUD4	54726	broad.mit.edu	37	chr4	146058662	146058662	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcgccctctgacatttcGatggtactgataaccttcat	8	14	8	11	2	2	2	1	2	1	0	4	3	2	2	2	2	2	1	2	2	2	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:146058662G>A	ENST00000454497.2	-	21	3207	c.3070C>T	c.(3070-3072)Cga>Tga	p.R1024*	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.R1089*	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1088							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGACATTTCGATGGTACTGA	0.502													21	92					0	0	1	0	0	A	146058662	G	A	146058662	4	1	80	1	0	0	0	0	0	1	0	0	11361	1066	37	1	83	1	OTUD4	4	146058662	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4597317	146058662	45095614	124	1562											
FBXW7	0	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	14	7	8	12	2	2	2	0	0	2	2	3	3	2	2	2	1	4	2	2	1	5	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								6	29					0	0	1	0	0	T	153247366	C	T	153247366	3	4	80	1	0	0	0	0	1	0	0	0	5802	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7188704	153247366	37906910	125	1563											
LRP2BP	55805	broad.mit.edu	37	chr4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcttcctcatttgatcGtttaacaccttttccttcat	7	19	3	12	1	3	1	3	1	0	0	6	1	5	1	3	0	2	2	3	0	1	8			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:186295495G>A	ENST00000362004.3	-	4	1268	c.457C>T	c.(457-459)Cga>Tga	p.R153*	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						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)		TCATTTGATCGTTTAACACCT	0.388													25	36					0	0	1	0	0	A	186295495	G	A	186295495	4	1	80	1	0	0	0	0	0	1	0	0	9002	1153	40	1	612	1	LRP2BP	4	186295495	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	33048129	186295495	4858781	126	1564											
SLC9A3	6550	broad.mit.edu	37	chr5	476456	476456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtttctcgtcctccGtgggcgtgagctcgtgtcgg	1	13	15	12	5	1	1	0	1	1	0	7	1	4	1	3	3	1	2	3	3	0	1	rs150973602		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:476456G>A	ENST00000264938.3	-	13	1937	c.1928C>T	c.(1927-1929)aCg>aTg	p.T643M	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T634M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	643	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTCGTCCTCCGTGGGCGTGAG	0.612													37	48					0	0	1	0	0	A	476456	G	A	476456	3	1	80	1	0	0	0	0	1	0	0	0	14768	1145	40	1	596	1	SLC9A3	5	476456	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		476456	180438804	127	1565											
LPCAT1	79888	broad.mit.edu	37	chr5	1501684	1501684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcggcaaccaggagcCggaccgggaagagcgtcagt	10	3	17	11	4	1	1	1	0	0	1	1	4	1	4	3	5	4	2	3	5	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:1501684C>T	ENST00000283415.3	-	2	302	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	57					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AACCAGGAGCCGGACCGGGAA	0.662													10	22					0	0	1	0	0	T	1501684	C	T	1501684	3	4	80	1	0	0	0	0	1	0	0	0	8955	652	23	1	1486	1	LPCAT1	5	1501684	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1025228	1501684	179413576	128	1566											
TRIO	7204	broad.mit.edu	37	chr5	14508349	14508349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggaccccgccaagCgtccctcggctgcgctggcc	5	5	14	17	4	0	0	0	0	0	0	2	2	1	2	5	4	3	3	5	4	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:14508349C>T	ENST00000344204.4	+	57	9136	c.9112C>T	c.(9112-9114)Cgt>Tgt	p.R3038C	TRIO_ENST00000537187.1_Missense_Mutation_p.R2862C|TRIO_ENST00000344135.5_Missense_Mutation_p.R537C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3038	Protein kinase.				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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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)					CCCCGCCAAGCGTCCCTCGGC	0.602													5	33					0	0	1	0	0	T	14508349	C	T	14508349	3	4	80	1	0	0	0	0	1	0	0	0	16613	768	27	1	9338	1	TRIO	5	14508349	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13006665	14508349	166406911	129	1567											
CDH18	1016	broad.mit.edu	37	chr5	19721471	19721471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacctgttttagggtcgaCggagaagtagggttgtcctt	8	13	13	7	2	0	1	0	0	0	1	2	3	1	1	2	3	1	3	2	3	4	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:19721471C>T	ENST00000507958.1	-	7	1618	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	CDH18_ENST00000506372.1_Missense_Mutation_p.V210I|CDH18_ENST00000511273.1_Missense_Mutation_p.V210I|CDH18_ENST00000502796.1_Missense_Mutation_p.V210I|CDH18_ENST00000382275.1_Missense_Mutation_p.V210I|CDH18_ENST00000274170.4_Missense_Mutation_p.V210I			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V210I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGGGTCGACGGAGAAGTAG	0.448													9	85					0	0	1	0	0	T	19721471	C	T	19721471	3	4	80	1	0	0	0	0	1	0	0	0	3125	536	19	1	1780	1	CDH18	5	19721471	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5213122	19721471	161193789	130	1568											
PDZD2	23037	broad.mit.edu	37	chr5	32090677	32090677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattgggaggcggtcttccGgcagcattgtttccgggagc	5	10	15	11	3	1	0	0	0	1	0	3	2	3	2	3	5	2	3	3	5	0	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:32090677G>A	ENST00000438447.1	+	20	7511	c.7123G>A	c.(7123-7125)Ggc>Agc	p.G2375S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2375S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2375					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						GCGGTCTTCCGGCAGCATTGT	0.597													6	34					0	0	1	0	0	A	32090677	G	A	32090677	3	1	80	1	0	0	0	0	1	0	0	0	11748	1116	39	1	7197	1	PDZD2	5	32090677	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12369206	32090677	148824583	131	1569											
RANBP3L	202151	broad.mit.edu	37	chr5	36257584	36257584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaagttgacaggaaatttCggaatggatttgaatggttt	15	13	11	2	1	0	2	0	2	0	0	1	5	0	5	0	4	0	2	0	4	5	4	rs138358489	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:36257584C>T	ENST00000296604.3	-	9	1229	c.744G>A	c.(742-744)ccG>ccA	p.P248P	RANBP3L_ENST00000502994.1_Silent_p.P273P|RANBP3L_ENST00000515759.1_Silent_p.P248P	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	248					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CAGGAAATTTCGGAATGGATT	0.318													11	15					0	0	1	0	0	T	36257584	C	T	36257584	2	4	80	1	0	0	0	0	0	0	0	1	13082	871	31	1		1	RANBP3L	5	36257584	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4166907	36257584	144657676	132	1570											
ITGA2	3673	broad.mit.edu	37	chr5	52358678	52358678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagacaccattacagaCgtgctcttggtaggtgcacc	12	9	10	10	1	1	2	0	0	1	2	1	3	1	2	2	2	3	3	2	2	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:52358678C>T	ENST00000296585.5	+	13	1664	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	507					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			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)				CCATTACAGACGTGCTCTTGG	0.368													29	26					0	0	1	0	0	T	52358678	C	T	52358678	2	4	80	1	0	0	0	0	0	0	0	1	7919	535	19	1		1	ITGA2	5	52358678	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	16101094	52358678	128556582	133	1571											
CDC20B	166979	broad.mit.edu	37	chr5	54420729	54420729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtccatcactgcagcCgctggaaagcagcctgccat	10	6	10	15	1	1	0	1	0	0	0	2	1	2	1	4	1	6	4	4	1	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:54420729C>T	ENST00000296733.1	-	9	1291	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	CDC20B_ENST00000381375.2_Missense_Mutation_p.G373S|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S|CDC20B_ENST00000334206.5_3'UTR	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	373										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCACTGCAGCCGCTGGAAAGC	0.567													9	65					0	0	1	0	0	T	54420729	C	T	54420729	3	4	80	1	0	0	0	0	1	0	0	0	3082	652	23	1	458	1	CDC20B	5	54420729	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2062051	54420729	126494531	134	1572											
GAPT	202309	broad.mit.edu	37	chr5	57790685	57790685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaagctaaaggaaaaaccGataaggaactatatgaaaac	22	5	7	7	1	0	1	0	1	0	0	0	4	0	3	2	2	4	1	2	2	11	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:57790685G>A	ENST00000396776.2	+	3	784	c.322G>A	c.(322-324)Gat>Aat	p.D108N	GAPT_ENST00000318469.2_Missense_Mutation_p.D108N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	108					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGGAAAAACCGATAAGGAACT	0.418													3	51					0	0	1	0	0	A	57790685	G	A	57790685	3	1	80	1	0	0	0	0	1	0	0	0	6278	1058	37	1	324	1	GAPT	5	57790685	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3369956	57790685	123124575	135	1573											
ZNF366	0	broad.mit.edu	37	chr5	71740098	71740098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggctgtctgtgccagggCgattctcccccttcccagac	5	9	10	17	2	2	1	0	0	2	1	4	2	3	1	5	2	1	1	5	2	0	2	rs148129425	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:71740098C>T	ENST00000318442.5	-	5	2210	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGTGCCAGGGCGATTCTCCCC	0.602													5	28					0	0	1	0	0	T	71740098	C	T	71740098	3	4	80	1	0	0	0	0	1	0	0	0	17927	768	27	1	518	1	ZNF366	5	71740098	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13949413	71740098	109175162	136	1574											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81608483	81608483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagttggtttagtttgcGccgagtcgagatcatttcca	8	13	11	9	3	1	2	1	0	0	2	3	4	2	2	3	1	1	3	3	1	1	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:81608483G>A	ENST00000380167.4	+	9	1510	c.185G>A	c.(184-186)cGc>cAc	p.R62H	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R62H|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	62					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTTAGTTTGCGCCGAGTCGAG	0.438											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	92					0	0	1	0	0	A	81608483	G	A	81608483	3	1	80	1	0	0	0	0	1	0	0	0	1164	1087	38	1	195	1	ATP6AP1L	5	81608483	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9868385	81608483	99306777	137	1575											
TTC37	9652	broad.mit.edu	37	chr5	94858978	94858978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagccaggcccattttgccGttccagcacttgccttttga	7	13	8	13	1	0	1	0	1	0	0	1	1	1	1	5	1	4	2	5	1	1	7	rs143193581	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:94858978G>A	ENST00000358746.2	-	18	1983	c.1685C>T	c.(1684-1686)aCg>aTg	p.T562M		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	562							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCATTTTGCCGTTCCAGCACT	0.358													70	87					0	0	1	0	0	A	94858978	G	A	94858978	3	1	80	1	0	0	0	0	1	0	0	0	16767	1145	40	1	3113	1	TTC37	5	94858978	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13250495	94858978	86056282	138	1576											
ERAP2	64167	broad.mit.edu	37	chr5	96219534	96219534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgagccaacccaggcacGcatggctttcccttgctttg	6	13	9	13	1	0	1	0	1	0	0	1	1	1	1	3	2	3	4	3	2	1	5	rs73150323	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:96219534G>A	ENST00000437043.3	+	3	1325	c.614G>A	c.(613-615)cGc>cAc	p.R205H	ERAP2_ENST00000510309.1_Missense_Mutation_p.R205H|ERAP2_ENST00000379904.4_Missense_Mutation_p.R205H|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	205					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)		ACCCAGGCACGCATGGCTTTC	0.438													17	34					0	0	1	0	0	A	96219534	G	A	96219534	3	1	80	1	0	0	0	0	1	0	0	0	5232	1087	38	1	620	1	ERAP2	5	96219534	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1360556	96219534	84695726	139	1577											
SLC27A6	28965	broad.mit.edu	37	chr5	128363005	128363005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctttatttttgggacCgtactggagacactttcagg	8	16	9	8	1	1	1	1	0	0	1	2	3	2	2	2	3	1	1	2	3	2	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:128363005C>T	ENST00000262462.4	+	7	2445	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R479C|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R479C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	479					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTTTGGGACCGTACTGGAGA	0.373													5	38					0	0	1	0	0	T	128363005	C	T	128363005	3	4	80	1	0	0	0	0	1	0	0	0	14585	652	23	1	1461	1	SLC27A6	5	128363005	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32143471	128363005	52552255	140	1578											
SHROOM1	134549	broad.mit.edu	37	chr5	132158676	132158676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgcccgccagcagggCgcaatagacgcgcagctcct	7	5	13	16	4	0	1	0	0	0	1	1	1	1	1	4	2	3	4	4	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:132158676C>T	ENST00000378679.3	-	10	3175	c.2371G>A	c.(2371-2373)Gcc>Acc	p.A791T	SHROOM1_ENST00000378676.1_Missense_Mutation_p.A722T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A786T	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	791	ASD2.				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)			GCCAGCAGGGCGCAATAGACG	0.701													8	12					0	0	1	0	0	T	132158676	C	T	132158676	3	4	80	1	0	0	0	0	1	0	0	0	14348	768	27	1	191	1	SHROOM1	5	132158676	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3795671	132158676	48756584	141	1579											
PCDHA6	0	broad.mit.edu	37	chr5	140209242	140209242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGctggaccacgaggagctaga	10	5	15	11	4	0	1	0	0	0	1	0	4	0	3	2	3	4	5	2	3	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140209242G>A	ENST00000529310.1	+	1	1680	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682													4	130					0	0	1	0	0	A	140209242	G	A	140209242	2	1	80	1	0	0	0	0	0	0	0	1	11575	1074	38	1		1	PCDHA6	5	140209242	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8050566	140209242	40706018	142	1580											
PCDHA10	0	broad.mit.edu	37	chr5	140237880	140237880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagctggtcttactcGcagcagaggcggcagagggt	7	7	19	8	2	1	2	0	0	1	2	2	3	1	3	0	6	3	4	0	6	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140237880G>A	ENST00000307360.5	+	1	2247	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672													9	8					0	0	1	0	0	A	140237880	G	A	140237880	2	1	80	1	0	0	0	0	0	0	0	1	11567	1074	38	1		1	PCDHA10	5	140237880	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	28638	140237880	40677380	143	1581											
PCDHB7	0	broad.mit.edu	37	chr5	140554409	140554409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgtgctcctggtggacGgcttctcccagccctacctg	4	10	11	16	2	1	0	0	0	1	0	3	1	2	1	4	3	4	3	4	3	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140554409G>A	ENST00000231137.3	+	1	2167	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		665	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CCTGGTGGACGGCTTCTCCCA	0.701													33	111					0	0	1	0	0	A	140554409	G	A	140554409	3	1	80	1	0	0	0	0	1	0	0	0	11594	1116	39	1	1995	1	PCDHB7	5	140554409	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	316529	140554409	40360851	144	1582											
PCDHGA6	0	broad.mit.edu	37	chr5	140754748	140754748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctccaggaacagtaatCgccctttttcaagtgttcga	10	11	8	12	2	1	0	1	0	0	0	4	2	2	1	3	1	1	3	3	1	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140754748C>T	ENST00000517434.1	+	1	1098	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTAATCGCCCTTTTTC	0.433													4	53					0	0	1	0	0	T	140754748	C	T	140754748	2	4	80	1	0	0	0	0	0	0	0	1	11605	874	31	1		1	PCDHGA6	5	140754748	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	200339	140754748	40160512	145	1583											
RBM22	55696	broad.mit.edu	37	chr5	150075212	150075212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcattgattccgtaataaCggtctttaatattctgatca	12	16	6	7	2	4	2	2	2	2	0	5	3	5	2	1	1	1	1	1	1	4	8			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:150075212C>T	ENST00000199814.4	-	7	723	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RBM22_ENST00000540000.1_Missense_Mutation_p.R152H|RBM22_ENST00000447771.2_Missense_Mutation_p.R152H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	201					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	p.R201H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGTAATAACGGTCTTTAAT	0.433													39	65					0	0	1	0	0	T	150075212	C	T	150075212	3	4	80	1	0	0	0	0	1	0	0	0	13174	536	19	1	680	1	RBM22	5	150075212	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9320464	150075212	30840048	146	1584											
FAT2	2196	broad.mit.edu	37	chr5	150891882	150891882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcctcttcgttgaccaCgacagcatccaggcagcctt	9	9	9	14	2	1	2	0	1	1	1	3	3	2	2	4	1	3	3	4	1	1	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:150891882C>T	ENST00000261800.5	-	20	11761	c.11749G>A	c.(11749-11751)Gtg>Atg	p.V3917M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3917	Laminin G-like.				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)			TCGTTGACCACGACAGCATCC	0.592													4	30					0	0	1	0	0	T	150891882	C	T	150891882	3	4	80	1	0	0	0	0	1	0	0	0	5723	536	19	1	1316	1	FAT2	5	150891882	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	816670	150891882	30023378	147	1585											
GRIA1	0	broad.mit.edu	37	chr5	153078528	153078528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagagattgccaagcaCgtgggctactcctaccgtct	8	8	12	13	3	1	1	0	0	1	1	2	2	2	1	3	2	4	3	3	2	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:153078528C>T	ENST00000285900.5	+	10	1690	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GRIA1_ENST00000340592.5_Silent_p.H449H|GRIA1_ENST00000448073.4_Silent_p.H459H|GRIA1_ENST00000518783.1_Silent_p.H459H|GRIA1_ENST00000521843.2_Silent_p.H380H|GRIA1_ENST00000518142.1_Silent_p.H369H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	449					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	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			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)	TTGCCAAGCACGTGGGCTACT	0.537													3	53					0	0	1	0	0	T	153078528	C	T	153078528	2	4	80	1	0	0	0	0	0	0	0	1	6808	535	19	1		1	GRIA1	5	153078528	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2186646	153078528	27836732	148	1586											
LARP1	23367	broad.mit.edu	37	chr5	154173236	154173236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcttcacgccccactcGcccaccggagcctagacaca	9	5	8	19	3	1	1	1	0	0	1	2	2	1	2	5	2	1	1	5	2	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:154173236G>A	ENST00000336314.4	+	5	614	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	274							protein binding|RNA 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)			CGCCCCACTCGCCCACCGGAG	0.547													42	43					0	0	1	0	0	A	154173236	G	A	154173236	3	1	80	1	0	0	0	0	1	0	0	0	8667	1087	38	1	608	1	LARP1	5	154173236	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1094708	154173236	26742024	149	1587											
KIF4B	285643	broad.mit.edu	37	chr5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaggatgctg	13	8	13	7	2	1	2	1	1	0	1	1	3	1	3	1	2	4	3	1	2	4	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(2)		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)			CAGTTAATGCGTCAAATGAAA	0.408													7	91					0	0	1	0	0	A	154395374	G	A	154395374	3	1	80	1	0	0	0	0	1	0	0	0	8346	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	222138	154395374	26519886	150	1588											
FGFR4	2264	broad.mit.edu	37	chr5	176520431	176520431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagtcaggctcttccGgcaagtcaagctcatccctg	7	9	10	15	1	4	0	3	0	1	0	6	1	6	1	3	3	1	3	3	3	2	1	rs55879131	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176520431G>A	ENST00000292408.4	+	10	1521	c.1276G>A	c.(1276-1278)Ggc>Agc	p.G426S	FGFR4_ENST00000393637.1_Missense_Mutation_p.G386S|FGFR4_ENST00000502906.1_Missense_Mutation_p.G426S|FGFR4_ENST00000292410.3_Missense_Mutation_p.G386S|FGFR4_ENST00000393648.2_Silent_p.P374P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	426			G -> S (in dbSNP:rs55879131).		insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	AGGCTCTTCCGGCAAGTCAAG	0.617										TSP Lung(9;0.080)			15	47					0	0	1	0	0	A	176520431	G	A	176520431	3	1	80	1	0	0	0	0	1	0	0	0	5901	1116	39	1	1380	1	FGFR4	5	176520431	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22125057	176520431	4394829	151	1589											
NSD1	64324	broad.mit.edu	37	chr5	176637574	176637574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcctggaaccgagaCgtctcaggttaatctctctg	9	10	11	11	2	3	2	1	0	3	2	5	4	3	3	2	2	3	2	2	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176637574C>T	ENST00000439151.2	+	5	2219	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	NSD1_ENST00000354179.4_Missense_Mutation_p.T456M|NSD1_ENST00000347982.4_Missense_Mutation_p.T456M|NSD1_ENST00000361032.4_Missense_Mutation_p.T622M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	725					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)		GGAACCGAGACGTCTCAGGTT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	20					0	0	1	0	0	T	176637574	C	T	176637574	3	4	80	1	0	0	0	0	1	0	0	0	10717	536	19	1	2188	1	NSD1	5	176637574	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	117143	176637574	4277686	152	1590											
FAM193B	54540	broad.mit.edu	37	chr5	176958324	176958324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcttggcggccctggCgctgttggggactttgggct	1	10	18	12	3	0	0	0	0	0	0	0	1	0	1	2	7	0	4	2	7	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176958324C>T	ENST00000329540.5	-	8	2941	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FAM193B_ENST00000443375.2_Missense_Mutation_p.A379T|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	420										kidney(1)|large_intestine(3)	4						GCGGCCCTGGCGCTGTTGGGG	0.657													8	9					0	0	1	0	0	T	176958324	C	T	176958324	3	4	80	1	0	0	0	0	1	0	0	0	5557	768	27	1	1250	1	FAM193B	5	176958324	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	320750	176958324	3956936	153	1591											
ELOVL2	54898	broad.mit.edu	37	chr6	10990061	10990061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcgtgatggtgagcaCgaactgcacctggggacggc	7	7	18	9	3	0	2	0	2	0	0	0	4	0	3	1	5	4	2	1	5	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:10990061C>T	ENST00000354666.3	-	7	723	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	214					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			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATGGTGAGCACGAACTGCACC	0.542													6	25					0	0	1	0	0	T	10990061	C	T	10990061	3	4	80	1	0	0	0	0	1	0	0	0	5102	536	19	1	258	1	ELOVL2	6	10990061	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		10990061	160125006	154	1592											
EDN1	1906	broad.mit.edu	37	chr6	12292598	12292598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggcgctgagctcagcgCggtgggtgagaacggcgggg	6	6	20	9	5	1	2	1	2	0	1	1	3	1	2	0	6	3	2	0	6	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:12292598C>T	ENST00000379375.5	+	2	356	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	30					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAGCTCAGCGCGGTGGGTGAG	0.612													5	104					0	0	1	0	0	T	12292598	C	T	12292598	3	4	80	1	0	0	0	0	1	0	0	0	4942	768	27	1	95	1	EDN1	6	12292598	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1302537	12292598	158822469	155	1593											
C6orf136	221545	broad.mit.edu	37	chr6	30617438	30617438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctcccctgcccccacGccttcccacccagcgtcttc	3	9	6	23	2	2	0	0	0	2	0	5	0	3	0	7	1	2	0	7	1	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:30617438G>A	ENST00000293604.6	+	2	912	c.719G>A	c.(718-720)cGc>cAc	p.R240H	C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Missense_Mutation_p.R59H|C6orf136_ENST00000376471.4_Intron	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	59										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTGCCCCCACGCCTTCCCACC	0.612													4	73					0	0	1	0	0	A	30617438	G	A	30617438	3	1	80	1	0	0	0	0	1	0	0	0	2345	1087	38	1	725	1	C6orf136	6	30617438	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	18324840	30617438	140497629	156	1594											
TCF19	6941	broad.mit.edu	37	chr6	31130268	31130268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaaatcgacgtggccGtcctcggaagtacccagtga	10	8	11	12	4	1	2	1	1	0	1	4	4	2	3	3	2	1	1	3	2	3	2	rs142309377	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31130268G>A	ENST00000376257.3	+	4	1566	c.812G>A	c.(811-813)cGt>cAt	p.R271H	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.R271H	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	271	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CGACGTGGCCGTCCTCGGAAG	0.607													5	39					0	0	1	0	0	A	31130268	G	A	31130268	3	1	80	1	0	0	0	0	1	0	0	0	15749	1145	40	1	822	1	TCF19	6	31130268	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	512830	31130268	139984799	157	1595											
NCR3	259197	broad.mit.edu	37	chr6	31557652	31557652	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgctggcgtcatggcctcGcacgtcccggatgtgcagct	5	9	14	13	4	1	0	1	0	0	0	3	2	2	1	2	3	3	4	2	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31557652G>A	ENST00000376073.4	-	2	558	c.295C>T	c.(295-297)Cga>Tga	p.R99*	NCR3_ENST00000376072.3_Nonsense_Mutation_p.R99*|NCR3_ENST00000376071.4_Nonsense_Mutation_p.R74*|NCR3_ENST00000340027.5_Nonsense_Mutation_p.R99*|NCR3_ENST00000491161.1_5'UTR	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	99	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TCATGGCCTCGCACGTCCCGG	0.622													34	37					0	0	1	0	0	A	31557652	G	A	31557652	4	1	80	1	0	0	0	0	0	1	0	0	10286	1095	38	1	445	1	NCR3	6	31557652	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	427384	31557652	139557415	158	1596											
LY6G6C	80740	broad.mit.edu	37	chr6	31687914	31687914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgtcctggctccaggCggcaggactgccggtccaca	6	8	13	14	2	0	0	0	0	0	0	3	1	3	1	4	5	2	3	4	5	0	1	rs150046471		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31687914C>T	ENST00000375819.2	-	2	284	c.119G>A	c.(118-120)cGc>cAc	p.R40H	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	40	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TGGCTCCAGGCGGCAGGACTG	0.587													14	33					0	0	1	0	0	T	31687914	C	T	31687914	3	4	80	1	0	0	0	0	1	0	0	0	9140	768	27	1	266	1	LY6G6C	6	31687914	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	130262	31687914	139427153	159	1597											
TNXB	7148	broad.mit.edu	37	chr6	32017060	32017060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcacccgtgatgcccacGgtggacactgggcccacgcg	7	5	12	17	4	1	1	1	1	0	0	1	2	1	2	3	3	1	0	3	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:32017060G>A	ENST00000375244.3	-	28	9945	c.9744C>T	c.(9742-9744)acC>acT	p.T3248T	TNXB_ENST00000375247.2_Silent_p.T3246T			P22105	TENX_HUMAN	tenascin XB	3293	Fibronectin type-III 24.				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						TGATGCCCACGGTGGACACTG	0.637													4	14					0	0	1	0	0	A	32017060	G	A	32017060	2	1	80	1	0	0	0	0	0	0	0	1	16406	1103	39	1		1	TNXB	6	32017060	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	329146	32017060	139098007	160	1598											
ATF6B	1388	broad.mit.edu	37	chr6	32084485	32084485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaggagaaactcacccttCggaaagagacaacataaaat	18	5	9	9	1	1	2	1	0	0	2	2	5	1	3	1	3	2	1	1	3	5	2	rs148987710		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:32084485C>T	ENST00000375201.4	-	16	1829	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ATF6B_ENST00000375203.3_Missense_Mutation_p.R598Q			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	598					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						ACTCACCCTTCGGAAAGAGAC	0.552													15	15					0	0	1	0	0	T	32084485	C	T	32084485	3	4	80	1	0	0	0	0	1	0	0	0	1084	884	31	1	330	1	ATF6B	6	32084485	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	67425	32084485	139030582	161	1599											
RPL10A	4736	broad.mit.edu	37	chr6	35437971	35437971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagccaagaagtatgatgCgtttttggcctcagagtctc	10	12	10	9	1	3	3	2	1	1	2	4	3	3	3	2	1	2	2	2	1	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:35437971C>T	ENST00000322203.6	+	5	353	c.326C>T	c.(325-327)gCg>gTg	p.A109V	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	109					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						AAGTATGATGCGTTTTTGGCC	0.498													3	33					0	0	1	0	0	T	35437971	C	T	35437971	3	4	80	1	0	0	0	0	1	0	0	0	13607	768	27	1	344	1	RPL10A	6	35437971	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3353486	35437971	135677096	162	1600											
GLP1R	2740	broad.mit.edu	37	chr6	39053698	39053698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtccagctggaatttcGgaagagctgggagcgctggc	9	7	17	8	2	0	1	0	0	0	1	2	5	1	4	1	5	3	3	1	5	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:39053698G>A	ENST00000373256.4	+	13	1284	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CTGGAATTTCGGAAGAGCTGG	0.547													75	77					0	0	1	0	0	A	39053698	G	A	39053698	3	1	80	1	0	0	0	0	1	0	0	0	6494	1116	39	1	1291	1	GLP1R	6	39053698	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3615727	39053698	132061369	163	1601											
UNC5CL	222643	broad.mit.edu	37	chr6	41000848	41000848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagccatttgcgggcttCgcgccccacaggtgcctcca	5	8	11	17	3	0	0	0	0	0	0	2	0	1	0	5	2	4	2	5	2	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:41000848C>T	ENST00000244565.3	-	4	812	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	UNC5CL_ENST00000373164.1_Missense_Mutation_p.E242K	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	242	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCGGGCTTCGCGCCCCACA	0.602													6	7					0	0	1	0	0	T	41000848	C	T	41000848	3	4	80	1	0	0	0	0	1	0	0	0	17054	893	31	1	856	1	UNC5CL	6	41000848	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1947150	41000848	130114219	164	1602											
UBR2	23304	broad.mit.edu	37	chr6	42626026	42626026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttcacctaccagtcccGtggcagagacagaaggaacc	13	5	11	12	1	1	3	1	0	0	3	2	5	2	4	4	2	2	2	4	2	3	2	rs147976047		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:42626026G>A	ENST00000372899.1	+	28	3289	c.3031G>A	c.(3031-3033)Gtg>Atg	p.V1011M	UBR2_ENST00000372883.3_Missense_Mutation_p.V515M|UBR2_ENST00000372901.1_Missense_Mutation_p.V1011M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1011					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACCAGTCCCGTGGCAGAGAC	0.323													17	25					0	0	1	0	0	A	42626026	G	A	42626026	3	1	80	1	0	0	0	0	1	0	0	0	16963	1145	40	1	3287	1	UBR2	6	42626026	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1625178	42626026	128489041	165	1603											
CUL7	9820	broad.mit.edu	37	chr6	43010840	43010840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacggcccgccaacagCgcgtcaggtttctcatgatg	8	7	10	16	4	2	1	2	1	1	0	3	1	2	1	4	2	2	1	4	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:43010840C>T	ENST00000535468.1	-	18	3772	c.3686G>A	c.(3685-3687)cGc>cAc	p.R1229H	CUL7_ENST00000265348.3_Missense_Mutation_p.R1145H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1145					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGCCAACAGCGCGTCAGGTT	0.592													12	37					0	0	1	0	0	T	43010840	C	T	43010840	3	4	80	1	0	0	0	0	1	0	0	0	4083	768	27	1	1698	1	CUL7	6	43010840	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	384814	43010840	128104227	166	1604											
TTBK1	84630	broad.mit.edu	37	chr6	43251679	43251679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggaggacacgggctcGgagccctcaggctcactgtc	7	7	14	13	2	3	1	2	1	1	0	5	4	3	4	1	5	1	2	1	5	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:43251679G>A	ENST00000259750.4	+	14	3284	c.3201G>A	c.(3199-3201)tcG>tcA	p.S1067S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1067						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACACGGGCTCGGAGCCCTCAG	0.677													8	10					0	0	1	0	0	A	43251679	G	A	43251679	2	1	80	1	0	0	0	0	0	0	0	1	16738	1103	39	1		1	TTBK1	6	43251679	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	240839	43251679	127863388	167	1605											
PLA2G7	7941	broad.mit.edu	37	chr6	46678287	46678287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttatagcttaccttcaGttgttccatatcaaacttta	10	19	3	9	0	2	0	2	0	0	0	3	0	3	0	2	0	3	3	2	0	6	11			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:46678287G>C	ENST00000274793.7	-	8	968	c.772C>G	c.(772-774)Ctg>Gtg	p.L258V	PLA2G7_ENST00000538237.1_Missense_Mutation_p.L213V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L258V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.L131V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	258					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTTACCTTCAGTTGTTCCATA	0.313													4	35					0	0	1	0	0	C	46678287	G	C	46678287	3	2	80	1	0	0	0	0	1	0	0	0	12057	1020	36	5	573	5	PLA2G7	6	46678287	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3426608	46678287	124436780	168	1606											
FUT9	10690	broad.mit.edu	37	chr6	96651363	96651363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagttctgatccatcaccGagacatcagttgggatctga	10	11	10	10	1	4	3	2	2	2	1	5	5	5	4	2	1	1	3	2	1	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:96651363G>A	ENST00000302103.5	+	3	658	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	111					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)		ATCCATCACCGAGACATCAGT	0.468													11	28					0	0	1	0	0	A	96651363	G	A	96651363	3	1	80	1	0	0	0	0	1	0	0	0	6146	1058	37	1	334	1	FUT9	6	96651363	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	49973076	96651363	74463704	169	1607											
ASCC3	10973	broad.mit.edu	37	chr6	101075567	101075567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgggcgtactgatggtCggaagttaaacaagcccatc	12	8	12	9	2	0	1	0	1	0	0	2	3	0	2	1	3	4	2	1	3	6	2	rs142364575	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:101075567C>T	ENST00000369162.2	-	29	4885	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1514					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)		TACTGATGGTCGGAAGTTAAA	0.368													8	17					0	0	1	0	0	T	101075567	C	T	101075567	3	4	80	1	0	0	0	0	1	0	0	0	1032	884	31	1	2123	1	ASCC3	6	101075567	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4424204	101075567	70039500	170	1608											
ASCC3	10973	broad.mit.edu	37	chr6	101075824	101075824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgagataaaatttgttCgagatacaatgacctctaga	15	12	9	5	1	1	5	0	3	1	3	2	7	1	5	1	0	1	1	1	0	5	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:101075824C>T	ENST00000369162.2	-	28	4759	c.4415G>A	c.(4414-4416)cGa>cAa	p.R1472Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1472	Helicase ATP-binding 2.				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)		AAAATTTGTTCGAGATACAAT	0.393													6	37					0	0	1	0	0	T	101075824	C	T	101075824	3	4	80	1	0	0	0	0	1	0	0	0	1032	884	31	1	2253	1	ASCC3	6	101075824	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	257	101075824	70039243	171	1609											
BEND3	57673	broad.mit.edu	37	chr6	107390354	107390354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctcaaactcctcccGgaacctctcggggttgattg	6	9	11	15	2	2	1	1	1	1	0	5	2	4	2	5	4	2	1	5	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:107390354G>A	ENST00000429433.2	-	5	2690	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	BEND3_ENST00000369042.1_Missense_Mutation_p.R681W	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	681										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AACTCCTCCCGGAACCTCTCG	0.637													6	30					0	0	1	0	0	A	107390354	G	A	107390354	3	1	80	1	0	0	0	0	1	0	0	0	1397	1115	39	1	449	1	BEND3	6	107390354	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6314530	107390354	63724713	172	1610											
FOXO3	2309	broad.mit.edu	37	chr6	108985561	108985561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaattcccgccggaacGtgatgcttcgcaatgatccg	9	8	10	14	5	0	3	0	2	0	1	3	4	2	4	4	1	2	2	4	1	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:108985561G>A	ENST00000406360.1	+	2	1868	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	FOXO3_ENST00000343882.6_Missense_Mutation_p.V509M|FOXO3_ENST00000540898.1_Missense_Mutation_p.V289M	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	509					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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	p.V509L(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCGCCGGAACGTGATGCTTCG	0.557													9	15					0	0	1	0	0	A	108985561	G	A	108985561	3	1	80	1	0	0	0	0	1	0	0	0	6058	1145	40	1	1531	1	FOXO3	6	108985561	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1595207	108985561	62129506	173	1611											
KIAA1919	91749	broad.mit.edu	37	chr6	111583554	111583554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcatttttgtgggtcGtgccttgggatatttgagtg	4	19	13	5	1	2	1	1	1	1	0	3	2	2	2	1	2	1	0	1	2	1	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:111583554G>A	ENST00000368847.4	+	2	475	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	41					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGTGGGTCGTGCCTTGGGA	0.383													56	123					0	0	1	0	0	A	111583554	G	A	111583554	3	1	80	1	0	0	0	0	1	0	0	0	8304	1145	40	1	128	1	KIAA1919	6	111583554	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2597993	111583554	59531513	174	1612											
MAN1A1	4121	broad.mit.edu	37	chr6	119509576	119509576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaacatcacctctacGgcttcccaggcccatttcct	11	11	4	15	1	2	0	1	0	1	0	4	0	4	0	4	2	2	1	4	2	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:119509576G>A	ENST00000368468.3	-	11	2154	c.1713C>T	c.(1711-1713)gcC>gcT	p.A571A		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	571					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|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)		TCACCTCTACGGCTTCCCAGG	0.348													12	74					0	0	1	0	0	A	119509576	G	A	119509576	2	1	80	1	0	0	0	0	0	0	0	1	9260	1103	39	1		1	MAN1A1	6	119509576	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7926022	119509576	51605491	175	1613											
GJA1	2697	broad.mit.edu	37	chr6	121768726	121768726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgggttaagggaaagagcGacccttaccatgcgaccagt	12	7	12	10	3	0	1	0	0	0	1	1	4	0	2	3	2	3	1	3	2	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:121768726G>A	ENST00000282561.3	+	2	890	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	245					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGGAAAGAGCGACCCTTACCA	0.507													8	30					0	0	1	0	0	A	121768726	G	A	121768726	3	1	80	1	0	0	0	0	1	0	0	0	6442	1058	37	1	735	1	GJA1	6	121768726	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2259150	121768726	49346341	176	1614											
AHI1	54806	broad.mit.edu	37	chr6	135778798	135778798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggataaaccgggctatctcGgcttgttatttcatgaacac	10	12	10	9	2	2	1	1	1	1	0	3	2	2	2	1	3	2	3	1	3	5	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:135778798G>A	ENST00000367800.4	-	7	1201	c.985C>T	c.(985-987)Cga>Tga	p.R329*	AHI1_ENST00000327035.6_Nonsense_Mutation_p.R329*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.R329*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGGCTATCTCGGCTTGTTATT	0.358													38	46					0	0	1	0	0	A	135778798	G	A	135778798	4	1	80	1	0	0	0	0	0	1	0	0	410	1124	39	1	2746	1	AHI1	6	135778798	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14010072	135778798	35336269	177	1615											
MAP3K5	4217	broad.mit.edu	37	chr6	136888863	136888863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaactgagcgtgctcaCgcctgaggtagccacagcat	11	7	12	11	2	1	3	1	2	0	1	1	3	1	3	2	1	5	4	2	1	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:136888863C>T	ENST00000359015.4	-	26	4027	c.3667G>A	c.(3667-3669)Gtg>Atg	p.V1223M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.V470M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1223					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGCGTGCTCACGCCTGAGGTA	0.468													5	27					0	0	1	0	0	T	136888863	C	T	136888863	3	4	80	1	0	0	0	0	1	0	0	0	9303	536	19	1	477	1	MAP3K5	6	136888863	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1110065	136888863	34226204	178	1616											
UTRN	7402	broad.mit.edu	37	chr6	144814587	144814587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttacaatgacctgggcGcacaggtgaggagagcagcc	10	8	13	10	1	1	3	0	2	1	1	1	4	1	3	2	3	3	2	2	3	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:144814587G>A	ENST00000367545.3	+	32	4588	c.4588G>A	c.(4588-4590)Gca>Aca	p.A1530T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1530	Interaction with SYNM.				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)		TGACCTGGGCGCACAGGTGAG	0.468													19	9					0	0	1	0	0	A	144814587	G	A	144814587	3	1	80	1	0	0	0	0	1	0	0	0	17163	1087	38	1	4714	1	UTRN	6	144814587	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7925724	144814587	26300480	179	1617											
IYD	389434	broad.mit.edu	37	chr6	150719260	150719260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgagggtgctcctgggcCgccccgcacatgaaaagctg	8	6	14	13	2	0	2	0	2	0	0	1	3	1	2	4	2	2	3	4	2	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:150719260C>T	ENST00000344419.3	+	5	897	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	IYD_ENST00000229447.5_Missense_Mutation_p.P290L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	253					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GCTCCTGGGCCGCCCCGCACA	0.557													6	64					0	0	1	0	0	T	150719260	C	T	150719260	3	4	80	1	0	0	0	0	1	0	0	0	7976	652	23	1	952	1	IYD	6	150719260	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5904673	150719260	20395807	180	1618											
ESR1	2099	broad.mit.edu	37	chr6	152332878	152332878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattggtctcgtctggcgctCcatggagcacccagggaagc	7	8	14	12	2	2	0	0	0	2	0	4	3	3	2	2	4	2	2	2	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:152332878C>T	ENST00000440973.1	+	7	1554	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ESR1_ENST00000456483.2_Missense_Mutation_p.S283F|ESR1_ENST00000427531.2_Missense_Mutation_p.S222F|ESR1_ENST00000443427.1_Missense_Mutation_p.S395F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S395F|ESR1_ENST00000338799.5_Missense_Mutation_p.S395F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	395	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)	GTCTGGCGCTCCATGGAGCAC	0.493													47	50					0	0	1	0	0	T	152332878	C	T	152332878	3	4	80	1	0	0	0	0	1	0	0	0	5284	855	30	3	1202	3	ESR1	6	152332878	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1613618	152332878	18782189	181	1619											
SYTL3	94120	broad.mit.edu	37	chr6	159181683	159181683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccaggcggagaaataCgaagacagcgttcctcagag	12	6	12	11	3	1	3	1	0	0	3	3	5	3	3	3	2	2	1	3	2	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:159181683C>T	ENST00000297239.9	+	14	1514	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	SYTL3_ENST00000360448.3_Silent_p.Y372Y|SYTL3_ENST00000367081.3_Silent_p.Y166Y			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	440					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)		CGGAGAAATACGAAGACAGCG	0.547													19	56					0	0	1	0	0	T	159181683	C	T	159181683	2	4	80	1	0	0	0	0	0	0	0	1	15541	547	19	1		1	SYTL3	6	159181683	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6848805	159181683	11933384	182	1620											
FNDC1	84624	broad.mit.edu	37	chr6	159646638	159646638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcagatcgctaacaggcGtgtgctgattgagaacctga	12	9	12	8	2	0	4	0	3	0	2	1	5	0	4	1	1	4	3	1	1	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:159646638G>A	ENST00000297267.9	+	8	1156	c.956G>A	c.(955-957)cGt>cAt	p.R319H	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.R319H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTAACAGGCGTGTGCTGATT	0.463													45	75					0	0	1	0	0	A	159646638	G	A	159646638	3	1	80	1	0	0	0	0	1	0	0	0	6001	1145	40	1	986	1	FNDC1	6	159646638	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	464955	159646638	11468429	183	1621											
LPA	4018	broad.mit.edu	37	chr6	161027540	161027540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcctctaggcttggaatCggggtaatagttggaggcgc	8	9	17	7	2	1	0	0	0	1	0	2	3	1	3	1	7	1	3	1	7	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:161027540C>T	ENST00000447678.1	-	18	2874	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P	LPA_ENST00000316300.5_Silent_p.P918P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3426	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTTGGAATCGGGGTAATAG	0.527													4	86					0	0	1	0	0	T	161027540	C	T	161027540	2	4	80	1	0	0	0	0	0	0	0	1	8948	871	31	1		1	LPA	6	161027540	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1380902	161027540	10087527	184	1622											
THBS2	7058	broad.mit.edu	37	chr6	169648976	169648976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaagccggcacgccggggtCgggcccgcggaactgcttgg	5	5	18	13	6	0	0	0	0	0	0	1	1	0	1	3	6	3	3	3	6	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:169648976C>T	ENST00000366787.3	-	4	394	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	49	Heparin-binding (Potential).|TSP N-terminal.				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)		ACGCCGGGGTCGGGCCCGCGG	0.577													6	22					0	0	1	0	0	T	169648976	C	T	169648976	3	4	80	1	0	0	0	0	1	0	0	0	15914	884	31	1	3453	1	THBS2	6	169648976	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8621436	169648976	1466091	185	1623											
WDR27	253769	broad.mit.edu	37	chr6	170068142	170068142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggacagaactccaccGcagtcaccgggcccaggtgg	9	3	14	15	2	1	1	1	0	0	1	2	2	2	2	5	4	1	1	5	4	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:170068142G>A	ENST00000333572.6	-	5	1115	c.596C>T	c.(595-597)gCg>gTg	p.A199V	WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000448612.1_Missense_Mutation_p.A199V			A2RRH5	WDR27_HUMAN	WD repeat domain 27	169										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GAACTCCACCGCAGTCACCGG	0.632													7	21					0	0	1	0	0	A	170068142	G	A	170068142	3	1	80	1	0	0	0	0	1	0	0	0	17344	1087	38	1	2061	1	WDR27	6	170068142	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	419166	170068142	1046925	186	1624											
CHST12	55501	broad.mit.edu	37	chr7	2472887	2472887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccgctgcgcatcccgcgcGagcacgtgcacaacgccagc	8	3	11	19	7	0	0	0	0	0	0	1	1	1	0	3	0	5	4	3	0	1	0	rs138563894		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:2472887G>A	ENST00000258711.6	+	2	748	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	205					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CATCCCGCGCGAGCACGTGCA	0.647													13	10					0	0	1	0	0	A	2472887	G	A	2472887	3	1	80	1	0	0	0	0	1	0	0	0	3422	1059	37	1	615	1	CHST12	7	2472887	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		2472887	156665776	187	1625											
RADIL	55698	broad.mit.edu	37	chr7	4917502	4917502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctccttcaccagctcaCgggcgctggaggtgccggtg	4	7	15	15	4	2	0	2	0	0	0	3	1	3	1	4	4	2	2	4	4	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:4917502C>T	ENST00000399583.3	-	2	456	c.269G>A	c.(268-270)cGt>cAt	p.R90H	RADIL_ENST00000536091.1_Missense_Mutation_p.R90H	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	90	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGCTCACGGGCGCTGGA	0.677													12	16					0	0	1	0	0	T	4917502	C	T	4917502	3	4	80	1	0	0	0	0	1	0	0	0	13049	536	19	1	3014	1	RADIL	7	4917502	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2444615	4917502	154221161	188	1626											
RADIL	55698	broad.mit.edu	37	chr7	4917629	4917629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcggggtcatcgctggCgcccaggctggagaaggtgg	5	6	19	11	4	1	1	1	0	0	1	3	2	1	1	1	8	0	2	1	8	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:4917629C>T	ENST00000399583.3	-	2	329	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	RADIL_ENST00000536091.1_Missense_Mutation_p.A48T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	48					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCATCGCTGGCGCCCAGGCTG	0.627													5	5					0	0	1	0	0	T	4917629	C	T	4917629	3	4	80	1	0	0	0	0	1	0	0	0	13049	768	27	1	3141	1	RADIL	7	4917629	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	127	4917629	154221034	189	1627											
FBXL18	80028	broad.mit.edu	37	chr7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaggttgcagcaggacGccaccagagtctccaggatg	9	5	15	12	2	1	1	0	0	1	1	2	3	1	3	3	4	2	4	3	4	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687													18	16					0	0	1	0	0	A	5540761	G	A	5540761	3	1	80	1	0	0	0	0	1	0	0	0	5747	1087	38	1	1029	1	FBXL18	7	5540761	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	623132	5540761	153597902	190	1628											
CYTH3	9265	broad.mit.edu	37	chr7	6205175	6205175	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcaggaggaagagcttaCgggtttccgggggtcctcca	7	9	16	9	2	1	1	1	0	0	1	4	3	4	3	3	6	2	3	3	6	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:6205175C>T	ENST00000350796.3	-	11	1109		c.e11+1		CYTH3_ENST00000396741.2_Splice_Site	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GAAGAGCTTACGGGTTTCCGG	0.622													26	29					0	0	1	0	0	T	6205175	C	T	6205175	5	4	80	1	0	0	0	0	0	0	1	0	4228	550	19	1	238	1	CYTH3	7	6205175	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	664414	6205175	152933488	191	1629											
BZW2	28969	broad.mit.edu	37	chr7	16720938	16720938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagcccctggaggaaCgcgcatagatgatggtgaca	10	10	12	9	2	0	3	0	2	0	1	0	5	0	5	2	3	2	1	2	3	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:16720938C>T	ENST00000433922.2	+	4	426	c.248C>T	c.(247-249)aCg>aTg	p.T83M	BZW2_ENST00000258761.3_Missense_Mutation_p.T83M|BZW2_ENST00000452975.2_Missense_Mutation_p.T83M|BZW2_ENST00000405202.1_Missense_Mutation_p.T7M|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	83					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCTGGAGGAACGCGCATAGAT	0.403													4	16					0	0	1	0	0	T	16720938	C	T	16720938	3	4	80	1	0	0	0	0	1	0	0	0	1582	536	19	1	258	1	BZW2	7	16720938	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10515763	16720938	142417725	192	1630											
HECW1	23072	broad.mit.edu	37	chr7	43532713	43532713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattgtggcatttcttcGccagccaaacatttttgaaa	12	13	7	9	1	1	2	0	1	1	1	2	2	1	2	2	1	2	1	2	1	3	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:43532713G>A	ENST00000395891.2	+	19	3976	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H	HECW1_ENST00000453890.1_Missense_Mutation_p.R1090H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1103H(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCATTTCTTCGCCAGCCAAAC	0.463													5	17					0	0	1	0	0	A	43532713	G	A	43532713	3	1	80	1	0	0	0	0	1	0	0	0	7083	1087	38	1	3437	1	HECW1	7	43532713	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	26811775	43532713	115605950	193	1631											
TNS3	64759	broad.mit.edu	37	chr7	47333375	47333375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaccgcactcccttcGgggtacactcgatcaaaaag	11	9	7	14	3	2	0	2	0	0	0	5	1	3	0	2	2	2	2	2	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47333375G>A	ENST00000398879.1	-	25	4094	c.3728C>T	c.(3727-3729)cCg>cTg	p.P1243L	TNS3_ENST00000311160.9_Missense_Mutation_p.P1243L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003L			Q68CZ2	TENS3_HUMAN	tensin 3	1243	SH2.					focal adhesion	protein binding	p.P1243Q(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACTCCCTTCGGGGTACACTC	0.458													23	26					0	0	1	0	0	A	47333375	G	A	47333375	3	1	80	1	0	0	0	0	1	0	0	0	16404	1116	39	1	637	1	TNS3	7	47333375	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3800662	47333375	111805288	194	1632											
TNS3	64759	broad.mit.edu	37	chr7	47408251	47408251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggaaacctgggtttgaaCgctttgctgggagagggctg	7	10	16	8	1	0	2	0	1	0	1	0	4	0	3	2	4	3	4	2	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47408251C>T	ENST00000398879.1	-	17	2358	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	TNS3_ENST00000311160.9_Silent_p.A664A|TNS3_ENST00000355730.3_Silent_p.A424A			Q68CZ2	TENS3_HUMAN	tensin 3	664						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGTTTGAACGCTTTGCTGG	0.647													26	121					0	0	1	0	0	T	47408251	C	T	47408251	2	4	80	1	0	0	0	0	0	0	0	1	16404	523	19	1		1	TNS3	7	47408251	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	74876	47408251	111730412	195	1633											
TNS3	64759	broad.mit.edu	37	chr7	47408605	47408605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcccgctcataggggccGtccatgccaaggcccaggtc	6	6	12	17	3	1	0	1	0	0	0	4	0	3	0	5	4	1	2	5	4	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47408605G>A	ENST00000398879.1	-	17	2004	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	TNS3_ENST00000311160.9_Silent_p.D546D|TNS3_ENST00000355730.3_Silent_p.D306D			Q68CZ2	TENS3_HUMAN	tensin 3	546						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATAGGGGCCGTCCATGCCAA	0.617													12	31					0	0	1	0	0	A	47408605	G	A	47408605	2	1	80	1	0	0	0	0	0	0	0	1	16404	1136	40	1		1	TNS3	7	47408605	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	354	47408605	111730058	196	1634											
TBL2	26608	broad.mit.edu	37	chr7	72988286	72988286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgcagtcagggctgaagCgcaccagggtggcgtggtcc	7	6	16	12	2	1	1	1	1	0	0	2	1	2	1	3	4	2	3	3	4	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:72988286C>T	ENST00000305632.5	-	3	669	c.428G>A	c.(427-429)cGc>cAc	p.R143H	TBL2_ENST00000452475.1_Missense_Mutation_p.R143H|TBL2_ENST00000432538.1_Missense_Mutation_p.R107H|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	143										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)				AGGGCTGAAGCGCACCAGGGT	0.607													30	37					0	0	1	0	0	T	72988286	C	T	72988286	3	4	80	1	0	0	0	0	1	0	0	0	15702	768	27	1	935	1	TBL2	7	72988286	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25579681	72988286	86150377	197	1635											
CACNA2D1	781	broad.mit.edu	37	chr7	81635088	81635088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttcatcttactgtaaaaCgtggtgtcagtcttttaata	12	17	6	6	1	4	0	2	0	2	0	4	0	4	0	0	1	2	1	0	1	6	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:81635088C>T	ENST00000356860.3	-	17	1846	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R503H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	503	Cache.					voltage-gated calcium channel complex	metal ion binding	p.R503L(1)		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)	TACTGTAAAACGTGGTGTCAG	0.358													21	21					0	0	1	0	0	T	81635088	C	T	81635088	3	4	80	1	0	0	0	0	1	0	0	0	2566	536	19	1	1859	1	CACNA2D1	7	81635088	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8646802	81635088	77503575	198	1636											
KIAA1324L	222223	broad.mit.edu	37	chr7	86526871	86526871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcatggaagtcatgctccGtacacagagggcaagcttca	11	9	10	11	1	3	1	3	0	1	1	5	2	4	2	1	2	3	4	1	2	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:86526871G>A	ENST00000450689.2	-	19	2821	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T712M|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T808M|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T639M	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	879						integral to membrane		p.T639M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GTCATGCTCCGTACACAGAGG	0.463													11	35					0	0	1	0	0	A	86526871	G	A	86526871	3	1	80	1	0	0	0	0	1	0	0	0	8266	1145	40	1	469	1	KIAA1324L	7	86526871	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4891783	86526871	72611792	199	1637											
PTCD1	26024	broad.mit.edu	37	chr7	99022532	99022532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgccaggaccggcaacagCgccttggccccctccaggtc	6	7	11	17	2	0	0	0	0	0	0	2	1	1	1	6	4	3	1	6	4	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:99022532C>T	ENST00000292478.4	-	6	1873	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	PTCD1_ENST00000555673.1_Silent_p.A590A|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A590A	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCGGCAACAGCGCCTTGGCCC	0.612													7	19					0	0	1	0	0	T	99022532	C	T	99022532	2	4	80	1	0	0	0	0	0	0	0	1	12776	755	27	1		1	PTCD1	7	99022532	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12495661	99022532	60116131	200	1638											
PVRIG	79037	broad.mit.edu	37	chr7	99817744	99817744	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttccacagggaccccGgaggtgtgggttcaagttcg	6	10	15	10	2	1	0	1	0	0	0	3	2	2	2	3	4	1	4	3	4	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:99817744G>A	ENST00000317271.2	+	3	489	c.126G>A	c.(124-126)ccG>ccA	p.P42P	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	42						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGGACCCCGGAGGTGTGGG	0.637													5	3					0	0	1	0	0	A	99817744	G	A	99817744	2	1	80	1	0	0	0	0	0	0	0	1	12890	1103	39	1		1	PVRIG	7	99817744	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	795212	99817744	59320919	201	1639											
TRIM56	81844	broad.mit.edu	37	chr7	100731056	100731056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggtgggctacagggccGggtggtatgatgaggaggcc	7	7	19	8	1	0	2	0	2	0	0	0	3	0	3	3	7	1	2	3	7	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:100731056G>A	ENST00000306085.6	+	3	760	c.463G>A	c.(463-465)Ggg>Agg	p.G155R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	155					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)					CTACAGGGCCGGGTGGTATGA	0.701													5	11					0	0	1	0	0	A	100731056	G	A	100731056	3	1	80	1	0	0	0	0	1	0	0	0	16591	1116	39	1	465	1	TRIM56	7	100731056	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	913312	100731056	58407607	202	1640											
MYL10	93408	broad.mit.edu	37	chr7	101259574	101259574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatggtctcctctgggtcCgtgcctataagcagcacata	10	10	10	11	1	2	1	0	0	2	1	4	1	3	1	3	2	3	2	3	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:101259574C>T	ENST00000223167.4	-	6	636	c.459G>A	c.(457-459)acG>acA	p.T153T		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	153						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCTGGGTCCGTGCCTATAA	0.592													4	13					0	0	1	0	0	T	101259574	C	T	101259574	2	4	80	1	0	0	0	0	0	0	0	1	10092	639	23	1		1	MYL10	7	101259574	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	528518	101259574	57879089	203	1641											
FOXP2	93986	broad.mit.edu	37	chr7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcctactgcaggccGtccacgaagacctcaatggt	9	7	11	14	2	1	1	1	0	0	1	2	2	2	1	5	3	2	1	5	3	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:114304409G>A	ENST00000408937.3	+	17	2370	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I|FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.V641I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	641					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|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			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483													20	22					0	0	1	0	0	A	114304409	G	A	114304409	3	1	80	1	0	0	0	0	1	0	0	0	6061	1145	40	1	2146	1	FOXP2	7	114304409	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13044835	114304409	44834254	204	1642											
WNT2	7472	broad.mit.edu	37	chr7	116937892	116937892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgagccgctcaccccGtggcacttgcactcttgttt	6	12	9	14	2	2	1	1	1	1	0	2	1	2	1	3	1	3	5	3	1	1	4	rs138318436		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:116937892G>A	ENST00000265441.3	-	4	926	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	209					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CGCTCACCCCGTGGCACTTGC	0.547													11	70					0	0	1	0	0	A	116937892	G	A	116937892	2	1	80	1	0	0	0	0	0	0	0	1	17446	1136	40	1		1	WNT2	7	116937892	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2633483	116937892	42200771	205	1643											
CTTNBP2	83992	broad.mit.edu	37	chr7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgcagctgcacccagCggaaatgctgctgcaccagc	9	4	10	18	2	0	0	0	0	0	0	0	1	0	1	4	1	7	6	4	1	1	0	rs35288952		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266										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)		CTGCACCCAGCGGAAATGCTG	0.532													8	27					0	0	1	0	0	T	117375046	C	T	117375046	3	4	80	1	0	0	0	0	1	0	0	0	4069	768	27	1	1226	1	CTTNBP2	7	117375046	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	437154	117375046	41763617	206	1644											
SLC13A1	6561	broad.mit.edu	37	chr7	122787322	122787322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtaagtttacgtgtcaCgtggcccttctttgttcgat	7	15	9	10	4	2	0	1	0	1	0	3	1	2	0	1	1	1	3	1	1	2	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:122787322C>T	ENST00000194130.2	-	7	742	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	235						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)	TTACGTGTCACGTGGCCCTTC	0.418													9	42					0	0	1	0	0	T	122787322	C	T	122787322	3	4	80	1	0	0	0	0	1	0	0	0	14446	536	19	1	1120	1	SLC13A1	7	122787322	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5412276	122787322	36351341	207	1645											
MEST	4232	broad.mit.edu	37	chr7	130138026	130138026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccagcatcgtggaagCgcttttgcggcatctggggc	6	8	16	11	3	1	0	0	0	1	0	2	1	1	1	1	5	3	4	1	5	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:130138026C>T	ENST00000223215.4	+	5	607	c.386C>T	c.(385-387)gCg>gTg	p.A129V	MEST_ENST00000462132.1_3'UTR|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.A120V|MEST_ENST00000437945.1_Missense_Mutation_p.A129V|MEST_ENST00000378576.4_Missense_Mutation_p.A120V|MEST_ENST00000416162.2_Missense_Mutation_p.A120V|MEST_ENST00000341441.5_Missense_Mutation_p.A120V	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	129					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ATCGTGGAAGCGCTTTTGCGG	0.502													10	49					0	0	1	0	0	T	130138026	C	T	130138026	3	4	80	1	0	0	0	0	1	0	0	0	9534	768	27	1	404	1	MEST	7	130138026	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7350704	130138026	29000637	208	1646											
OR2A14	135941	broad.mit.edu	37	chr7	143826996	143826996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatggcccccaagtcccGccatcctgaggagcagcaga	10	5	11	15	1	0	2	0	1	0	1	2	3	2	3	5	2	3	3	5	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:143826996G>A	ENST00000408899.2	+	1	846	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCAAGTCCCGCCATCCTGAG	0.542													42	68					0	0	1	0	0	A	143826996	G	A	143826996	3	1	80	1	0	0	0	0	1	0	0	0	11024	1087	38	1	793	1	OR2A14	7	143826996	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13688970	143826996	15311667	209	1647											
ZNF425	155054	broad.mit.edu	37	chr7	148802334	148802334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctcttggagtggctcCgtttgtgctttagcaaatcc	5	14	12	10	1	1	0	0	0	1	0	3	1	3	1	2	3	2	6	2	3	2	4	rs147910083		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:148802334C>T	ENST00000378061.2	-	4	761	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	210					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGAGTGGCTCCGTTTGTGCTT	0.522													17	40					0	0	1	0	0	T	148802334	C	T	148802334	3	4	80	1	0	0	0	0	1	0	0	0	17956	652	23	1	1633	1	ZNF425	7	148802334	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4975338	148802334	10336329	210	1648											
SSPO	23145	broad.mit.edu	37	chr7	149515812	149515812	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgctcgccctgcatggCgcagccgcacccgcctctgc	4	5	10	22	5	1	0	0	0	1	0	2	0	1	0	6	1	3	4	6	1	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:149515812C>T	ENST00000378016.2	+	0	11713							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCATGGCGCAGCCGCAC	0.687													5	15					0	0	1	0	0	T	149515812	C	T	149515812	1	4	80	0	1	0	0	0	0	0	0	0	15245	768	27	1		1	SSPO	7	149515812	RNA	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	713478	149515812	9622851	211	1649											
SLC4A2	6522	broad.mit.edu	37	chr7	150768837	150768837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccacagcgctccagggCgtggtcttctgcctgctggg	4	10	14	13	2	2	0	0	0	2	0	4	0	4	0	3	3	3	2	3	3	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:150768837C>T	ENST00000485713.1	+	15	3293	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	SLC4A2_ENST00000461735.1_Silent_p.G737G|SLC4A2_ENST00000310317.5_Silent_p.G669G|SLC4A2_ENST00000413384.2_Silent_p.G751G|SLC4A2_ENST00000392826.2_Silent_p.G742G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	751	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)		CGCTCCAGGGCGTGGTCTTCT	0.622													12	42					0	0	1	0	0	T	150768837	C	T	150768837	2	4	80	1	0	0	0	0	0	0	0	1	14709	755	27	1		1	SLC4A2	7	150768837	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1253025	150768837	8369826	212	1650											
ASB10	136371	broad.mit.edu	37	chr7	150878399	150878399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagccttcggcattgCgggcatcaggacatgccccc	6	7	13	15	2	1	0	1	0	0	0	3	1	2	1	4	4	3	2	4	4	0	2	rs104886476		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:150878399C>T	ENST00000422024.1	-	3	991	c.866G>A	c.(865-867)cGc>cAc	p.R289H	ASB10_ENST00000377867.3_Missense_Mutation_p.R229H|ASB10_ENST00000275838.1_Missense_Mutation_p.R244H|ASB10_ENST00000420175.2_Missense_Mutation_p.R244H|ASB10_ENST00000434669.1_Missense_Mutation_p.R289H	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	244					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)		TTCGGCATTGCGGGCATCAGG	0.657													4	23					0	0	1	0	0	T	150878399	C	T	150878399	3	4	80	1	0	0	0	0	1	0	0	0	1013	768	27	1	684	1	ASB10	7	150878399	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	109562	150878399	8260264	213	1651											
XRCC2	7516	broad.mit.edu	37	chr7	152345797	152345797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgttactttttaaacaaCgtgaaactaatgaaaattgg	17	13	6	5	1	0	2	0	2	0	0	0	2	0	2	0	1	5	1	0	1	9	6	rs149186933		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:152345797C>T	ENST00000359321.1	-	3	858	c.773G>A	c.(772-774)cGt>cAt	p.R258H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	258					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.R258H(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTTTAAACAACGTGAAACTAA	0.333								Homologous recombination					4	47					0	0	1	0	0	T	152345797	C	T	152345797	3	4	80	1	0	0	0	0	1	0	0	0	17513	536	19	1	73	1	XRCC2	7	152345797	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1467398	152345797	6792866	214	1652											
CSMD1	64478	broad.mit.edu	37	chr8	3263583	3263583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtggagctccagaccacGttcccgtcttgcagtatgca	8	9	11	13	3	1	1	0	0	1	1	3	2	3	2	3	2	3	5	3	2	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:3263583G>A	ENST00000602557.1	-	16	2790	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	CSMD1_ENST00000400186.3_Silent_p.N745N|CSMD1_ENST00000539096.1_Silent_p.N744N|CSMD1_ENST00000602723.1_Silent_p.N745N|CSMD1_ENST00000542608.1_Silent_p.N744N|CSMD1_ENST00000520002.1_Silent_p.N745N|CSMD1_ENST00000537824.1_Silent_p.N744N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	745	Sushi 4.					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)		TCCAGACCACGTTCCCGTCTT	0.552													12	20					0	0	1	0	0	A	3263583	G	A	3263583	2	1	80	1	0	0	0	0	0	0	0	1	3969	1136	40	1		1	CSMD1	8	3263583	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		3263583	143100439	215	1653											
SGK223	0	broad.mit.edu	37	chr8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaagagggccccgggctccGcagacgccaggtactggcag	8	4	16	13	3	0	2	0	0	0	2	1	2	1	2	4	4	1	5	4	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1387							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCCGGGCTCCGCAGACGCCAG	0.647													17	15					0	0	1	0	0	A	8175725	G	A	8175725	3	1	80	1	0	0	0	0	1	0	0	0	14264	1087	38	1	52	1	SGK223	8	8175725	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4912142	8175725	138188297	216	1654											
MSR1	0	broad.mit.edu	37	chr8	16012621	16012621	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttctccagtgggacctcGatctcctttttcacccgggg	5	13	9	14	2	3	0	1	0	2	0	6	2	3	1	4	3	0	0	4	3	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:16012621G>A	ENST00000350896.3	-	6	1047	c.850C>T	c.(850-852)Cga>Tga	p.R284*	MSR1_ENST00000262101.5_Nonsense_Mutation_p.R284*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	284	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTGGGACCTCGATCTCCTTTT	0.393													4	50					0	0	1	0	0	A	16012621	G	A	16012621	4	1	80	1	0	0	0	0	0	1	0	0	9934	1066	37	1	573	1	MSR1	8	16012621	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7836896	16012621	130351401	217	1655											
XPO7	23039	broad.mit.edu	37	chr8	21839354	21839354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaactaccctgaggtcatccGattgatagccaacttcacag	13	9	7	12	1	2	2	2	2	0	0	3	3	3	2	3	1	4	0	3	1	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:21839354G>A	ENST00000434536.1	+	10	1199	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	XPO7_ENST00000252512.9_Missense_Mutation_p.R357Q|XPO7_ENST00000433566.4_Missense_Mutation_p.R358Q			Q9UIA9	XPO7_HUMAN	exportin 7	357				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAGGTCATCCGATTGATAGCC	0.423													48	49					0	0	1	0	0	A	21839354	G	A	21839354	3	1	80	1	0	0	0	0	1	0	0	0	17509	1058	37	1	1160	1	XPO7	8	21839354	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5826733	21839354	124524668	218	1656											
CHMP7	91782	broad.mit.edu	37	chr8	23106868	23106868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaggttccagctgaggagGtccttgtcgctgtggagctg	7	11	15	8	1	0	1	0	1	0	0	3	3	2	3	2	4	2	4	2	4	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:23106868G>A	ENST00000397677.1	+	3	1093	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	CHMP7_ENST00000313219.7_Missense_Mutation_p.V149I	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	149					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	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)		AGCTGAGGAGGTCCTTGTCGC	0.557													16	9					0	0	1	0	0	A	23106868	G	A	23106868	3	1	80	1	0	0	0	0	1	0	0	0	3383	1261	44	3	451	3	CHMP7	8	23106868	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1267514	23106868	123257154	219	1657											
GTF2E2	2961	broad.mit.edu	37	chr8	30511073	30511073	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggagtagaaagagctcGttttttgaacagctcccttt	11	13	9	8	1	0	3	0	1	0	2	2	4	1	4	1	1	4	4	1	1	4	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:30511073G>A	ENST00000355904.4	-	2	325	c.43C>T	c.(43-45)Cga>Tga	p.R15*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	15					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GAAAGAGCTCGTTTTTTGAAC	0.378													16	22					0	0	1	0	0	A	30511073	G	A	30511073	4	1	80	1	0	0	0	0	0	1	0	0	6898	1153	40	1	860	1	GTF2E2	8	30511073	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7404205	30511073	115852949	220	1658											
GSR	2936	broad.mit.edu	37	chr8	30541683	30541683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtattctggaattcgtctaCgatgatatgacccttgtcat	9	15	9	8	2	3	2	1	2	2	0	4	4	3	3	1	2	1	1	1	2	4	6	rs138721223		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:30541683C>T	ENST00000221130.5	-	10	1165	c.1075G>A	c.(1075-1077)Gta>Ata	p.V359I	GSR_ENST00000546342.1_Missense_Mutation_p.V330I|GSR_ENST00000414019.1_Missense_Mutation_p.V316I|GSR_ENST00000537535.1_Missense_Mutation_p.V277I|GSR_ENST00000541648.1_Missense_Mutation_p.V306I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	359					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	AATTCGTCTACGATGATATGA	0.423													33	50					0	0	1	0	0	T	30541683	C	T	30541683	3	4	80	1	0	0	0	0	1	0	0	0	6869	536	19	1	509	1	GSR	8	30541683	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30610	30541683	115822339	221	1659											
GPR124	25960	broad.mit.edu	37	chr8	37698635	37698635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgtccaagccttggcGccttctacatccctgtggct	4	12	11	14	2	1	0	0	0	1	0	3	0	3	0	4	3	2	1	4	3	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:37698635G>A	ENST00000315215.7	+	16	2491	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	GPR124_ENST00000412232.2_Missense_Mutation_p.A927T			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	927	GPS.				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)			AAGCCTTGGCGCCTTCTACAT	0.627													7	79					0	0	1	0	0	A	37698635	G	A	37698635	3	1	80	1	0	0	0	0	1	0	0	0	6678	1087	38	1	2832	1	GPR124	8	37698635	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7156952	37698635	108665387	222	1660											
DDHD2	23259	broad.mit.edu	37	chr8	38095674	38095674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacccacggagcagggtcGaccaagaactgtgaagagag	15	3	13	10	2	0	3	0	1	0	2	1	6	0	4	2	2	3	1	2	2	4	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:38095674G>A	ENST00000397166.2	+	5	1094	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	DDHD2_ENST00000520272.2_Missense_Mutation_p.R190Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	190					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAGCAGGGTCGACCAAGAACT	0.398													35	35					0	0	1	0	0	A	38095674	G	A	38095674	3	1	80	1	0	0	0	0	1	0	0	0	4350	1058	37	1	583	1	DDHD2	8	38095674	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	397039	38095674	108268348	223	1661											
ANK1	286	broad.mit.edu	37	chr8	41550657	41550657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggtgaagttggcgcactCgttggcatatacaagtttgg	8	12	15	6	2	0	1	0	1	0	0	1	1	0	1	0	5	1	5	0	5	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:41550657C>T	ENST00000396942.1	-	30	3678	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K	ANK1_ENST00000265709.8_Missense_Mutation_p.E1240K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1199K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1199K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1199K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1199K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1199K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1199					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)			TTGGCGCACTCGTTGGCATAT	0.572													3	47					0	0	1	0	0	T	41550657	C	T	41550657	3	4	80	1	0	0	0	0	1	0	0	0	616	893	31	1	2428	1	ANK1	8	41550657	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3454983	41550657	104813365	224	1662											
XKR4	114786	broad.mit.edu	37	chr8	56436530	56436530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatcagaaattcgcagagcGggatgggtgtgtacctgtct	9	10	14	8	3	2	2	1	0	1	2	3	4	2	3	1	2	2	2	1	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:56436530G>A	ENST00000327381.6	+	3	1797	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane		p.R566Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTCGCAGAGCGGGATGGGTGT	0.552													3	34					0	0	1	0	0	A	56436530	G	A	56436530	3	1	80	1	0	0	0	0	1	0	0	0	17493	1116	39	1	1707	1	XKR4	8	56436530	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14885873	56436530	89927492	225	1663											
GRHL2	79977	broad.mit.edu	37	chr8	102570889	102570889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgtgcactatccccGgggagatggggaagagcaac	10	5	13	13	1	0	2	0	0	0	2	1	4	1	3	4	4	3	2	4	4	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:102570889G>A	ENST00000251808.3	+	4	865	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	GRHL2_ENST00000395927.1_Missense_Mutation_p.R160Q	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	176						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CACTATCCCCGGGGAGATGGG	0.567													13	34					0	0	1	0	0	A	102570889	G	A	102570889	3	1	80	1	0	0	0	0	1	0	0	0	6805	1116	39	1	541	1	GRHL2	8	102570889	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	46134359	102570889	43793133	226	1664											
EXT1	2131	broad.mit.edu	37	chr8	118819560	118819560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaagtggctgcgcgcGgggtaccccacaatcctctc	7	7	11	16	3	1	1	0	0	1	1	4	1	3	1	4	3	2	2	4	3	3	1	rs143881630	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:118819560G>A	ENST00000378204.2	-	9	2585	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	593					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	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase 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)			GGCTGCGCGCGGGGTACCCCA	0.527			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				8	29					0	0	1	0	0	A	118819560	G	A	118819560	2	1	80	1	0	0	0	0	0	0	0	1	5351	1103	39	1		1	EXT1	8	118819560	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16248671	118819560	27544462	227	1665											
TG	7038	broad.mit.edu	37	chr8	133920513	133920513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtgcagtgctgactaCgcggatttgctgcagacttt	9	12	12	8	2	0	3	0	1	0	2	0	4	0	4	0	1	5	4	0	1	2	3	rs143023529		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:133920513C>T	ENST00000220616.4	+	18	3970	c.3930C>T	c.(3928-3930)taC>taT	p.Y1310Y	TG_ENST00000377869.1_Silent_p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1310					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)		GTGCTGACTACGCGGATTTGC	0.597													3	44					0	0	1	0	0	T	133920513	C	T	133920513	2	4	80	1	0	0	0	0	0	0	0	1	15873	547	19	1		1	TG	8	133920513	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15100953	133920513	12443509	228	1666											
WISP1	8840	broad.mit.edu	37	chr8	134225300	134225300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttggggacaactgcaCggaggctgccatctgtgacc	8	7	14	12	1	1	1	0	1	1	0	1	3	1	3	2	4	4	4	2	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:134225300C>T	ENST00000250160.6	+	2	369	c.263C>T	c.(262-264)aCg>aTg	p.T88M	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T88M|WISP1_ENST00000517423.1_Missense_Mutation_p.T88M	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			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)			GACAACTGCACGGAGGCTGCC	0.637													5	35					0	0	1	0	0	T	134225300	C	T	134225300	3	4	80	1	0	0	0	0	1	0	0	0	17432	536	19	1	269	1	WISP1	8	134225300	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	304787	134225300	12138722	229	1667											
COL22A1	169044	broad.mit.edu	37	chr8	139767423	139767423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggaggaccgggggCgccttggtgacctctgggtc	4	8	17	12	2	1	1	0	1	1	0	3	3	2	3	4	6	1	1	4	6	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:139767423C>T	ENST00000303045.6	-	21	2454	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A670T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	670	Collagen-like 4.|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)			GGACCGGGGGCGCCTTGGTGA	0.552										HNSCC(7;0.00092)			17	28					0	0	1	0	0	T	139767423	C	T	139767423	3	4	80	1	0	0	0	0	1	0	0	0	3704	768	27	1	3052	1	COL22A1	8	139767423	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5542123	139767423	6596599	230	1668											
EPPK1	83481	broad.mit.edu	37	chr8	144945210	144945210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccacgtccacgggcaCgcggtggctgtgcacggggt	5	6	18	12	5	0	0	0	0	0	0	1	0	1	0	2	6	1	4	2	6	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:144945210C>T	ENST00000525985.1	-	2	2283	c.2212G>A	c.(2212-2214)Gtg>Atg	p.V738M				P58107	EPIPL_HUMAN	epiplakin 1	738						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)			TCCACGGGCACGCGGTGGCTG	0.657													7	64					0	0	1	0	0	T	144945210	C	T	144945210	3	4	80	1	0	0	0	0	1	0	0	0	5218	536	19	1	5054	1	EPPK1	8	144945210	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5177787	144945210	1418812	231	1669											
PLEC	5339	broad.mit.edu	37	chr8	144990788	144990788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcacgcggcccggcgtgtCgggctcgatcaagccgccgg	4	4	18	15	8	1	0	1	0	0	0	3	1	1	0	3	5	1	2	3	5	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:144990788C>T	ENST00000322810.4	-	32	13781	c.13612G>A	c.(13612-13614)Gac>Aac	p.D4538N	PLEC_ENST00000357649.2_Missense_Mutation_p.D4405N|PLEC_ENST00000356346.3_Missense_Mutation_p.D4387N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4424N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4379N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4428N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4369N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4401N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4401N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4538	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						CCCGGCGTGTCGGGCTCGATC	0.706													17	17					0	0	1	0	0	T	144990788	C	T	144990788	3	4	80	1	0	0	0	0	1	0	0	0	12100	884	31	1	446	1	PLEC	8	144990788	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	45578	144990788	1373234	232	1670											
FREM1	158326	broad.mit.edu	37	chr9	14776080	14776080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggggaaagcaggcccaCggccccttgggccagtctca	8	5	14	14	1	2	0	2	0	1	0	3	1	2	1	4	5	1	1	4	5	1	1	rs61735747	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:14776080C>T	ENST00000380881.4	-	26	5382	c.4567G>A	c.(4567-4569)Gtg>Atg	p.V1523M	FREM1_ENST00000380894.1_Missense_Mutation_p.V58M|FREM1_ENST00000380880.3_Missense_Mutation_p.V1522M|FREM1_ENST00000422223.2_Missense_Mutation_p.V1522M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1522					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V1523M(1)		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)		AGCAGGCCCACGGCCCCTTGG	0.617													12	58					0	0	1	0	0	T	14776080	C	T	14776080	3	4	80	1	0	0	0	0	1	0	0	0	6079	536	19	1	2027	1	FREM1	9	14776080	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		14776080	126437351	233	1671											
DCAF12	25853	broad.mit.edu	37	chr9	34093293	34093293	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactcttaccactgcctcGctccctggaacagacagact	9	8	9	15	1	1	2	0	0	1	2	3	4	2	4	3	2	3	1	3	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:34093293G>A	ENST00000361264.4	-	7	1356	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	339						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCACTGCCTCGCTCCCTGGAA	0.502													21	28					0	0	1	0	0	A	34093293	G	A	34093293	4	1	80	1	0	0	0	0	0	1	0	0	4287	1095	38	1	358	1	DCAF12	9	34093293	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19317213	34093293	107120138	234	1672											
FRMPD1	22844	broad.mit.edu	37	chr9	37746714	37746714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcagtgcacggccctcaCggccgccgtgttctgtttga	4	10	12	15	5	3	1	2	1	1	0	3	1	3	1	4	2	1	3	4	2	0	2	rs138292555	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:37746714C>T	ENST00000539465.1	+	16	5278	c.4685C>T	c.(4684-4686)aCg>aTg	p.T1562M	FRMPD1_ENST00000377765.3_Missense_Mutation_p.T1562M|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1562						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)		ACGGCCCTCACGGCCGCCGTG	0.592													7	100					0	0	1	0	0	T	37746714	C	T	37746714	3	4	80	1	0	0	0	0	1	0	0	0	6092	536	19	1	4743	1	FRMPD1	9	37746714	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3653421	37746714	103466717	235	1673											
GNAQ	2776	broad.mit.edu	37	chr9	80412493	80412493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatccctgtggtggggactCgaactctaagcacatcttgt	8	12	11	10	1	2	1	0	1	2	0	4	3	3	2	1	3	2	1	1	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:80412493C>T	ENST00000286548.4	-	4	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.R183Q(9)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GGTGGGGACTCGAACTCTAAG	0.468			Mis		uveal melanoma								4	52					0	0	1	0	0	T	80412493	C	T	80412493	3	4	80	1	0	0	0	0	1	0	0	0	6551	884	31	1	547	1	GNAQ	9	80412493	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	42665779	80412493	60800938	236	1674											
DAPK1	1612	broad.mit.edu	37	chr9	90219978	90219978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccggcggggtgtgagcCgcgaggacatcgagcgggag	7	3	20	11	6	0	1	0	1	0	0	1	5	0	3	3	5	3	0	3	5	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:90219978C>T	ENST00000469640.2	+	3	547	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	DAPK1_ENST00000472284.1_Missense_Mutation_p.R58C|DAPK1_ENST00000408954.3_Missense_Mutation_p.R58C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R58C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R58C			P53355	DAPK1_HUMAN	death-associated protein kinase 1	58	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.R58C(2)		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						GGGTGTGAGCCGCGAGGACAT	0.562									Chronic Lymphocytic Leukemia, Familial Clustering of				8	12					0	0	1	0	0	T	90219978	C	T	90219978	3	4	80	1	0	0	0	0	1	0	0	0	4259	652	23	1	178	1	DAPK1	9	90219978	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9807485	90219978	50993453	237	1675											
DAPK1	1612	broad.mit.edu	37	chr9	90321557	90321557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctgctggtcaaccacGgccagggcattgaggtccag	7	8	15	11	1	1	1	1	1	0	0	2	1	2	1	3	5	3	3	3	5	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:90321557G>A	ENST00000469640.2	+	27	4021	c.3646G>A	c.(3646-3648)Ggc>Agc	p.G1216S	DAPK1_ENST00000472284.1_Missense_Mutation_p.G1191S|DAPK1_ENST00000408954.3_Missense_Mutation_p.G1191S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1191S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1125S			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1191					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						GGTCAACCACGGCCAGGGCAT	0.642									Chronic Lymphocytic Leukemia, Familial Clustering of				13	7					0	0	1	0	0	A	90321557	G	A	90321557	3	1	80	1	0	0	0	0	1	0	0	0	4259	1116	39	1	3669	1	DAPK1	9	90321557	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	101579	90321557	50891874	238	1676											
ZNF367	195828	broad.mit.edu	37	chr9	99157146	99157146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccggtgtgaagaCgctgatgtgttttgagctgt	5	16	13	7	2	1	4	0	3	1	1	3	4	2	4	1	1	1	4	1	1	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:99157146C>T	ENST00000375256.4	-	3	946	c.650G>A	c.(649-651)cGt>cAt	p.R217H		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGTGAAGACGCTGATGTGT	0.388													21	31					0	0	1	0	0	T	99157146	C	T	99157146	3	4	80	1	0	0	0	0	1	0	0	0	17928	536	19	1	414	1	ZNF367	9	99157146	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8835589	99157146	42056285	239	1677											
FKTN	2218	broad.mit.edu	37	chr9	108366571	108366571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagatccccggctagacGggatagactcactctctgga	11	8	11	11	2	2	3	1	0	1	3	4	5	3	5	2	3	0	2	2	3	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:108366571G>A	ENST00000223528.2	+	5	569	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	FKTN_ENST00000357998.5_Missense_Mutation_p.G149R|FKTN_ENST00000540160.1_Missense_Mutation_p.G149R|FKTN_ENST00000448551.2_Missense_Mutation_p.G149R|FKTN_ENST00000602661.1_Missense_Mutation_p.G149R	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	149					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CCGGCTAGACGGGATAGACTC	0.468													46	39					0	0	1	0	0	A	108366571	G	A	108366571	3	1	80	1	0	0	0	0	1	0	0	0	5952	1116	39	1	459	1	FKTN	9	108366571	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9209425	108366571	32846860	240	1678											
RAD23B	5887	broad.mit.edu	37	chr9	110084367	110084367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagctgcagcaactaCgacagcaacaactacaacaa	16	4	8	13	1	0	0	0	0	0	0	0	1	0	0	0	1	11	6	0	1	7	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:110084367C>T	ENST00000358015.3	+	7	1136	c.785C>T	c.(784-786)aCg>aTg	p.T262M	RAD23B_ENST00000416373.2_Missense_Mutation_p.T190M	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	262	Poly-Thr.				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	cytoplasm|nucleoplasm|proteasome complex|XPC 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						GCAGCAACTACGACAGCAACA	0.488								Direct reversal of damage;Nucleotide excision repair (NER)					7	51					0	0	1	0	0	T	110084367	C	T	110084367	3	4	80	1	0	0	0	0	1	0	0	0	13035	536	19	1	811	1	RAD23B	9	110084367	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1717796	110084367	31129064	241	1679											
KIAA1958	158405	broad.mit.edu	37	chr9	115421680	115421680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctgaagaatgcaggtgtCggcttttccatcaccagcag	10	10	10	11	1	1	2	1	1	0	1	4	2	3	2	3	2	2	3	3	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:115421680C>T	ENST00000337530.6	+	4	1778	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	KIAA1958_ENST00000536272.1_Silent_p.V522V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	494										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGCAGGTGTCGGCTTTTCCA	0.582													10	24					0	0	1	0	0	T	115421680	C	T	115421680	2	4	80	1	0	0	0	0	0	0	0	1	8306	871	31	1		1	KIAA1958	9	115421680	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5337313	115421680	25791751	242	1680											
OR5C1	392391	broad.mit.edu	37	chr9	125551867	125551867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacggtgttagctatcaCggtgtcttatggcttcatcg	7	13	11	10	3	3	0	2	0	1	0	4	0	3	0	1	3	2	3	1	3	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:125551867C>T	ENST00000373680.2	+	1	718	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TTAGCTATCACGGTGTCTTAT	0.597													19	31					0	0	1	0	0	T	125551867	C	T	125551867	3	4	80	1	0	0	0	0	1	0	0	0	11200	536	19	1	658	1	OR5C1	9	125551867	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10130187	125551867	15661564	243	1681											
LRRC8A	56262	broad.mit.edu	37	chr9	131670351	131670351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacattgagagcctgaCgggctaccgcacctaccgct	8	7	12	14	4	0	2	0	2	0	1	0	4	0	3	4	2	3	3	4	2	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:131670351C>T	ENST00000259324.5	+	3	1431	c.908C>T	c.(907-909)aCg>aTg	p.T303M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T303M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T303M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	303					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						GAGAGCCTGACGGGCTACCGC	0.547													38	46					0	0	1	0	0	T	131670351	C	T	131670351	3	4	80	1	0	0	0	0	1	0	0	0	9066	536	19	1	910	1	LRRC8A	9	131670351	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6118484	131670351	9543080	244	1682											
LRRC8A	56262	broad.mit.edu	37	chr9	131670589	131670589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctcattgaccaataCgacccgctctactccaagcg	10	8	6	17	3	2	1	1	1	1	0	3	2	3	1	4	0	4	2	4	0	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:131670589C>T	ENST00000259324.5	+	3	1669	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	LRRC8A_ENST00000372599.3_Silent_p.Y382Y|LRRC8A_ENST00000372600.4_Silent_p.Y382Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	382					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						TTGACCAATACGACCCGCTCT	0.562													20	40					0	0	1	0	0	T	131670589	C	T	131670589	2	4	80	1	0	0	0	0	0	0	0	1	9066	547	19	1		1	LRRC8A	9	131670589	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	238	131670589	9542842	245	1683											
COL5A1	1289	broad.mit.edu	37	chr9	137697060	137697060	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccaccaggccctgcGgtgagtcaaagcctttgtcc	6	8	11	16	1	1	1	1	1	0	0	2	1	2	1	6	3	2	0	6	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:137697060G>A	ENST00000371817.3	+	41	3672	c.3258G>A	c.(3256-3258)gcG>gcA	p.A1086A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1086	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)		CAGGCCCTGCGGTGAGTCAAA	0.602													19	21					0	0	1	0	0	A	137697060	G	A	137697060	5	1	80	1	0	0	0	0	0	0	1	0	3719	1130	39	1	3420	1	COL5A1	9	137697060	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6026471	137697060	3516371	246	1684											
COL5A1	1289	broad.mit.edu	37	chr9	137712052	137712052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccccagggctcctccGgtcctaagggagaacaggtg	7	6	14	14	1	0	1	0	0	0	1	3	2	3	1	5	5	1	1	5	5	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:137712052G>A	ENST00000371817.3	+	58	4951	c.4537G>A	c.(4537-4539)Ggt>Agt	p.G1513S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1513	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)		GGGCTCCTCCGGTCCTAAGGG	0.637													7	24					0	0	1	0	0	A	137712052	G	A	137712052	3	1	80	1	0	0	0	0	1	0	0	0	3719	1116	39	1	4767	1	COL5A1	9	137712052	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14992	137712052	3501379	247	1685											
KCNT1	57582	broad.mit.edu	37	chr9	138651621	138651621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttctccaccgtgggctaCggtgacgtcacgcccaagat	8	8	10	15	4	2	2	1	1	1	1	3	2	2	2	4	2	1	1	4	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:138651621C>T	ENST00000298480.5	+	11	1025	c.951C>T	c.(949-951)taC>taT	p.Y317Y	KCNT1_ENST00000371757.2_Silent_p.Y317Y|KCNT1_ENST00000263604.3_Silent_p.Y298Y|KCNT1_ENST00000488444.2_Silent_p.Y298Y|KCNT1_ENST00000486577.2_Silent_p.Y278Y|KCNT1_ENST00000490355.2_Silent_p.Y298Y|KCNT1_ENST00000491806.2_Silent_p.Y284Y|KCNT1_ENST00000487664.1_Silent_p.Y272Y			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	317						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGTGGGCTACGGTGACGTCA	0.642													19	14					0	0	1	0	0	T	138651621	C	T	138651621	2	4	80	1	0	0	0	0	0	0	0	1	8135	547	19	1		1	KCNT1	9	138651621	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	939569	138651621	2561810	248	1686											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713079	138713079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggtccgtgggcgtcCgagggtggctgctggcaggg	3	6	22	10	3	0	0	0	0	0	0	2	1	2	0	3	7	1	3	3	7	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:138713079C>T	ENST00000389532.4	-	11	3492	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1154Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R865Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1143						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)		CGTGGGCGTCCGAGGGTGGCT	0.607													31	31					0	0	1	0	0	T	138713079	C	T	138713079	3	4	80	1	0	0	0	0	1	0	0	0	2629	652	23	1	1408	1	CAMSAP1	9	138713079	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	61458	138713079	2500352	249	1687											
SEC16A	9919	broad.mit.edu	37	chr9	139371003	139371003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggggcacagccagacccGgccccagcccccagtgggtg	7	2	15	17	2	0	1	0	0	0	1	0	1	0	1	6	4	3	1	6	4	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:139371003G>A	ENST00000313050.7	-	1	1138	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	SEC16A_ENST00000431893.2_Silent_p.A177A|SEC16A_ENST00000290037.6_Silent_p.A177A|SEC16A_ENST00000371706.3_Silent_p.A177A	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	177					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi 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)		AGCCAGACCCGGCCCCAGCCC	0.602													7	13					0	0	1	0	0	A	139371003	G	A	139371003	2	1	80	1	0	0	0	0	0	0	0	1	14040	1103	39	1		1	SEC16A	9	139371003	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	657924	139371003	1842428	250	1688											
SLC34A3	142680	broad.mit.edu	37	chr9	140127061	140127061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctgcgccgcgtggcCggcagcgtcctcaaggcctg	4	5	17	15	5	1	0	1	0	0	0	2	0	2	0	4	5	2	3	4	5	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:140127061C>T	ENST00000538474.1	+	4	434	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SLC34A3_ENST00000361134.2_Silent_p.A70A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	70					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCGCGTGGCCGGCAGCGTCC	0.697													6	69					0	0	1	0	0	T	140127061	C	T	140127061	2	4	80	1	0	0	0	0	0	0	0	1	14624	639	23	1		1	SLC34A3	9	140127061	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	756058	140127061	1086370	251	1689											
KIAA1217	56243	broad.mit.edu	37	chr10	24810824	24810824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtctcctgaagcgtgtgCgcagcatgacagacgtcctg	9	8	12	12	3	1	3	0	2	1	1	3	3	2	3	2	0	3	2	2	0	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:24810824C>T	ENST00000376451.2	+	7	1731	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	KIAA1217_ENST00000376462.1_Missense_Mutation_p.R728C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R808C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R773C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R491C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R773C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000430453.2_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	808					embryonic skeletal system development	cytoplasm				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						GAAGCGTGTGCGCAGCATGAC	0.612													18	21					0	0	1	0	0	T	24810824	C	T	24810824	3	4	80	1	0	0	0	0	1	0	0	0	8258	768	27	1	2468	1	KIAA1217	10	24810824	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		24810824	110723923	252	1690											
KIAA1462	57608	broad.mit.edu	37	chr10	30318556	30318556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttggcaggacctgacattCgcaattcttcttcccaaact	10	12	6	13	1	2	1	0	1	2	0	4	2	3	2	2	2	1	2	2	2	2	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:30318556C>T	ENST00000375377.1	-	3	622	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	174										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547													13	141					0	0	1	0	0	T	30318556	C	T	30318556	3	4	80	1	0	0	0	0	1	0	0	0	8276	884	31	1	3566	1	KIAA1462	10	30318556	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5507732	30318556	105216191	253	1691											
PARD3	56288	broad.mit.edu	37	chr10	34648125	34648125	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataagctggatcattcctcGtttattgccttcagtagaca	11	14	7	9	1	2	1	2	0	0	1	4	2	3	2	2	1	2	3	2	1	4	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:34648125G>A	ENST00000374789.3	-	14	2342	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	PARD3_ENST00000374768.1_Nonsense_Mutation_p.R111*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R616*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R660*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R673*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R673*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.R390*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R673*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R673*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	673	PDZ 3.				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			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)				ATCATTCCTCGTTTATTGCCT	0.378													29	61					0	0	1	0	0	A	34648125	G	A	34648125	4	1	80	1	0	0	0	0	0	1	0	0	11490	1153	40	1	2136	1	PARD3	10	34648125	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4329569	34648125	100886622	254	1692											
RET	5979	broad.mit.edu	37	chr10	43597982	43597982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctccttccgcattcGggagaaccgacccccaggca	9	5	10	17	3	0	1	0	0	0	1	3	3	2	1	6	3	1	2	6	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:43597982G>A	ENST00000355710.3	+	3	762	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RET_ENST00000340058.5_Missense_Mutation_p.R177Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	177	Cadherin.				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)	TTCCGCATTCGGGAGAACCGA	0.617		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				4	28					0	0	1	0	0	A	43597982	G	A	43597982	3	1	80	1	0	0	0	0	1	0	0	0	13287	1116	39	1	540	1	RET	10	43597982	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8949857	43597982	91936765	255	1693											
CCAR1	55749	broad.mit.edu	37	chr10	70516034	70516034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccttgcaacaggtacCgttttgcagagattcgctac	8	13	8	12	2	1	1	0	0	1	1	3	2	2	1	2	1	5	5	2	1	3	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:70516034C>T	ENST00000265872.6	+	14	1749	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C	CCAR1_ENST00000543719.1_Missense_Mutation_p.R529C|CCAR1_ENST00000535016.1_Missense_Mutation_p.R529C|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	544					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAACAGGTACCGTTTTGCAGA	0.423													3	25					0	0	1	0	0	T	70516034	C	T	70516034	3	4	80	1	0	0	0	0	1	0	0	0	2748	652	23	1	1680	1	CCAR1	10	70516034	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26918052	70516034	65018713	256	1694											
ZNF503	84858	broad.mit.edu	37	chr10	77158605	77158605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcaccggcacgggggCgccaggcgtgggaagcgggc	5	1	23	12	6	0	0	0	0	0	0	0	1	0	1	2	8	1	2	2	8	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:77158605C>T	ENST00000372524.4	-	2	2329	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	ZNF503_ENST00000535216.1_Missense_Mutation_p.A615T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	615					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)					GGCACGGGGGCGCCAGGCGTG	0.726													4	7					0	0	1	0	0	T	77158605	C	T	77158605	3	4	80	1	0	0	0	0	1	0	0	0	18008	768	27	1	101	1	ZNF503	10	77158605	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6642571	77158605	58376142	257	1695											
KCNMA1	3778	broad.mit.edu	37	chr10	78651328	78651328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagctaactgggccacGcggcagcggtccctattggc	8	6	14	13	3	0	1	0	0	0	1	1	1	1	1	2	4	4	3	2	4	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:78651328G>A	ENST00000286627.5	-	25	4075	c.3123C>T	c.(3121-3123)cgC>cgT	p.R1041R	KCNMA1_ENST00000354353.5_Silent_p.R1102R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.R1068R|KCNMA1_ENST00000406533.3_Silent_p.R1103R|KCNMA1_ENST00000372440.1_Silent_p.R1041R|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.R1099R|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.R1099R|KCNMA1_ENST00000404857.1_Silent_p.R1082R|RP11-443A13.5_ENST00000595702.1_RNA	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1099	Segment S10.				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			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)	ACTGGGCCACGCGGCAGCGGT	0.607													11	16					0	0	1	0	0	A	78651328	G	A	78651328	2	1	80	1	0	0	0	0	0	0	0	1	8117	1074	38	1		1	KCNMA1	10	78651328	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1492723	78651328	56883419	258	1696											
MYOF	26509	broad.mit.edu	37	chr10	95119637	95119637	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatctttcttgcgttttcGgaccagccttcgccgtctat	6	16	7	12	4	3	0	0	0	3	0	5	1	3	1	3	1	2	1	3	1	3	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:95119637G>A	ENST00000371501.4	-	29	3195	c.3073C>T	c.(3073-3075)Cga>Tga	p.R1025*	MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1012*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.R1025*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1025*			Q9NZM1	MYOF_HUMAN	myoferlin	1025					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						TTGCGTTTTCGGACCAGCCTT	0.512													18	68					0	0	1	0	0	A	95119637	G	A	95119637	4	1	80	1	0	0	0	0	0	1	0	0	10137	1124	39	1	3216	1	MYOF	10	95119637	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16468309	95119637	40415110	259	1697											
ANKRD2	26287	broad.mit.edu	37	chr10	99343422	99343422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccgggggctgagcataaCgggctggaggggcctaatga	9	5	19	8	2	0	2	0	2	0	0	0	4	0	3	2	6	3	3	2	6	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:99343422C>T	ENST00000307518.5	+	9	1290	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	ANKRD2_ENST00000298808.5_Silent_p.N308N|ANKRD2_ENST00000370655.1_Silent_p.N314N|ANKRD2_ENST00000455090.1_Silent_p.N281N			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	341					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CTGAGCATAACGGGCTGGAGG	0.677													3	10					0	0	1	0	0	T	99343422	C	T	99343422	2	4	80	1	0	0	0	0	0	0	0	1	643	535	19	1		1	ANKRD2	10	99343422	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4223785	99343422	36191325	260	1698											
PI4K2A	55361	broad.mit.edu	37	chr10	99416154	99416154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttggacagcggtttaaccGcatcgggctaccaccaaagg	11	7	12	11	3	0	0	0	0	0	0	1	1	0	1	3	4	3	4	3	4	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:99416154G>A	ENST00000370631.3	+	3	806	c.749G>A	c.(748-750)cGc>cAc	p.R250H	PI4K2A_ENST00000555577.1_Missense_Mutation_p.R220H|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R220H	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	250	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGTTTAACCGCATCGGGCTA	0.498													9	27					0	0	1	0	0	A	99416154	G	A	99416154	3	1	80	1	0	0	0	0	1	0	0	0	11919	1087	38	1	759	1	PI4K2A	10	99416154	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	72732	99416154	36118593	261	1699											
SLC25A28	81894	broad.mit.edu	37	chr10	101370891	101370891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagctacagctcctgcGcaagctccagagaggacgtg	9	5	14	13	3	0	1	0	0	0	1	2	3	2	2	2	2	5	5	2	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:101370891G>A	ENST00000370495.4	-	4	838	c.810C>T	c.(808-810)tgC>tgT	p.C270C	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	270					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGCTCCTGCGCAAGCTCCAG	0.537													11	40					0	0	1	0	0	A	101370891	G	A	101370891	2	1	80	1	0	0	0	0	0	0	0	1	14546	1079	38	1		1	SLC25A28	10	101370891	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1954737	101370891	34163856	262	1700											
CYP17A1	1586	broad.mit.edu	37	chr10	104592367	104592367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaggagacggttaCggtcactgatagttggtgtg	9	9	16	7	2	1	2	1	1	0	1	1	4	1	3	1	5	2	3	1	5	2	3	rs61754278		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:104592367C>T	ENST00000369887.3	-	6	1211	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	347			R -> C (in AH5).|R -> H (in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity).		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)	GAGACGGTTACGGTCACTGAT	0.572													19	54					0	0	1	0	0	T	104592367	C	T	104592367	3	4	80	1	0	0	0	0	1	0	0	0	4170	536	19	1	498	1	CYP17A1	10	104592367	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3221476	104592367	30942380	263	1701											
VWA2	340706	broad.mit.edu	37	chr10	116048825	116048825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaggtgaaccctgacGtgacacaggtcggcctggtg	8	9	15	9	2	0	4	0	4	0	0	1	4	0	4	2	4	1	1	2	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:116048825G>A	ENST00000603594.1	+	12	2020	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M	VWA2_ENST00000392982.3_Missense_Mutation_p.V567M	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	567	VWFA 3.					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)		GAACCCTGACGTGACACAGGT	0.592													16	13					0	0	1	0	0	A	116048825	G	A	116048825	3	1	80	1	0	0	0	0	1	0	0	0	17299	1145	40	1	1741	1	VWA2	10	116048825	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11456458	116048825	19485922	264	1702											
INPP5F	22876	broad.mit.edu	37	chr10	121551527	121551527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcactggggagagggaCggtcggcccctctggcagaa	9	4	17	11	2	1	3	0	0	1	3	2	5	1	4	2	6	1	2	2	6	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:121551527C>T	ENST00000361976.2	+	5	757	c.591C>T	c.(589-591)gaC>gaT	p.D197D	INPP5F_ENST00000369081.1_Silent_p.D101D|INPP5F_ENST00000369083.3_Silent_p.D197D	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	197	SAC.						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)		GGGAGAGGGACGGTCGGCCCC	0.502													29	49					0	0	1	0	0	T	121551527	C	T	121551527	2	4	80	1	0	0	0	0	0	0	0	1	7802	535	19	1		1	INPP5F	10	121551527	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5502702	121551527	13983220	265	1703											
CHST15	51363	broad.mit.edu	37	chr10	125805354	125805354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgtcacttgggttttcGctgtccatcaagctggggtt	4	17	12	8	1	2	0	2	0	0	0	4	0	3	0	1	3	1	4	1	3	1	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:125805354G>A	ENST00000346248.5	-	2	1017	c.375C>T	c.(373-375)agC>agT	p.S125S	CHST15_ENST00000421115.1_Silent_p.S125S|CHST15_ENST00000435907.1_Silent_p.S125S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	125					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTGGGTTTTCGCTGTCCATCA	0.438													6	92					0	0	1	0	0	A	125805354	G	A	125805354	2	1	80	1	0	0	0	0	0	0	0	1	3425	1078	38	1		1	CHST15	10	125805354	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4253827	125805354	9729393	266	1704											
DPYSL4	10570	broad.mit.edu	37	chr10	134008389	134008389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggtgtgagcctgctggcGgcctacgagcagtggcggga	6	6	19	10	4	0	1	0	1	0	0	0	3	0	2	2	5	4	2	2	5	1	1	rs138714632	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:134008389G>A	ENST00000338492.4	+	4	518	c.354G>A	c.(352-354)gcG>gcA	p.A118A	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.A41A|DPYSL4_ENST00000368629.1_Silent_p.A41A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	118					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCCTGCTGGCGGCCTACGAGC	0.662													17	27					0	0	1	0	0	A	134008389	G	A	134008389	2	1	80	1	0	0	0	0	0	0	0	1	4775	1103	39	1		1	DPYSL4	10	134008389	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8203035	134008389	1526358	267	1705											
MUC2	4583	broad.mit.edu	37	chr11	1095811	1095811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtcgaggaccccgacGgctgctgctggcactgggag	5	6	17	13	5	0	0	0	0	0	0	1	4	0	2	2	4	3	4	2	4	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:1095811G>A	ENST00000441003.2	+	33	6349	c.6322G>A	c.(6322-6324)Ggc>Agc	p.G2108S	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.G246S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4470						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)	GGACCCCGACGGCTGCTGCTG	0.701													3	16					0	0	1	0	0	A	1095811	G	A	1095811	3	1	80	1	0	0	0	0	1	0	0	0	10023	1116	39	1	6444	1	MUC2	11	1095811	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		1095811	133910705	268	1706											
TNNT3	7140	broad.mit.edu	37	chr11	1950366	1950366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaccgcagaggaggaCgcggaaggtaagggcccgtc	12	2	17	10	4	0	2	0	0	0	2	1	6	0	5	2	5	0	2	2	5	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:1950366C>T	ENST00000278317.6	+	7	318	c.99C>T	c.(97-99)gaC>gaT	p.D33D	TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000397301.1_Silent_p.D44D|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381548.3_Silent_p.D35D|TNNT3_ENST00000381558.1_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					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)		CAGAGGAGGACGCGGAAGGTA	0.667													12	45					0	0	1	0	0	T	1950366	C	T	1950366	2	4	80	1	0	0	0	0	0	0	0	1	16392	535	19	1		1	TNNT3	11	1950366	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	854555	1950366	133056150	269	1707											
TH	7054	broad.mit.edu	37	chr11	2185559	2185559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggctgtccagcacgtcGatggccagcgtgtacgggtc	5	8	17	11	4	0	0	0	0	0	0	3	1	1	0	2	4	3	3	2	4	1	1	rs118175546	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:2185559G>A	ENST00000381178.1	-	14	1509	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	TH_ENST00000352909.3_Silent_p.I466I|TH_ENST00000381175.1_Silent_p.I493I|TH_ENST00000333684.5_Silent_p.I376I	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	497					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAGCACGTCGATGGCCAGCG	0.667													13	16					0	0	1	0	0	A	2185559	G	A	2185559	2	1	80	1	0	0	0	0	0	0	0	1	15898	1048	37	1		1	TH	11	2185559	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	235193	2185559	132820957	270	1708											
PPFIBP2	8495	broad.mit.edu	37	chr11	7652162	7652162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaatgcttgcagggccttCggagagaactctctcaatca	10	11	9	11	1	3	1	2	0	1	1	5	3	3	2	1	2	3	2	1	2	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:7652162C>T	ENST00000299492.4	+	11	1359	c.971C>T	c.(970-972)tCg>tTg	p.S324L	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S166L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S212L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S181L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	324					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGGGCCTTCGGAGAGAACT	0.388													20	46					0	0	1	0	0	T	7652162	C	T	7652162	3	4	80	1	0	0	0	0	1	0	0	0	12359	893	31	1	1009	1	PPFIBP2	11	7652162	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5466603	7652162	127354354	271	1709											
MRVI1	10335	broad.mit.edu	37	chr11	10648057	10648057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctcaactggaggaggaCgaggagccagcctgccctga	10	6	13	12	1	1	1	1	1	1	0	2	6	1	5	3	4	4	0	3	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:10648057C>T	ENST00000547195.1	-	8	1051	c.551G>A	c.(550-552)cGt>cAt	p.R184H	MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.R266H|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R275H|MRVI1_ENST00000527509.2_Missense_Mutation_p.R184H|MRVI1_ENST00000552103.1_Missense_Mutation_p.R184H|MRVI1_ENST00000531107.1_Missense_Mutation_p.R267H|MRVI1_ENST00000436272.1_Missense_Mutation_p.R248H	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	248					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGAGGAGGACGAGGAGCCAG	0.522													8	6					0	0	1	0	0	T	10648057	C	T	10648057	3	4	80	1	0	0	0	0	1	0	0	0	9902	536	19	1	1966	1	MRVI1	11	10648057	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2995895	10648057	124358459	272	1710											
USH1C	10083	broad.mit.edu	37	chr11	17542436	17542436	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactttggcttgcgaaggggTactgggtgtacctcagcagt	7	11	14	9	1	1	0	1	0	0	0	1	1	1	0	1	4	4	4	1	4	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:17542436T>G	ENST00000005226.7	-	14	1190	c.1191A>C	c.(1189-1191)gtA>gtC	p.V397V	USH1C_ENST00000527020.1_Silent_p.V378V|USH1C_ENST00000527720.1_Silent_p.V366V|USH1C_ENST00000318024.4_Silent_p.V397V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	397					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGCGAAGGGGTACTGGGTGTA	0.517													10	140					0	0	1	0	0	G	17542436	T	G	17542436	2	3	80	1	0	0	0	0	0	0	0	1	17094	1625	57	5		5	USH1C	11	17542436	Silent	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	6894379	17542436	117464080	273	1711											
KCNC1	3746	broad.mit.edu	37	chr11	17793391	17793391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttacctacatcgagggCgtctgtgtggtctggttcac	5	14	11	11	2	3	0	1	0	2	0	5	1	4	0	2	3	2	1	2	3	2	4	rs147271572	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:17793391C>T	ENST00000379472.3	+	2	780	c.750C>T	c.(748-750)ggC>ggT	p.G250G	KCNC1_ENST00000265969.6_Silent_p.G250G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATCGAGGGCGTCTGTGTGG	0.537													32	59					0	0	1	0	0	T	17793391	C	T	17793391	2	4	80	1	0	0	0	0	0	0	0	1	8058	755	27	1		1	KCNC1	11	17793391	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	250955	17793391	117213125	274	1712											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077851	19077851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaggatcaggaagacCgggatcagggtctccttgcc	12	7	13	9	1	3	2	2	1	1	1	4	5	3	5	3	4	1	0	3	4	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:19077851C>T	ENST00000329773.2	-	2	186	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	33					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCAGGAAGACCGGGATCAGGG	0.562													22	93					0	0	1	0	0	T	19077851	C	T	19077851	2	4	80	1	0	0	0	0	0	0	0	1	9816	639	23	1		1	MRGPRX2	11	19077851	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1284460	19077851	115928665	275	1713											
SLC6A5	9152	broad.mit.edu	37	chr11	20676288	20676288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgctcgccacagccGgactggggcccattcttagc	5	10	13	13	2	1	0	0	0	1	0	2	1	1	1	3	4	3	1	3	4	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:20676288G>A	ENST00000525748.1	+	16	2541	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	756					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGCCACAGCCGGACTGGGGCC	0.562													24	28					0	0	1	0	0	A	20676288	G	A	20676288	2	1	80	1	0	0	0	0	0	0	0	1	14742	1103	39	1		1	SLC6A5	11	20676288	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1598437	20676288	114330228	276	1714											
BBOX1	8424	broad.mit.edu	37	chr11	27148866	27148866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattacttttgataactggCgcttacttcatggccgacgt	8	15	9	9	3	1	2	1	2	0	0	1	3	1	2	1	2	3	1	1	2	3	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:27148866C>T	ENST00000263182.3	+	9	1398	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R344C|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.R344C|BBOX1_ENST00000528583.1_Missense_Mutation_p.R344C	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	344					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGATAACTGGCGCTTACTTCA	0.403													14	45					0	0	1	0	0	T	27148866	C	T	27148866	3	4	80	1	0	0	0	0	1	0	0	0	1332	768	27	1	1056	1	BBOX1	11	27148866	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6472578	27148866	107857650	277	1715											
CLP1	10978	broad.mit.edu	37	chr11	57428246	57428246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttttgcagattacatctCgtttagcagatgtgttcaac	9	16	7	9	1	3	2	1	0	2	2	4	2	3	2	0	0	4	4	0	0	3	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:57428246C>T	ENST00000533682.1	+	3	1341	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	CLP1_ENST00000302731.4_Missense_Mutation_p.R142C|CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000525602.1_Missense_Mutation_p.R206C			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	206					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GATTACATCTCGTTTAGCAGA	0.438													7	52					0	0	1	0	0	T	57428246	C	T	57428246	3	4	80	1	0	0	0	0	1	0	0	0	3573	884	31	1	622	1	CLP1	11	57428246	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30279380	57428246	77578270	278	1716											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466582	57466582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtcacccccactcccGggccgtgaggaagaaccagg	9	3	12	17	3	1	2	1	1	0	1	2	3	2	3	6	3	1	0	6	3	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:57466582G>A	ENST00000287169.3	+	11	3036	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	ZDHHC5_ENST00000527985.1_Silent_p.P505P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	558						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCCCACTCCCGGGCCGTGAGG	0.592													33	36					0	0	1	0	0	A	57466582	G	A	57466582	2	1	80	1	0	0	0	0	0	0	0	1	17676	1103	39	1		1	ZDHHC5	11	57466582	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	38336	57466582	77539934	279	1717											
MS4A15	219995	broad.mit.edu	37	chr11	60531221	60531221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgatgtctgcagctccCgccagcaatggagtgtttgt	8	10	12	11	2	1	0	0	0	1	0	2	2	2	1	2	1	4	5	2	1	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:60531221C>T	ENST00000405633.3	+	2	94	c.15C>T	c.(13-15)ccC>ccT	p.P5P	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Silent_p.P5P	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	5						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CTGCAGCTCCCGCCAGCAATG	0.527													21	42					0	0	1	0	0	T	60531221	C	T	60531221	2	4	80	1	0	0	0	0	0	0	0	1	9908	639	23	1		1	MS4A15	11	60531221	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3064639	60531221	74475295	280	1718											
TMEM109	79073	broad.mit.edu	37	chr11	60689439	60689439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtggccctgatgaggtcGgtgcctgacccttccacccg	4	10	12	15	3	0	3	0	3	0	0	3	3	1	3	5	3	1	0	5	3	0	2	rs35150957	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:60689439G>A	ENST00000227525.3	+	4	937	c.534G>A	c.(532-534)tcG>tcA	p.S178S	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.S178S	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	178						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						TGATGAGGTCGGTGCCTGACC	0.662													4	78					0	0	1	0	0	A	60689439	G	A	60689439	2	1	80	1	0	0	0	0	0	0	0	1	16085	1103	39	1		1	TMEM109	11	60689439	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	158218	60689439	74317077	281	1719											
TMEM132A	54972	broad.mit.edu	37	chr11	60702219	60702219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgggccgggagcccGgtgtcacctccattgaggta	5	9	16	11	3	1	1	1	1	0	0	3	2	2	2	4	5	1	1	4	5	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:60702219G>A	ENST00000005286.4	+	9	1975	c.1822G>A	c.(1822-1824)Ggt>Agt	p.G608S	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G607S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	607						endoplasmic reticulum membrane|Golgi 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						CCGGGAGCCCGGTGTCACCTC	0.657													3	16					0	0	1	0	0	A	60702219	G	A	60702219	3	1	80	1	0	0	0	0	1	0	0	0	16105	1116	39	1	1856	1	TMEM132A	11	60702219	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12780	60702219	74304297	282	1720											
DAK	26007	broad.mit.edu	37	chr11	61106798	61106798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccgggagcaggcccGggctgaaggcatcccggtgg	5	4	18	14	3	0	1	0	1	0	0	1	2	1	2	4	7	1	3	4	7	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:61106798G>A	ENST00000394900.3	+	5	606	c.377G>A	c.(376-378)cGg>cAg	p.R126Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	126	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGCAGGCCCGGGCTGAAGGC	0.662													28	68					0	0	1	0	0	A	61106798	G	A	61106798	3	1	80	1	0	0	0	0	1	0	0	0	4252	1116	39	1	391	1	DAK	11	61106798	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	404579	61106798	73899718	283	1721											
CHRM1	1128	broad.mit.edu	37	chr11	62678236	62678236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcagcagattcatgaCggaggcattgctggccacat	11	8	13	9	1	1	3	1	2	0	1	1	5	1	4	1	3	3	4	1	3	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:62678236C>T	ENST00000306960.3	-	2	878	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	113					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AGATTCATGACGGAGGCATTG	0.612													3	15					0	0	1	0	0	T	62678236	C	T	62678236	3	4	80	1	0	0	0	0	1	0	0	0	3398	536	19	1	1049	1	CHRM1	11	62678236	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1571438	62678236	72328280	284	1722											
HRASLS5	117245	broad.mit.edu	37	chr11	63257788	63257788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggagctggaccaacgctgCgaatcccacggattcttcta	9	9	11	12	3	2	0	0	0	2	0	3	4	3	3	2	3	3	2	2	3	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:63257788C>T	ENST00000540857.1	-	2	298	c.166G>A	c.(166-168)Gca>Aca	p.A56T	HRASLS5_ENST00000301790.4_Missense_Mutation_p.A66T|HRASLS5_ENST00000539221.1_Missense_Mutation_p.A66T	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	66								p.A66T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACCAACGCTGCGAATCCCACG	0.537													39	141					0	0	1	0	0	T	63257788	C	T	63257788	3	4	80	1	0	0	0	0	1	0	0	0	7392	768	27	1	663	1	HRASLS5	11	63257788	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	579552	63257788	71748728	285	1723											
MEN1	0	broad.mit.edu	37	chr11	64575121	64575121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccatcttgcggtcacagCgcatgtatgatcctttcagg	7	12	9	13	2	3	1	2	1	1	0	5	1	5	1	3	2	2	2	3	2	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:64575121C>T	ENST00000337652.1	-	4	1204	c.701G>A	c.(700-702)cGc>cAc	p.R234H	MEN1_ENST00000377326.3_Missense_Mutation_p.R229H|MEN1_ENST00000394374.2_Missense_Mutation_p.R234H|MEN1_ENST00000312049.6_Missense_Mutation_p.R229H|MEN1_ENST00000377316.2_Missense_Mutation_p.R229H|MEN1_ENST00000443283.1_Missense_Mutation_p.R234H|MEN1_ENST00000394376.1_Missense_Mutation_p.R234H|MEN1_ENST00000377321.1_Missense_Mutation_p.R194H|MEN1_ENST00000315422.4_Missense_Mutation_p.R229H|MEN1_ENST00000377313.1_Missense_Mutation_p.R234H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	234	Interaction with FANCD2.		R -> L (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|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 gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			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						GCGGTCACAGCGCATGTATGA	0.562			"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				14	29					0	0	1	0	0	T	64575121	C	T	64575121	3	4	80	1	0	0	0	0	1	0	0	0	9522	768	27	1	1174	1	MEN1	11	64575121	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1317333	64575121	70431395	286	1724											
EHD1	10938	broad.mit.edu	37	chr11	64622812	64622812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgcatcttgcggaggctCgggaagtccccaggggagat	8	7	15	11	2	1	1	0	0	1	1	3	4	2	3	3	5	2	2	3	5	1	1	rs144668933		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:64622812C>T	ENST00000320631.3	-	4	1316	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	EHD1_ENST00000359393.2_Silent_p.P354P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	354					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|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCGGAGGCTCGGGAAGTCCC	0.577											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	21					0	0	1	0	0	T	64622812	C	T	64622812	2	4	80	1	0	0	0	0	0	0	0	1	5003	871	31	1		1	EHD1	11	64622812	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	47691	64622812	70383704	287	1725											
EFEMP2	30008	broad.mit.edu	37	chr11	65638031	65638031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactcgggcccgatcttgcGgtaaccatcagggcaggtgc	8	7	13	13	3	2	0	1	0	1	0	3	1	2	0	2	4	3	2	2	4	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:65638031G>A	ENST00000307998.6	-	5	696	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R156C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	156	EGF-like 2; 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)		CCGATCTTGCGGTAACCATCA	0.622													10	4					0	0	1	0	0	A	65638031	G	A	65638031	3	1	80	1	0	0	0	0	1	0	0	0	4968	1116	39	1	893	1	EFEMP2	11	65638031	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1015219	65638031	69368485	288	1726											
TCIRG1	10312	broad.mit.edu	37	chr11	67812527	67812527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagcttccagggcatcGtggatgcctacggcgtgggc	5	7	16	13	4	0	0	0	0	0	0	2	1	1	1	3	5	3	2	3	5	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:67812527G>A	ENST00000265686.3	+	10	1231	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	375					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCAGGGCATCGTGGATGCCTA	0.682													8	38					0	0	1	0	0	A	67812527	G	A	67812527	3	1	80	1	0	0	0	0	1	0	0	0	15763	1145	40	1	1157	1	TCIRG1	11	67812527	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2174496	67812527	67193989	289	1727											
PPFIA1	8500	broad.mit.edu	37	chr11	70208475	70208475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcatgtcggccctgtccGacacagagatccagcgtgag	9	7	11	14	3	1	2	1	1	0	1	4	4	3	2	4	1	1	0	4	1	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:70208475G>A	ENST00000253925.7	+	21	2961	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	916	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCCTGTCCGACACAGAGAT	0.617													5	38					0	0	1	0	0	A	70208475	G	A	70208475	3	1	80	1	0	0	0	0	1	0	0	0	12354	1058	37	1	2824	1	PPFIA1	11	70208475	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2395948	70208475	64798041	290	1728											
P2RY2	5029	broad.mit.edu	37	chr11	72945667	72945667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacgctcgccgggtggccGgggccgtgtgggtgttggtg	1	9	21	10	5	0	0	0	0	0	0	1	0	0	0	3	6	1	3	3	6	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:72945667G>A	ENST00000311131.2	+	3	930	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	P2RY2_ENST00000393596.2_Missense_Mutation_p.G155R|P2RY2_ENST00000393597.2_Missense_Mutation_p.G155R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	155					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)	CCGGGTGGCCGGGGCCGTGTG	0.721													5	40					0	0	1	0	0	A	72945667	G	A	72945667	3	1	80	1	0	0	0	0	1	0	0	0	11399	1116	39	1	465	1	P2RY2	11	72945667	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2737192	72945667	62060849	291	1729											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021350	73021350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagaagcccatggcccGccgcctgccccgcaccagtg	6	5	11	19	3	1	1	0	1	1	1	1	2	1	1	7	1	2	1	7	1	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:73021350G>A	ENST00000263674.3	+	1	2017	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	556					actin cytoskeleton organization|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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCATGGCCCGCCGCCTGCCC	0.657													4	19					0	0	1	0	0	A	73021350	G	A	73021350	3	1	80	1	0	0	0	0	1	0	0	0	897	1087	38	1	1669	1	ARHGEF17	11	73021350	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	75683	73021350	61985166	292	1730											
KCNE3	10008	broad.mit.edu	37	chr11	74168452	74168452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtaggagttgtcatcacGgccaggtaggctggcccgcc	7	8	14	12	2	2	0	2	0	0	0	2	1	2	1	3	5	0	4	3	5	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:74168452G>A	ENST00000310128.4	-	3	576	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	KCNE3_ENST00000525550.1_Missense_Mutation_p.R53C|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	53						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TTGTCATCACGGCCAGGTAGG	0.557													13	13					0	0	1	0	0	A	74168452	G	A	74168452	3	1	80	1	0	0	0	0	1	0	0	0	8068	1116	39	1	158	1	KCNE3	11	74168452	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1147102	74168452	60838064	293	1731											
SLCO2B1	11309	broad.mit.edu	37	chr11	74907638	74907638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggctttaaccctgtctgcGaccccagcactcgtgtggaa	8	9	10	14	3	1	0	0	0	1	0	2	2	1	1	3	2	3	2	3	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:74907638G>A	ENST00000289575.5	+	10	1908	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D278N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D361N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D278N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D483N|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D389N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.D250N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	505	Kazal-like.				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)	CCCTGTCTGCGACCCCAGCAC	0.617													16	29					0	0	1	0	0	A	74907638	G	A	74907638	3	1	80	1	0	0	0	0	1	0	0	0	14782	1058	37	1	1551	1	SLCO2B1	11	74907638	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	739186	74907638	60098878	294	1732											
MYO7A	4647	broad.mit.edu	37	chr11	76890115	76890115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactttctgaagctgaagaaCgctgccacactgatccagag	13	8	9	11	1	1	5	0	3	1	2	2	5	2	5	2	0	4	2	2	0	4	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:76890115C>T	ENST00000409709.3	+	20	2579	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MYO7A_ENST00000409619.2_Silent_p.N758N|MYO7A_ENST00000409893.1_Silent_p.N769N|MYO7A_ENST00000458637.2_Silent_p.N769N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	769	IQ 2.				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	actin binding|ATP 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						AGCTGAAGAACGCTGCCACAC	0.587													5	3					0	0	1	0	0	T	76890115	C	T	76890115	2	4	80	1	0	0	0	0	0	0	0	1	10130	535	19	1		1	MYO7A	11	76890115	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1982477	76890115	58116401	295	1733											
MYO7A	4647	broad.mit.edu	37	chr11	76912671	76912671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtcaccatgccaccGcgggagattgtggtatgtgg	7	9	13	12	2	1	1	1	0	0	1	1	2	1	1	4	3	1	1	4	3	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:76912671G>A	ENST00000409709.3	+	36	5303	c.5031G>A	c.(5029-5031)ccG>ccA	p.P1677P	MYO7A_ENST00000409619.2_Silent_p.P1628P|MYO7A_ENST00000458637.2_Silent_p.P1639P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1677					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	actin binding|ATP 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						CCATGCCACCGCGGGAGATTG	0.587													3	31					0	0	1	0	0	A	76912671	G	A	76912671	2	1	80	1	0	0	0	0	0	0	0	1	10130	1074	38	1		1	MYO7A	11	76912671	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22556	76912671	58093845	296	1734											
GPR83	10888	broad.mit.edu	37	chr11	94113805	94113805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtttcttggccacaCgagcgtaggccacagagatg	10	7	12	12	2	1	1	0	0	1	1	1	3	1	1	3	2	1	2	3	2	1	3	rs139287789		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:94113805C>T	ENST00000243673.2	-	4	953	c.782G>A	c.(781-783)cGt>cAt	p.R261H	GPR83_ENST00000539203.2_Missense_Mutation_p.R219H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	261						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)				CTTGGCCACACGAGCGTAGGC	0.527													3	19					0	0	1	0	0	T	94113805	C	T	94113805	3	4	80	1	0	0	0	0	1	0	0	0	6753	536	19	1	493	1	GPR83	11	94113805	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17201134	94113805	40892711	297	1735											
YAP1	10413	broad.mit.edu	37	chr11	102094425	102094425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccagtgtcttctcccGggatgtctcaggaattgaga	11	11	10	9	1	3	1	1	1	3	1	6	4	4	3	2	2	0	0	2	2	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:102094425G>A	ENST00000282441.5	+	7	1493	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	YAP1_ENST00000524575.1_Missense_Mutation_p.G191R|YAP1_ENST00000537274.1_Missense_Mutation_p.G357R|YAP1_ENST00000345877.2_Missense_Mutation_p.G319R|YAP1_ENST00000526343.1_Missense_Mutation_p.G315R|YAP1_ENST00000531439.1_Missense_Mutation_p.G353R	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	369	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GTCTTCTCCCGGGATGTCTCA	0.438													33	32					0	0	1	0	0	A	102094425	G	A	102094425	3	1	80	1	0	0	0	0	1	0	0	0	17526	1116	39	1	1143	1	YAP1	11	102094425	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7980620	102094425	32912091	298	1736											
C11orf57	55216	broad.mit.edu	37	chr11	111953260	111953260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatctacccatgaatcccGcaaacacaagaagtcaaaga	17	6	6	12	1	3	3	2	1	1	2	4	3	4	3	2	0	2	1	2	0	6	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:111953260G>A	ENST00000532163.1	+	6	1125	c.359G>A	c.(358-360)cGc>cAc	p.R120H	C11orf57_ENST00000393047.3_Missense_Mutation_p.R149H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R148H|C11orf57_ENST00000280352.9_Missense_Mutation_p.R148H			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	148										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CATGAATCCCGCAAACACAAG	0.358													3	45					0	0	1	0	0	A	111953260	G	A	111953260	3	1	80	1	0	0	0	0	1	0	0	0	1655	1087	38	1	464	1	C11orf57	11	111953260	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9858835	111953260	23053256	299	1737											
APOA4	337	broad.mit.edu	37	chr11	116691776	116691776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggccttccacgtcccccGcatgggggcccagtttctgc	4	9	12	16	2	1	0	0	0	1	0	3	0	3	0	5	3	1	2	5	3	0	2	rs113263292		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:116691776G>A	ENST00000357780.3	-	3	1112	c.998C>T	c.(997-999)gCg>gTg	p.A333V		NM_000482.3	NP_000473.2			apolipoprotein A-IV											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)		CACGTCCCCCGCATGGGGGCC	0.587													11	31					0	0	1	0	0	A	116691776	G	A	116691776	3	1	80	1	0	0	0	0	1	0	0	0	780	1087	38	1	196	1	APOA4	11	116691776	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4738516	116691776	18314740	300	1738											
PCSK7	9159	broad.mit.edu	37	chr11	117089817	117089817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttgaggaggccgaaacCgtgctggtggctatggctga	7	8	18	8	3	0	2	0	2	0	0	0	4	0	3	2	6	2	4	2	6	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117089817C>T	ENST00000320934.3	-	11	2017	c.1387G>A	c.(1387-1389)Ggt>Agt	p.G463S	PCSK7_ENST00000540028.1_Missense_Mutation_p.G104S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	463	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)		AGGCCGAAACCGTGCTGGTGG	0.597			T	IGH@	MLCLS								4	19					0	0	1	0	0	T	117089817	C	T	117089817	3	4	80	1	0	0	0	0	1	0	0	0	11652	652	23	1	998	1	PCSK7	11	117089817	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	398041	117089817	17916699	301	1739											
DSCAML1	57453	broad.mit.edu	37	chr11	117301699	117301699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataggcccgggccagctcctCgtaggtggaagaggcactct	8	7	14	12	2	1	1	0	0	1	1	3	2	2	2	3	5	1	3	3	5	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117301699C>T	ENST00000321322.6	-	32	5606	c.5605G>A	c.(5605-5607)Gag>Aag	p.E1869K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1599K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1809					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)		GCCAGCTCCTCGTAGGTGGAA	0.562													38	26					0	0	1	0	0	T	117301699	C	T	117301699	3	4	80	1	0	0	0	0	1	0	0	0	4795	893	31	1	744	1	DSCAML1	11	117301699	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	211882	117301699	17704817	302	1740											
DSCAML1	57453	broad.mit.edu	37	chr11	117651409	117651409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaccatcgaagggccgCgctgggggagcccgcggccg	6	3	18	14	6	0	0	0	0	0	0	1	2	0	1	4	5	2	2	4	5	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117651409C>T	ENST00000321322.6	-	2	344	c.343G>A	c.(343-345)Gcg>Acg	p.A115T	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	55	Ig-like C2-type 1.|Ig-like C2-type 2.				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)		CGAAGGGCCGCGCTGGGGGAG	0.657													26	24					0	0	1	0	0	T	117651409	C	T	117651409	3	4	80	1	0	0	0	0	1	0	0	0	4795	768	27	1	6126	1	DSCAML1	11	117651409	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	349710	117651409	17355107	303	1741											
CBL	867	broad.mit.edu	37	chr11	119144698	119144698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaatgattatatttcGgtttttgaatttgacatctt	10	19	6	6	1	1	3	0	3	1	0	2	3	1	3	1	1	1	2	1	1	4	7	rs146662327		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:119144698G>A	ENST00000264033.4	+	4	1087	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	237	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATTATATTTCGGTTTTTGAAT	0.418			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				10	30					0	0	1	0	0	A	119144698	G	A	119144698	2	1	80	1	0	0	0	0	0	0	0	1	2718	1103	39	1		1	CBL	11	119144698	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1493289	119144698	15861818	304	1742											
PVRL1	5818	broad.mit.edu	37	chr11	119535574	119535574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtccggtccccgtagccGtcctgacgggcctcggcctc	4	7	13	17	5	0	2	0	1	0	1	5	2	3	2	7	3	1	1	7	3	1	1	rs141036439		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:119535574G>A	ENST00000264025.3	-	6	1967	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	479					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)		CCCCGTAGCCGTCCTGACGGG	0.627													4	23					0	0	1	0	0	A	119535574	G	A	119535574	2	1	80	1	0	0	0	0	0	0	0	1	12891	1136	40	1		1	PVRL1	11	119535574	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	390876	119535574	15470942	305	1743											
GRIK4	2900	broad.mit.edu	37	chr11	120827588	120827588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacagcctctggtttccGgtcggggggttcatgcagca	6	9	15	11	2	2	0	1	0	1	0	4	0	3	0	2	6	4	5	2	6	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:120827588G>A	ENST00000527524.2	+	16	2087	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	GRIK4_ENST00000438375.2_Silent_p.P600P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	600					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCTGGTTTCCGGTCGGGGGGT	0.642													4	41					0	0	1	0	0	A	120827588	G	A	120827588	2	1	80	1	0	0	0	0	0	0	0	1	6817	1103	39	1		1	GRIK4	11	120827588	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1292014	120827588	14178928	306	1744											
TECTA	7007	broad.mit.edu	37	chr11	121000772	121000772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgccatggggtggtgaaCgtcactgcctattaccgcac	8	9	13	11	2	1	1	1	1	0	0	1	2	1	1	3	3	4	1	3	3	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:121000772C>T	ENST00000392793.1	+	10	3064	c.2793C>T	c.(2791-2793)aaC>aaT	p.N931N	TECTA_ENST00000264037.2_Silent_p.N931N			O75443	TECTA_HUMAN	tectorin alpha	931					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)		GGGTGGTGAACGTCACTGCCT	0.587													11	31					0	0	1	0	0	T	121000772	C	T	121000772	2	4	80	1	0	0	0	0	0	0	0	1	15806	535	19	1		1	TECTA	11	121000772	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	173184	121000772	14005744	307	1745											
PUS3	83480	broad.mit.edu	37	chr11	125763823	125763823	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgtgggtgctcaattcGtcccctacgtacaaaatgct	11	12	8	10	2	1	0	1	0	0	0	3	0	2	0	2	1	4	3	2	1	7	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:125763823G>A	ENST00000227474.3	-	4	1400	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Nonsense_Mutation_p.R435*	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	435						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TGCTCAATTCGTCCCCTACGT	0.453													8	123					0	0	1	0	0	A	125763823	G	A	125763823	4	1	80	1	0	0	0	0	0	1	0	0	12884	1153	40	1	146	1	PUS3	11	125763823	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4763051	125763823	9242693	308	1746											
TMEM45B	120224	broad.mit.edu	37	chr11	129722455	129722455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggtcagtgaagtacccGctgaagtactttagccacac	10	11	10	10	1	1	2	1	2	0	0	1	2	1	2	2	1	3	4	2	1	5	5	rs145339290	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:129722455G>A	ENST00000281441.3	+	2	166	c.78G>A	c.(76-78)ccG>ccA	p.P26P	TMEM45B_ENST00000524567.1_Silent_p.P26P	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	26						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TGAAGTACCCGCTGAAGTACT	0.498													41	65					0	0	1	0	0	A	129722455	G	A	129722455	2	1	80	1	0	0	0	0	0	0	0	1	16230	1074	38	1		1	TMEM45B	11	129722455	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3958632	129722455	5284061	309	1747											
IGSF9B	22997	broad.mit.edu	37	chr11	133806051	133806051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcctgggagatgttgaCggtgatgttctcaggagggg	8	10	17	6	1	1	3	1	2	1	1	3	5	2	4	1	5	1	3	1	5	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:133806051C>T	ENST00000321016.8	-	6	948	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V240I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	240	Ig-like 3.					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)		GAGATGTTGACGGTGATGTTC	0.617													5	16					0	0	1	0	0	T	133806051	C	T	133806051	3	4	80	1	0	0	0	0	1	0	0	0	7650	536	19	1	3387	1	IGSF9B	11	133806051	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4083596	133806051	1200465	310	1748											
IGSF9B	22997	broad.mit.edu	37	chr11	133807352	133807352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaggcacctctgtcctcccGactgaccgatgtcactgtca	7	10	9	15	2	3	1	2	1	1	0	5	3	5	1	4	1	0	2	4	1	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:133807352G>A	ENST00000321016.8	-	5	828	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R200W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	200	Ig-like 2.					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)		CTGTCCTCCCGACTGACCGAT	0.607													21	17					0	0	1	0	0	A	133807352	G	A	133807352	3	1	80	1	0	0	0	0	1	0	0	0	7650	1057	37	1	3511	1	IGSF9B	11	133807352	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1301	133807352	1199164	311	1749											
SLC6A12	6539	broad.mit.edu	37	chr12	319146	319146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcactgccaccttccCgtccatggctgtgtggtggg	3	12	12	14	1	1	0	0	0	1	0	3	0	3	0	4	3	2	2	4	3	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:319146C>T	ENST00000428720.1	-	3	750	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	SLC6A12_ENST00000359674.4_Missense_Mutation_p.G3R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G3R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G3R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G3R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	3					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCACCTTCCCGTCCATGGCT	0.607													7	13					0	0	1	0	0	T	319146	C	T	319146	3	4	80	1	0	0	0	0	1	0	0	0	14730	652	23	1	1893	1	SLC6A12	12	319146	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		319146	133532749	312	1750											
ERC1	23085	broad.mit.edu	37	chr12	1137128	1137128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagccagagccctgggcGttcacccaggcttccacgtt	7	7	12	15	2	1	1	1	0	0	1	2	2	2	1	4	2	3	4	4	2	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:1137128G>A	ENST00000397203.2	+	2	465	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC1_ENST00000360905.4_Missense_Mutation_p.R20H|ERC1_ENST00000589028.1_Missense_Mutation_p.R20H|ERC1_ENST00000355446.5_Missense_Mutation_p.R20H|ERC1_ENST00000543086.3_Missense_Mutation_p.R20H|ERC1_ENST00000546231.2_Missense_Mutation_p.R20H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	20					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|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)			AGCCCTGGGCGTTCACCCAGG	0.582													44	59					0	0	1	0	0	A	1137128	G	A	1137128	3	1	80	1	0	0	0	0	1	0	0	0	5238	1145	40	1	61	1	ERC1	12	1137128	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	817982	1137128	132714767	313	1751											
DCP1B	196513	broad.mit.edu	37	chr12	2062235	2062235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttctgaatggctggacAgagctgcttctcaatggggg	8	11	15	7	0	2	2	1	1	2	1	3	4	2	3	0	4	2	4	0	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2062235A>G	ENST00000280665.6	-	7	950	c.871T>C	c.(871-873)Tgt>Cgt	p.C291R	DCP1B_ENST00000540622.1_Missense_Mutation_p.C165R|DCP1B_ENST00000397173.4_Missense_Mutation_p.C189R|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	291					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATGGCTGGACAGAGCTGCTTC	0.547													18	33					0	0	1	0	0	G	2062235	A	G	2062235	3	3	80	1	0	0	0	0	1	0	0	0	4322	188	7	4	994	4	DCP1B	12	2062235	Missense_Mutation	SNP	A	TCGA-YZ-A985-01A-11D-A39W-08	925107	2062235	131789660	314	1752											
CACNA1C	775	broad.mit.edu	37	chr12	2719791	2719791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtacaaagtgtggtacGtggtcaactccacctacttc	11	10	8	12	1	1	0	1	0	0	0	3	0	2	0	3	2	4	2	3	2	5	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2719791G>A	ENST00000399655.1	+	28	3908	c.3643G>A	c.(3643-3645)Gtg>Atg	p.V1215M	CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1235M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1240M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1235M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1235					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			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)	AGTGTGGTACGTGGTCAACTC	0.592													6	32					0	0	1	0	0	A	2719791	G	A	2719791	3	1	80	1	0	0	0	0	1	0	0	0	2558	1145	40	1	3925	1	CACNA1C	12	2719791	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	657556	2719791	131132104	315	1753											
FOXM1	2305	broad.mit.edu	37	chr12	2973852	2973852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctcccatactaacgtgCgcccagggggagttcggttt	7	10	11	13	3	1	0	0	0	1	0	3	1	1	1	2	3	3	2	2	3	2	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2973852C>T	ENST00000342628.2	-	7	1200	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	FOXM1_ENST00000359843.3_Missense_Mutation_p.A363T|FOXM1_ENST00000361953.3_Missense_Mutation_p.A348T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	363					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 cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|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)			TACTAACGTGCGCCCAGGGGG	0.552													4	70					0	0	1	0	0	T	2973852	C	T	2973852	3	4	80	1	0	0	0	0	1	0	0	0	6052	768	27	1	1334	1	FOXM1	12	2973852	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	254061	2973852	130878043	316	1754											
KCNA5	3741	broad.mit.edu	37	chr12	5154303	5154303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatcgtggagaccacGtgcgtcatctggttcacctt	6	14	9	12	3	5	1	3	0	2	1	6	2	5	1	2	2	1	1	2	2	0	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:5154303G>A	ENST00000252321.3	+	1	1219	c.990G>A	c.(988-990)acG>acA	p.T330T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	330						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.T330T(1)		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						TGGAGACCACGTGCGTCATCT	0.652													7	56					0	0	1	0	0	A	5154303	G	A	5154303	2	1	80	1	0	0	0	0	0	0	0	1	8050	1132	40	1		1	KCNA5	12	5154303	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2180451	5154303	128697592	317	1755											
VWF	7450	broad.mit.edu	37	chr12	6128639	6128639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtactccaccacggccacGcggacccacttctgggagat	8	7	11	15	3	1	1	0	0	1	1	2	3	2	2	4	4	1	1	4	4	1	2	rs143009893		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:6128639G>A	ENST00000261405.5	-	28	4199	c.3945C>T	c.(3943-3945)cgC>cgT	p.R1315R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1315	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			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)	CCACGGCCACGCGGACCCACT	0.632													27	21					0	0	1	0	0	A	6128639	G	A	6128639	2	1	80	1	0	0	0	0	0	0	0	1	17306	1074	38	1		1	VWF	12	6128639	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	974336	6128639	127723256	318	1756											
ATF7IP	55729	broad.mit.edu	37	chr12	14650705	14650705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacttgaagttagcacgcGttcagagtcaaaatggcata	14	9	9	9	2	2	2	2	1	0	1	2	2	2	2	0	1	1	4	0	1	5	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:14650705G>A	ENST00000544627.1	+	15	3855	c.3535G>A	c.(3535-3537)Gtt>Att	p.V1179I	ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1171I|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V1171I|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1170I			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1171	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTTAGCACGCGTTCAGAGTCA	0.532													20	23					0	0	1	0	0	A	14650705	G	A	14650705	3	1	80	1	0	0	0	0	1	0	0	0	1086	1145	40	1	3565	1	ATF7IP	12	14650705	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8522066	14650705	119201190	319	1757											
TMTC1	83857	broad.mit.edu	37	chr12	29671410	29671410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagggaactttaccgcttGtaccattcttcagccatgct	10	12	8	11	1	2	0	1	0	1	0	2	2	2	1	3	1	5	3	3	1	4	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:29671410G>A	ENST00000256062.5	-	13	2168	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	TMTC1_ENST00000552618.1_Silent_p.Y697Y|TMTC1_ENST00000539277.1_Silent_p.Y673Y|TMTC1_ENST00000551659.1_Silent_p.Y735Y|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	673						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTACCGCTTGTACCATTCTT	0.463													51	52					0	0	1	0	0	A	29671410	G	A	29671410	2	1	80	1	0	0	0	0	0	0	0	1	16320	1372	48	3		3	TMTC1	12	29671410	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15020705	29671410	104180485	320	1758											
BICD1	636	broad.mit.edu	37	chr12	32480498	32480498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatgagcgggtgcaccGgctcacagagcacgtcaatg	10	5	14	12	3	2	2	2	1	0	1	2	2	2	2	1	2	4	5	1	2	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:32480498G>A	ENST00000548411.1	+	5	1290	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	BICD1_ENST00000281474.5_Missense_Mutation_p.R370Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	370					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|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase 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)			CGGGTGCACCGGCTCACAGAG	0.622													6	10					0	0	1	0	0	A	32480498	G	A	32480498	3	1	80	1	0	0	0	0	1	0	0	0	1427	1116	39	1	1127	1	BICD1	12	32480498	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2809088	32480498	101371397	321	1759											
CNTN1	1272	broad.mit.edu	37	chr12	41421732	41421732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataatcacctgggatcatgtCgttgcactatcaaatgaatc	13	12	7	9	1	3	1	3	1	0	0	5	2	3	2	1	1	1	2	1	1	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:41421732C>T	ENST00000551295.2	+	22	2901	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	CNTN1_ENST00000347616.1_Silent_p.V928V|CNTN1_ENST00000348761.2_Silent_p.V917V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	928	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGGATCATGTCGTTGCACTAT	0.388													7	30					0	0	1	0	0	T	41421732	C	T	41421732	2	4	80	1	0	0	0	0	0	0	0	1	3663	871	31	1		1	CNTN1	12	41421732	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8941234	41421732	92430163	322	1760											
NCKAP5L	57701	broad.mit.edu	37	chr12	50188796	50188796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttgacttccctccggagCggggagcccccgccagcccc	5	6	11	19	3	1	1	0	1	1	0	3	3	3	3	7	3	3	0	7	3	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:50188796C>T	ENST00000335999.6	-	8	3048	c.2847G>A	c.(2845-2847)ccG>ccA	p.P949P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	945										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCTCCGGAGCGGGGAGCCCC	0.652													3	18					0	0	1	0	0	T	50188796	C	T	50188796	2	4	80	1	0	0	0	0	0	0	0	1	10271	755	27	1		1	NCKAP5L	12	50188796	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8767064	50188796	83663099	323	1761											
SCN8A	6334	broad.mit.edu	37	chr12	52200942	52200942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcacaaccacactgcGtcgcaagcaggaggaggtat	13	5	11	12	2	1	0	1	0	0	0	2	2	1	2	2	3	3	3	2	3	4	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:52200942G>A	ENST00000354534.6	+	27	5850	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1850H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACCACACTGCGTCGCAAGCAG	0.547													4	144					0	0	1	0	0	A	52200942	G	A	52200942	3	1	80	1	0	0	0	0	1	0	0	0	13978	1145	40	1	5774	1	SCN8A	12	52200942	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2012146	52200942	81650953	324	1762											
KRT72	140807	broad.mit.edu	37	chr12	52984649	52984649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattccctatctctgagcGgatcctctggatcaggcggt	7	11	10	13	2	3	1	1	1	2	0	6	3	5	3	2	4	1	0	2	4	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:52984649G>A	ENST00000293745.2	-	6	1145	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	KRT72_ENST00000398066.3_Missense_Mutation_p.R166C|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000537672.2_Missense_Mutation_p.R354C	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	354	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATCTCTGAGCGGATCCTCTGG	0.488													6	53					0	0	1	0	0	A	52984649	G	A	52984649	3	1	80	1	0	0	0	0	1	0	0	0	8528	1116	39	1	491	1	KRT72	12	52984649	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	783707	52984649	80867246	325	1763											
MFSD5	84975	broad.mit.edu	37	chr12	53647517	53647517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggctcttccctgtacCgtatcgccacctccaagagg	6	11	9	15	2	1	1	0	0	1	1	4	1	3	1	5	2	2	4	5	2	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:53647517C>T	ENST00000534842.1	+	2	1366	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	MFSD5_ENST00000329548.4_Missense_Mutation_p.R300C	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	300					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCTGTACCGTATCGCCAC	0.567													4	36					0	0	1	0	0	T	53647517	C	T	53647517	3	4	80	1	0	0	0	0	1	0	0	0	9584	652	23	1	1225	1	MFSD5	12	53647517	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	662868	53647517	80204378	326	1764											
ITGA5	3678	broad.mit.edu	37	chr12	54799459	54799459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accactcacccatccccattGacgtctgtggcggccactgc	7	8	8	18	2	2	1	1	1	1	0	3	1	3	1	5	2	1	0	5	2	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:54799459G>A	ENST00000293379.4	-	11	1266	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	335					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CATCCCCATTGACGTCTGTGG	0.547													38	20					0	0	1	0	0	A	54799459	G	A	54799459	2	1	80	1	0	0	0	0	0	0	0	1	7923	1277	45	3		3	ITGA5	12	54799459	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1151942	54799459	79052436	327	1765											
AGAP2	116986	broad.mit.edu	37	chr12	58125237	58125237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcaaggaattgccacttCgttttagtaggaagctctgg	9	14	11	7	1	2	0	1	0	1	0	3	2	2	2	1	3	2	4	1	3	5	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:58125237C>T	ENST00000257897.3	-	10	1134	c.1049G>A	c.(1048-1050)cGa>cAa	p.R350Q	AGAP2_ENST00000547588.1_Missense_Mutation_p.R686Q	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	686	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			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATTGCCACTTCGTTTTAGTAG	0.473													26	36					0	0	1	0	0	T	58125237	C	T	58125237	3	4	80	1	0	0	0	0	1	0	0	0	367	884	31	1	1561	1	AGAP2	12	58125237	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3325778	58125237	75726658	328	1766											
CYP27B1	1594	broad.mit.edu	37	chr12	58157521	58157521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagccagcgagctggaCgaaaagaatttggctctggg	10	6	13	12	2	1	1	0	0	1	1	1	4	1	2	3	3	3	2	3	3	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:58157521C>T	ENST00000228606.4	-	8	1495	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	429			R -> P (in VDDR1A).		bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGAGCTGGACGAAAAGAATT	0.567													3	41					0	0	1	0	0	T	58157521	C	T	58157521	3	4	80	1	0	0	0	0	1	0	0	0	4182	536	19	1	248	1	CYP27B1	12	58157521	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32284	58157521	75694374	329	1767											
MSRB3	253827	broad.mit.edu	37	chr12	65857066	65857066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgagggaggcagtggggtCgccagcccggcccaggcaga	7	2	19	13	3	0	1	0	0	0	1	1	3	0	2	4	6	1	2	4	6	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:65857066C>T	ENST00000308259.5	+	7	796	c.522C>T	c.(520-522)gtC>gtT	p.V174V	MSRB3_ENST00000355192.3_Silent_p.V181V|MSRB3_ENST00000535664.1_Silent_p.V174V	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	181					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GCAGTGGGGTCGCCAGCCCGG	0.502													7	52					0	0	1	0	0	T	65857066	C	T	65857066	2	4	80	1	0	0	0	0	0	0	0	1	9937	871	31	1		1	MSRB3	12	65857066	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7699545	65857066	67994829	330	1768											
TBC1D15	64786	broad.mit.edu	37	chr12	72288569	72288569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatccctctacacatcaacGaccaccttcagaaatggcag	13	7	6	15	2	3	1	2	0	1	1	4	3	4	1	3	1	2	1	3	1	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:72288569G>A	ENST00000550746.1	+	8	876	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R262Q|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R25Q|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R254Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	271							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACATCAACGACCACCTTCA	0.388													28	31					0	0	1	0	0	A	72288569	G	A	72288569	3	1	80	1	0	0	0	0	1	0	0	0	15661	1058	37	1	966	1	TBC1D15	12	72288569	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6431503	72288569	61563326	331	1769											
E2F7	144455	broad.mit.edu	37	chr12	77417851	77417851	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccgagctggtgtttcGtgactggttcctttctcttc	2	16	12	11	2	1	1	0	1	1	0	5	2	2	1	2	3	1	3	2	3	0	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:77417851G>A	ENST00000322886.7	-	13	2915	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	894					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGTGTTTCGTGACTGGTTC	0.587													22	61					0	0	1	0	0	A	77417851	G	A	77417851	4	1	80	1	0	0	0	0	0	1	0	0	4898	1153	40	1	59	1	E2F7	12	77417851	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5129282	77417851	56434044	332	1770											
TMTC3	160418	broad.mit.edu	37	chr12	88566445	88566445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggatttgttgttgcCgagcgagtattatatgttcc	7	16	11	7	2	0	0	0	0	0	0	1	3	1	1	3	1	2	5	3	1	3	8			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:88566445C>T	ENST00000266712.6	+	8	1342	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	374						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTGTTGTTGCCGAGCGAGTAT	0.353													18	56					0	0	1	0	0	T	88566445	C	T	88566445	2	4	80	1	0	0	0	0	0	0	0	1	16322	639	23	1		1	TMTC3	12	88566445	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11148594	88566445	45285450	333	1771											
ULK1	8408	broad.mit.edu	37	chr12	132396495	132396495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgactctcagtccctgggCgagatgcagcagctgcagaa	9	8	13	11	1	1	3	1	1	1	2	3	4	2	3	1	1	4	5	1	1	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:132396495C>T	ENST00000321867.4	+	13	1308	c.957C>T	c.(955-957)ggC>ggT	p.G319G		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	319	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGTCCCTGGGCGAGATGCAGC	0.647													16	12					0	0	1	0	0	T	132396495	C	T	132396495	2	4	80	1	0	0	0	0	0	0	0	1	17035	755	27	1		1	ULK1	12	132396495	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	43830050	132396495	1455400	334	1772											
FRY	10129	broad.mit.edu	37	chr13	32800075	32800075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctaagactctaaccGtgcagccagcctaccaacct	12	7	8	14	1	1	2	0	1	1	1	1	2	1	2	5	0	7	2	5	0	5	3	rs61946739		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:32800075G>A	ENST00000380250.3	+	39	5666	c.5170G>A	c.(5170-5172)Gtg>Atg	p.V1724M		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.V1724M(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)		GACTCTAACCGTGCAGCCAGC	0.488													27	10					0	0	1	0	0	A	32800075	G	A	32800075	3	1	80	1	0	0	0	0	1	0	0	0	6098	1145	40	1	5324	1	FRY	13	32800075	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		32800075	82369803	335	1773											
KL	9365	broad.mit.edu	37	chr13	33635718	33635718	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagtgcaagaaatgacCgacatcacgtggctcaactc	14	7	9	11	2	2	3	2	1	0	2	3	4	2	3	1	1	2	2	1	1	5	1	rs147748913		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:33635718C>T	ENST00000380099.3	+	4	2510	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	834	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAGAAATGACCGACATCACGT	0.473													3	45					0	0	1	0	0	T	33635718	C	T	33635718	2	4	80	1	0	0	0	0	0	0	0	1	8374	639	23	1		1	KL	13	33635718	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	835643	33635718	81534160	336	1774											
KL	9365	broad.mit.edu	37	chr13	33638014	33638014	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggatggtatcaatctttgCggatactttgcttattcgtt	7	18	9	7	2	2	0	1	0	1	0	3	2	2	2	0	3	3	3	0	3	4	7			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:33638014C>T	ENST00000380099.3	+	5	2738	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	910	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCAATCTTTGCGGATACTTTG	0.403													30	94					0	0	1	0	0	T	33638014	C	T	33638014	2	4	80	1	0	0	0	0	0	0	0	1	8374	776	27	1		1	KL	13	33638014	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2296	33638014	81531864	337	1775											
ZC3H13	23091	broad.mit.edu	37	chr13	46616352	46616352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggggctcagtgtccaCgtcttggcgcttgttcttca	3	16	11	11	2	5	0	2	0	3	0	6	0	6	0	1	3	0	3	1	3	0	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:46616352C>T	ENST00000242848.4	-	4	634	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	96							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)		TCAGTGTCCACGTCTTGGCGC	0.413													8	69					0	0	1	0	0	T	46616352	C	T	46616352	3	4	80	1	0	0	0	0	1	0	0	0	17624	536	19	1	4464	1	ZC3H13	13	46616352	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12978338	46616352	68553526	338	1776											
THSD1	55901	broad.mit.edu	37	chr13	52952669	52952669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcccgtctcccccatccGagaagctcccgcgctgctcg	4	7	11	19	5	1	1	0	0	1	1	5	2	3	1	5	1	2	3	5	1	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:52952669G>A	ENST00000349258.4	-	4	1821	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	THSD1_ENST00000258613.4_Missense_Mutation_p.S479L|THSD1_ENST00000544466.1_Missense_Mutation_p.S100L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	479						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)		TCCCCCATCCGAGAAGCTCCC	0.652													13	18					0	0	1	0	0	A	52952669	G	A	52952669	3	1	80	1	0	0	0	0	1	0	0	0	15937	1059	37	1	1126	1	THSD1	13	52952669	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6336317	52952669	62217209	339	1777											
RNF113B	140432	broad.mit.edu	37	chr13	98829458	98829458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacctggtctgcttggtcGgccgtccttcctggagaagg	5	11	13	12	2	1	1	0	0	1	1	4	2	3	1	4	5	2	1	4	5	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:98829458G>A	ENST00000267291.6	-	1	61	c.33C>T	c.(31-33)gcC>gcT	p.A11A	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	11							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTGCTTGGTCGGCCGTCCTTC	0.652													9	27					0	0	1	0	0	A	98829458	G	A	98829458	2	1	80	1	0	0	0	0	0	0	0	1	13480	1103	39	1		1	RNF113B	13	98829458	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	45876789	98829458	16340420	340	1778											
COL4A1	1282	broad.mit.edu	37	chr13	110804776	110804776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgacactcgatgaatggCgcacttctaaactcctccag	10	9	8	14	3	1	2	0	2	1	0	4	3	3	2	3	1	1	1	3	1	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:110804776C>T	ENST00000375820.4	-	51	4954	c.4833G>A	c.(4831-4833)gcG>gcA	p.A1611A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1611	Collagen IV NC1.				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)			CGATGAATGGCGCACTTCTAA	0.587													26	36					0	0	1	0	0	T	110804776	C	T	110804776	2	4	80	1	0	0	0	0	0	0	0	1	3712	755	27	1		1	COL4A1	13	110804776	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11975318	110804776	4365102	341	1779											
COL4A1	1282	broad.mit.edu	37	chr13	110862385	110862385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctggcagtcctggtGggccctagaatgcatgagaa	10	7	14	10	0	0	2	0	1	0	2	1	4	1	2	3	3	2	2	3	3	4	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:110862385G>A	ENST00000375820.4	-	10	678	c.557C>T	c.(556-558)cCa>cTa	p.P186L	COL4A1_ENST00000543140.1_Missense_Mutation_p.P186L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	186	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)			CAGTCCTGGTGGGCCCTAGAA	0.502													18	13					0	0	1	0	0	A	110862385	G	A	110862385	3	1	80	1	0	0	0	0	1	0	0	0	3712	1348	47	3	4624	3	COL4A1	13	110862385	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	57609	110862385	4307493	342	1780											
F7	2155	broad.mit.edu	37	chr13	113772927	113772927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaggacgctggccttcGtgcgcttctcattggtcagc	5	11	13	12	3	2	1	2	1	1	1	4	3	2	2	1	3	2	2	1	3	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:113772927G>A	ENST00000375581.3	+	9	1041	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	F7_ENST00000541084.1_Missense_Mutation_p.V267M|F7_ENST00000346342.3_Missense_Mutation_p.V314M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	336	Peptidase S1.				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	endoplasmic reticulum lumen|Golgi 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)	GCTGGCCTTCGTGCGCTTCTC	0.677													7	17					0	0	1	0	0	A	113772927	G	A	113772927	3	1	80	1	0	0	0	0	1	0	0	0	5377	1145	40	1	1040	1	F7	13	113772927	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2910542	113772927	1396951	343	1781											
PSMB11	122706	broad.mit.edu	37	chr14	23512169	23512169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgcctgtgtgctgtaCgtggagttacagaagctcct	8	12	13	8	1	0	2	0	1	0	1	1	3	1	3	2	1	5	4	2	1	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:23512169C>T	ENST00000408907.2	+	1	794	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GTGTGCTGTACGTGGAGTTAC	0.597													4	22					0	0	1	0	0	T	23512169	C	T	23512169	2	4	80	1	0	0	0	0	0	0	0	1	12725	547	19	1		1	PSMB11	14	23512169	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		23512169	83837371	344	1782											
IL25	0	broad.mit.edu	37	chr14	23845042	23845042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagcgcaggctgtacCgtgtttccttagcttgtgtg	4	13	14	10	2	0	0	0	0	0	0	1	1	1	1	3	2	3	5	3	2	2	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:23845042C>T	ENST00000329715.2	+	2	745	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	IL25_ENST00000397242.2_Missense_Mutation_p.R147C	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	163					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAGGCTGTACCGTGTTTCCTT	0.612													30	30					0	0	1	0	0	T	23845042	C	T	23845042	3	4	80	1	0	0	0	0	1	0	0	0	7722	652	23	1	506	1	IL25	14	23845042	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	332873	23845042	83504498	345	1783											
CPNE6	9362	broad.mit.edu	37	chr14	24543954	24543954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagctgggagccgttcCgcctgtccctgcattcccta	5	9	9	18	2	0	0	0	0	0	0	3	1	3	1	7	1	3	3	7	1	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:24543954C>T	ENST00000397016.2	+	8	933	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CPNE6_ENST00000537691.1_Missense_Mutation_p.R263C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R208C	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	208	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGAGCCGTTCCGCCTGTCCCT	0.557													4	7					0	0	1	0	0	T	24543954	C	T	24543954	3	4	80	1	0	0	0	0	1	0	0	0	3839	652	23	1	644	1	CPNE6	14	24543954	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	698912	24543954	82805586	346	1784											
REC8	9985	broad.mit.edu	37	chr14	24642157	24642157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcaacccccgcagcccGgcctgccgcggccccgcttc	4	4	12	21	5	0	0	0	0	0	0	1	1	0	0	7	2	4	3	7	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:24642157G>A	ENST00000311457.3	+	4	774	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	REC8_ENST00000559919.1_Missense_Mutation_p.G59S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	59					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGCAGCCCGGCCTGCCGCG	0.607													9	33					0	0	1	0	0	A	24642157	G	A	24642157	3	1	80	1	0	0	0	0	1	0	0	0	13251	1116	39	1	185	1	REC8	14	24642157	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	98203	24642157	82707383	347	1785											
KIAA0586	9786	broad.mit.edu	37	chr14	58932657	58932657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtgttacctcatggcGatcagcaatatttgttcagc	8	15	8	10	1	3	0	3	0	0	0	4	1	4	0	2	1	3	3	2	1	3	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:58932657G>A	ENST00000423743.3	+	16	2290	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D775N|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D646N|KIAA0586_ENST00000556134.1_Missense_Mutation_p.D707N	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	646										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCATGGCGATCAGCAATA	0.368													9	60					0	0	1	0	0	A	58932657	G	A	58932657	3	1	80	1	0	0	0	0	1	0	0	0	8228	1058	37	1	1990	1	KIAA0586	14	58932657	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	34290500	58932657	48416883	348	1786											
PLEK2	26499	broad.mit.edu	37	chr14	67862208	67862208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcatgaatagccccGgtgatctcaaaggcccaggc	9	7	11	14	1	1	2	1	2	1	0	2	2	1	2	4	3	3	1	4	3	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:67862208G>A	ENST00000216446.4	-	3	440	c.300C>T	c.(298-300)acC>acT	p.T100T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	100	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		p.T100T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GAATAGCCCCGGTGATCTCAA	0.597													5	71					0	0	1	0	0	A	67862208	G	A	67862208	2	1	80	1	0	0	0	0	0	0	0	1	12102	1103	39	1		1	PLEK2	14	67862208	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8929551	67862208	39487332	349	1787											
COX16	51241	broad.mit.edu	37	chr14	70809398	70809398	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcttcacagcatcatatcGgatttgagaaaactcacgaa	15	10	6	10	2	4	1	3	1	1	1	5	4	4	2	0	1	2	1	0	1	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:70809398G>A	ENST00000389912.6	-	2	261	c.118C>T	c.(118-120)Cga>Tga	p.R40*	COX16_ENST00000557612.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						GCATCATATCGGATTTGAGAA	0.328													14	17					0	0	1	0	0	A	70809398	G	A	70809398	4	1	80	1	0	0	0	0	0	1	0	0	3788	1124	39	1	214	1	COX16	14	70809398	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2947190	70809398	36540142	350	1788											
DPF3	8110	broad.mit.edu	37	chr14	73137976	73137976	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactttctgacgtggaaccGaataagtcctccgtggtacg	9	11	10	11	4	2	1	1	1	1	0	4	3	4	2	3	2	2	1	3	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:73137976G>A	ENST00000541685.1	-	9	954	c.942C>T	c.(940-942)ttC>ttT	p.F314F	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.F324F	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	142					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)		ACGTGGAACCGAATAAGTCCT	0.547													4	25					0	0	1	0	0	A	73137976	G	A	73137976	2	1	80	1	0	0	0	0	0	0	0	1	4745	1049	37	1		1	DPF3	14	73137976	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2328578	73137976	34211564	351	1789											
PTPN21	11099	broad.mit.edu	37	chr14	88945353	88945353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtccctccgggctcGgtagcggcctgacgtggtga	6	7	16	12	4	0	3	0	2	0	1	3	4	2	3	3	4	1	2	3	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:88945353G>A	ENST00000556564.1	-	13	2706	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R808*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	808						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						CTCCGGGCTCGGTAGCGGCCT	0.662													6	33					0	0	1	0	0	A	88945353	G	A	88945353	4	1	80	1	0	0	0	0	0	1	0	0	12838	1124	39	1	1130	1	PTPN21	14	88945353	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15807377	88945353	18404187	352	1790											
PTPN21	11099	broad.mit.edu	37	chr14	89016586	89016586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaggtggcttacctccCgcagctccagcctctgggcc	4	11	10	16	1	2	0	0	0	2	0	4	0	4	0	5	3	3	3	5	3	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:89016586C>T	ENST00000556564.1	-	2	460	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	PTPN21_ENST00000328736.3_Missense_Mutation_p.R59Q|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	59	FERM.					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						GCTTACCTCCCGCAGCTCCAG	0.607													11	44					0	0	1	0	0	T	89016586	C	T	89016586	3	4	80	1	0	0	0	0	1	0	0	0	12838	652	23	1	3420	1	PTPN21	14	89016586	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	71233	89016586	18332954	353	1791											
TTC8	123016	broad.mit.edu	37	chr14	89337996	89337996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactctgacctcatttgaaCgtgccctttctttggctgaa	7	15	8	11	1	3	4	1	4	2	0	3	4	3	4	2	1	2	1	2	1	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:89337996C>T	ENST00000338104.6	+	12	1253	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	TTC8_ENST00000380656.2_Missense_Mutation_p.R385C|TTC8_ENST00000354441.6_Missense_Mutation_p.R120C|TTC8_ENST00000536576.1_Missense_Mutation_p.R146C|TTC8_ENST00000345383.5_Missense_Mutation_p.R375C|TTC8_ENST00000346301.4_Missense_Mutation_p.R345C|TTC8_ENST00000358622.5_Missense_Mutation_p.R187C			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	411					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						CTCATTTGAACGTGCCCTTTC	0.443													36	52					0	0	1	0	0	T	89337996	C	T	89337996	3	4	80	1	0	0	0	0	1	0	0	0	16776	536	19	1	1199	1	TTC8	14	89337996	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	321410	89337996	18011544	354	1792											
SERPINA3	12	broad.mit.edu	37	chr14	95080899	95080899	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccaggagaaccaagacCgagggacacacgtggacctc	13	3	12	13	2	0	3	0	1	0	2	1	7	0	5	4	3	1	0	4	3	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:95080899C>T	ENST00000467132.1	+	2	1269	c.121C>T	c.(121-123)Cga>Tga	p.R41*	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.R41*|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.R41*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	41					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACCAAGACCGAGGGACACA	0.582													18	27					0	0	1	0	0	T	95080899	C	T	95080899	4	4	80	1	0	0	0	0	0	1	0	0	14144	644	23	1	123	1	SERPINA3	14	95080899	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5742903	95080899	12268641	355	1793											
WDR25	79446	broad.mit.edu	37	chr14	100992227	100992227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgagaagctacaaggcGaccatccagcagaccttgga	13	6	12	10	1	0	3	0	2	0	2	1	6	1	4	3	2	3	2	3	2	3	2	rs143825676		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:100992227G>A	ENST00000335290.6	+	5	1348	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	WDR25_ENST00000554998.1_Silent_p.A374A|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.A374A|WDR25_ENST00000542471.2_Silent_p.A117A	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	374										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCTACAAGGCGACCATCCAGC	0.622													4	21					0	0	1	0	0	A	100992227	G	A	100992227	2	1	80	1	0	0	0	0	0	0	0	1	17342	1045	37	1		1	WDR25	14	100992227	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5911328	100992227	6357313	356	1794											
TRAF3	7187	broad.mit.edu	37	chr14	103371684	103371684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcatctggaagattcgcGactacaagcggcggaagcag	11	7	13	10	4	2	1	1	0	1	1	3	4	2	3	0	3	4	2	0	3	4	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:103371684G>A	ENST00000560371.1	+	11	1487	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TRAF3_ENST00000392745.2_Missense_Mutation_p.D424N|TRAF3_ENST00000351691.5_Missense_Mutation_p.D399N|TRAF3_ENST00000347662.4_Missense_Mutation_p.D399N|TRAF3_ENST00000539721.1_Missense_Mutation_p.D341N	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	424	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GAAGATTCGCGACTACAAGCG	0.567													3	17					0	0	1	0	0	A	103371684	G	A	103371684	3	1	80	1	0	0	0	0	1	0	0	0	16500	1058	37	1	1308	1	TRAF3	14	103371684	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2379457	103371684	3977856	357	1795											
JAG2	3714	broad.mit.edu	37	chr14	105618598	105618598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtaggggacacactcatcGcagaacctcccttgccagcc	9	6	11	15	1	1	1	1	0	0	1	3	2	2	2	4	3	3	2	4	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:105618598G>A	ENST00000331782.3	-	6	1222	c.819C>T	c.(817-819)tgC>tgT	p.C273C	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C273C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	273	EGF-like 1.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACACTCATCGCAGAACCTCC	0.647													4	3					0	0	1	0	0	A	105618598	G	A	105618598	2	1	80	1	0	0	0	0	0	0	0	1	7979	1079	38	1		1	JAG2	14	105618598	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2246914	105618598	1730942	358	1796											
APBA2	321	broad.mit.edu	37	chr15	29406154	29406154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcatcatcgagatcaacGggcagagcgtggtggccaca	11	5	13	12	4	2	2	2	0	0	2	3	3	2	2	2	3	2	2	2	3	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:29406154G>A	ENST00000558402.1	+	15	2712	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	APBA2_ENST00000558259.1_Missense_Mutation_p.G705R|APBA2_ENST00000558330.1_Missense_Mutation_p.G693R|APBA2_ENST00000561069.1_Missense_Mutation_p.G705R|APBA2_ENST00000411764.1_Missense_Mutation_p.G693R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	705	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGATCAACGGGCAGAGCGT	0.607													3	38					0	0	1	0	0	A	29406154	G	A	29406154	3	1	80	1	0	0	0	0	1	0	0	0	753	1116	39	1	2155	1	APBA2	15	29406154	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		29406154	73125238	359	1797											
NOP10	55505	broad.mit.edu	37	chr15	34634230	34634230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtttcttgatggtgattCggtgtcgagagtatttgtca	7	16	13	5	3	2	3	1	2	1	1	4	4	2	3	0	2	1	2	0	2	1	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:34634230C>T	ENST00000328848.4	-	2	237	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	NOP10_ENST00000557912.1_Missense_Mutation_p.E26K	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	45					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						GATGGTGATTCGGTGTCGAGA	0.527													12	13					0	0	1	0	0	T	34634230	C	T	34634230	3	4	80	1	0	0	0	0	1	0	0	0	10582	884	31	1	64	1	NOP10	15	34634230	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5228076	34634230	67897162	360	1798											
IVD	3712	broad.mit.edu	37	chr15	40702919	40702919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtggggctcagttacGgtgcccactccaacctctgc	7	8	12	14	1	2	0	1	0	1	0	3	1	3	0	3	3	5	3	3	3	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:40702919G>A	ENST00000249760.2	+	4	722	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	IVD_ENST00000479013.2_Missense_Mutation_p.G100S|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.G130S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	127					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GCTCAGTTACGGTGCCCACTC	0.547													12	14					0	0	1	0	0	A	40702919	G	A	40702919	3	1	80	1	0	0	0	0	1	0	0	0	7972	1116	39	1	402	1	IVD	15	40702919	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6068689	40702919	61828473	361	1799											
TLN2	83660	broad.mit.edu	37	chr15	63029131	63029131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactggcccaggccgcccGtggagtggctgcatcgacaa	9	5	13	14	3	0	0	0	0	0	0	1	2	0	1	3	4	2	2	3	4	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:63029131G>A	ENST00000561311.1	+	28	3643	c.3413G>A	c.(3412-3414)cGt>cAt	p.R1138H	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.R1138H			Q9Y4G6	TLN2_HUMAN	talin 2	1138	Ala-rich.				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						CAGGCCGCCCGTGGAGTGGCT	0.582													21	15					0	0	1	0	0	A	63029131	G	A	63029131	3	1	80	1	0	0	0	0	1	0	0	0	16008	1145	40	1	3515	1	TLN2	15	63029131	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22326212	63029131	39502261	362	1800											
IGDCC3	9543	broad.mit.edu	37	chr15	65622132	65622132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaccccgatgtggatgccGatgacgatgcctgtggtgga	7	9	16	9	3	0	2	0	2	0	0	0	7	0	4	4	3	2	0	4	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:65622132G>A	ENST00000327987.4	-	12	2180	c.1929C>T	c.(1927-1929)atC>atT	p.I643I		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	643										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGGATGCCGATGACGATGC	0.637													9	12					0	0	1	0	0	A	65622132	G	A	65622132	2	1	80	1	0	0	0	0	0	0	0	1	7612	1048	37	1		1	IGDCC3	15	65622132	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2593001	65622132	36909260	363	1801											
TLE3	7090	broad.mit.edu	37	chr15	70347577	70347577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccggggcctgccagggcGtcgtgggggaagggcacggg	5	4	22	10	4	0	0	0	0	0	0	1	1	0	1	3	7	2	1	3	7	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:70347577G>A	ENST00000558939.1	-	15	2775	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	TLE3_ENST00000558201.1_Silent_p.D472D|TLE3_ENST00000559929.1_Silent_p.D476D|TLE3_ENST00000559048.1_Silent_p.D466D|TLE3_ENST00000539550.1_Silent_p.D393D|TLE3_ENST00000451782.2_Silent_p.D463D|TLE3_ENST00000559191.1_Silent_p.D47D|TLE3_ENST00000560589.1_Silent_p.D410D|TLE3_ENST00000557997.1_Silent_p.D458D|TLE3_ENST00000317509.8_Silent_p.D454D|TLE3_ENST00000560939.1_Silent_p.D468D|TLE3_ENST00000442299.2_Silent_p.D458D|TLE3_ENST00000440567.3_Silent_p.D456D|TLE3_ENST00000558379.1_Silent_p.D461D|TLE3_ENST00000557907.1_Silent_p.D458D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	466					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.D466D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGCCAGGGCGTCGTGGGGGA	0.647													23	26					0	0	1	0	0	A	70347577	G	A	70347577	2	1	80	1	0	0	0	0	0	0	0	1	16000	1136	40	1		1	TLE3	15	70347577	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4725445	70347577	32183815	364	1802											
THSD4	79875	broad.mit.edu	37	chr15	71952898	71952898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgactacttaggctcCgacaaagtcgtggacaaatg	12	10	11	8	2	0	2	0	2	0	0	2	4	1	3	1	2	1	1	1	2	4	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:71952898C>T	ENST00000355327.3	+	8	1316	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.S394S|THSD4_ENST00000357769.4_Silent_p.S34S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	394						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTTAGGCTCCGACAAAGTCG	0.507													22	125					0	0	1	0	0	T	71952898	C	T	71952898	2	4	80	1	0	0	0	0	0	0	0	1	15938	639	23	1		1	THSD4	15	71952898	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1605321	71952898	30578494	365	1803											
HCN4	10021	broad.mit.edu	37	chr15	73615896	73615896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgtgtccacctgggaCgggctgctggcgggcgaggc	4	6	20	11	4	0	0	0	0	0	0	1	3	1	1	2	6	1	2	2	6	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:73615896C>T	ENST00000261917.3	-	8	3531	c.2538G>A	c.(2536-2538)ccG>ccA	p.P846P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	846					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCACCTGGGACGGGCTGCTGG	0.667													22	36					0	0	1	0	0	T	73615896	C	T	73615896	2	4	80	1	0	0	0	0	0	0	0	1	7040	523	19	1		1	HCN4	15	73615896	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1662998	73615896	28915496	366	1804											
SCAMP5	192683	broad.mit.edu	37	chr15	75310786	75310786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctaccatctccttcttCggaacgaacattggctcggc	8	12	8	13	3	2	0	0	0	2	0	5	2	2	1	2	3	4	2	2	3	3	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:75310786C>T	ENST00000361900.6	+	7	630	c.423C>T	c.(421-423)ttC>ttT	p.F141F	SCAMP5_ENST00000562212.1_Silent_p.F149F|SCAMP5_ENST00000425597.3_Silent_p.F141F|SCAMP5_ENST00000568081.1_Silent_p.F74F|SCAMP5_ENST00000545456.1_Silent_p.F70F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	141					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTCCTTCTTCGGAACGAACA	0.587													26	115					0	0	1	0	0	T	75310786	C	T	75310786	2	4	80	1	0	0	0	0	0	0	0	1	13927	883	31	1		1	SCAMP5	15	75310786	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1694890	75310786	27220606	367	1805											
AP3B2	8120	broad.mit.edu	37	chr15	83346476	83346476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggcaggtgtcacggactCggccgatgttagttgcacag	8	9	15	9	3	1	1	1	1	0	0	2	3	1	2	1	4	1	4	1	4	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:83346476C>T	ENST00000261722.3	-	12	1532	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	AP3B2_ENST00000535359.1_Missense_Mutation_p.R442Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R410Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	442					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCACGGACTCGGCCGATGTT	0.532													12	5					0	0	1	0	0	T	83346476	C	T	83346476	3	4	80	1	0	0	0	0	1	0	0	0	741	884	31	1	1983	1	AP3B2	15	83346476	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8035690	83346476	19184916	368	1806											
AKAP13	11214	broad.mit.edu	37	chr15	86124462	86124462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgggtctgatgggtccGatgctcttaactgcagtcag	8	11	13	9	1	3	2	1	1	2	1	4	3	4	2	1	2	3	2	1	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:86124462G>A	ENST00000394518.2	+	7	3258	c.3163G>A	c.(3163-3165)Gat>Aat	p.D1055N	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1055					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	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|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						TGATGGGTCCGATGCTCTTAA	0.542													17	39					0	0	1	0	0	A	86124462	G	A	86124462	3	1	80	1	0	0	0	0	1	0	0	0	446	1058	37	1	3185	1	AKAP13	15	86124462	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2777986	86124462	16406930	369	1807											
NGRN	51335	broad.mit.edu	37	chr15	90814997	90814997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagttctttgacagcaacGggaacttcctgtacagaatt	12	11	10	8	1	1	3	0	1	1	2	2	5	2	4	1	1	4	3	1	1	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:90814997G>A	ENST00000379095.3	+	3	861	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	285					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGACAGCAACGGGAACTTCCT	0.498													4	45					0	0	1	0	0	A	90814997	G	A	90814997	3	1	80	1	0	0	0	0	1	0	0	0	10446	1116	39	1	863	1	NGRN	15	90814997	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4690535	90814997	11716395	370	1808											
ALDH1A3	220	broad.mit.edu	37	chr15	101440860	101440860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcctccagggtgttcGtggaggagcaggtctactct	6	9	15	11	2	2	0	0	0	2	0	4	2	3	2	2	5	3	3	2	5	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:101440860G>A	ENST00000329841.5	+	9	1496	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V215M|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	322					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CAGGGTGTTCGTGGAGGAGCA	0.607													5	14					0	0	1	0	0	A	101440860	G	A	101440860	3	1	80	1	0	0	0	0	1	0	0	0	489	1145	40	1	998	1	ALDH1A3	15	101440860	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	10625863	101440860	1090532	371	1809											
SNRNP25	79622	broad.mit.edu	37	chr16	105487	105487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagaagtcaactcccaaaTagccctagaatacggccagg	15	5	10	11	1	1	2	1	0	0	2	2	3	2	3	3	3	3	0	3	3	8	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:105487T>C	ENST00000383018.3	+	2	259	c.98T>C	c.(97-99)aTa>aCa	p.I33T	SNRNP25_ENST00000493672.1_3'UTR	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	33					mRNA processing	U12-type spliceosomal complex				large_intestine(1)|lung(2)	3						AACTCCCAAATAGCCCTAGAA	0.498													5	82					0	0	1	0	0	C	105487	T	C	105487	3	2	80	1	0	0	0	0	1	0	0	0	14907	1406	49	4	104	4	SNRNP25	16	105487	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08		105487	90249266	372	1810											
C1QTNF8	390664	broad.mit.edu	37	chr16	1143802	1143802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagaggaagcggcccGcggccaggtcgaaggcgccg	7	2	18	14	7	0	1	0	0	0	1	1	3	0	2	4	5	2	1	4	5	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:1143802G>A	ENST00000328449.5	-	4	731	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	153	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GAAGCGGCCCGCGGCCAGGTC	0.667													5	44					0	0	1	0	0	A	1143802	G	A	1143802	3	1	80	1	0	0	0	0	1	0	0	0	1982	1087	38	1	304	1	C1QTNF8	16	1143802	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1038315	1143802	89210951	373	1811											
CASKIN1	57524	broad.mit.edu	37	chr16	2231447	2231447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggggactggcagtcggccGgtgtgggctcaggcgggggc	4	6	22	9	3	1	0	1	0	0	0	2	1	1	1	1	9	0	2	1	9	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2231447G>A	ENST00000343516.6	-	18	2014	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	641					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAGTCGGCCGGTGTGGGCTC	0.672													14	6					0	0	1	0	0	A	2231447	G	A	2231447	3	1	80	1	0	0	0	0	1	0	0	0	2684	1116	39	1	2385	1	CASKIN1	16	2231447	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1087645	2231447	88123306	374	1812											
MLST8	64223	broad.mit.edu	37	chr16	2258519	2258519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaacttctccctgatgaCggagctgagcatcaagagcg	10	8	11	12	2	2	4	1	3	1	1	4	5	3	5	2	1	4	2	2	1	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2258519C>T	ENST00000569417.1	+	8	1121	c.767C>T	c.(766-768)aCg>aTg	p.T256M	MLST8_ENST00000565250.1_Missense_Mutation_p.T256M|MLST8_ENST00000382450.4_Missense_Mutation_p.T255M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.T256M|MLST8_ENST00000397124.1_Missense_Mutation_p.T256M|MLST8_ENST00000301724.10_Missense_Mutation_p.T256M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	256					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TCCCTGATGACGGAGCTGAGC	0.647													5	77					0	0	1	0	0	T	2258519	C	T	2258519	3	4	80	1	0	0	0	0	1	0	0	0	9682	536	19	1	793	1	MLST8	16	2258519	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	27072	2258519	88096234	375	1813											
ABCA3	21	broad.mit.edu	37	chr16	2347526	2347526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcccgaggtgggctcGtccagtatcagcacctggag	7	8	13	13	2	1	0	1	0	0	0	4	2	3	1	4	3	2	3	4	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2347526G>A	ENST00000301732.5	-	17	2767	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	ABCA3_ENST00000382381.3_Silent_p.D631D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	689	ABC transporter 1.				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)				AGGTGGGCTCGTCCAGTATCA	0.637													8	28					0	0	1	0	0	A	2347526	G	A	2347526	2	1	80	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2347526	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	89007	2347526	88007227	376	1814											
ABCA3	21	broad.mit.edu	37	chr16	2373673	2373673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgtgtgtaactgaacCgtaggtgatatttcacctgt	8	15	9	9	2	2	2	1	2	1	0	3	2	2	2	3	1	2	2	3	1	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2373673C>T	ENST00000301732.5	-	7	1164	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	ABCA3_ENST00000382381.3_Missense_Mutation_p.R155Q|ABCA3_ENST00000567910.1_Missense_Mutation_p.R155Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	155					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R155L(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)				GTAACTGAACCGTAGGTGATA	0.498													45	208					0	0	1	0	0	T	2373673	C	T	2373673	3	4	80	1	0	0	0	0	1	0	0	0	33	652	23	1	4758	1	ABCA3	16	2373673	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26147	2373673	87981080	377	1815											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139813	3139813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcccgtgtgcaccctcCggtgggccaccaggtgctcg	3	7	14	17	4	0	0	0	0	0	0	3	0	1	0	5	3	2	3	5	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:3139813C>T	ENST00000252463.2	-	5	1544	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R404Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R147Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	486					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGCACCCTCCGGTGGGCCAC	0.731													3	2					0	0	1	0	0	T	3139813	C	T	3139813	3	4	80	1	0	0	0	0	1	0	0	0	18269	652	23	1	724	1	ZSCAN10	16	3139813	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	766140	3139813	87214940	378	1816											
OR1F1	4992	broad.mit.edu	37	chr16	3254391	3254391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgctcatcatcctgtccGtaagcatagactcctgcctg	8	11	7	15	1	2	1	2	0	0	1	5	1	5	1	5	0	3	3	5	0	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:3254391G>A	ENST00000304646.2	+	1	145	c.145G>A	c.(145-147)Gta>Ata	p.V49I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCTGTCCGTAAGCATAGA	0.557													3	53					0	0	1	0	0	A	3254391	G	A	3254391	3	1	80	1	0	0	0	0	1	0	0	0	11004	1145	40	1	147	1	OR1F1	16	3254391	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	114578	3254391	87100362	379	1817											
ADCY9	115	broad.mit.edu	37	chr16	4164055	4164055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatgcccaggcccatctcGatgcagcagtaggcatggtc	9	8	11	13	1	2	0	1	0	1	0	4	1	2	0	2	3	3	4	2	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4164055G>A	ENST00000294016.3	-	2	1927	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	463	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	adenylate cyclase activity|ATP binding|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						GGCCCATCTCGATGCAGCAGT	0.597													6	52					0	0	1	0	0	A	4164055	G	A	4164055	2	1	80	1	0	0	0	0	0	0	0	1	300	1048	37	1		1	ADCY9	16	4164055	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	909664	4164055	86190698	380	1818											
PPL	5493	broad.mit.edu	37	chr16	4933601	4933601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggcttctgagtttcacGaacatgttccagtcaatgag	9	13	9	10	1	3	2	2	2	1	0	5	3	5	2	2	1	1	3	2	1	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4933601G>A	ENST00000345988.2	-	22	5144	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F	PPL_ENST00000590782.2_Silent_p.F1683F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1685					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						TGAGTTTCACGAACATGTTCC	0.592													16	15					0	0	1	0	0	A	4933601	G	A	4933601	2	1	80	1	0	0	0	0	0	0	0	1	12383	1049	37	1		1	PPL	16	4933601	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	769546	4933601	85421152	381	1819											
PPL	5493	broad.mit.edu	37	chr16	4949058	4949058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggccgccagcagctggtCgccctcgctgtgcagtttgt	3	10	13	15	4	0	0	0	0	0	0	3	0	0	0	3	2	3	5	3	2	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4949058C>T	ENST00000345988.2	-	8	921	c.832G>A	c.(832-834)Gac>Aac	p.D278N	PPL_ENST00000590782.2_Missense_Mutation_p.D276N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	278					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						AGCAGCTGGTCGCCCTCGCTG	0.632													21	39					0	0	1	0	0	T	4949058	C	T	4949058	3	4	80	1	0	0	0	0	1	0	0	0	12383	884	31	1	4498	1	PPL	16	4949058	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15457	4949058	85405695	382	1820											
CIITA	4261	broad.mit.edu	37	chr16	11001145	11001145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccctgacgctcctccGggaccggccacttcttctca	6	8	9	18	3	2	2	1	1	2	1	5	3	4	3	5	2	1	1	5	2	0	2	rs141095229		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:11001145G>A	ENST00000324288.8	+	11	1929	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	599	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACGCTCCTCCGGGACCGGCCA	0.622			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								6	12					0	0	1	0	0	A	11001145	G	A	11001145	3	1	80	1	0	0	0	0	1	0	0	0	3450	1116	39	1	1838	1	CIITA	16	11001145	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6052087	11001145	79353608	383	1821											
FAM57B	83723	broad.mit.edu	37	chr16	30036680	30036680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcaggccggcatggcGcccgtaggcccagtacaggt	7	4	17	13	3	0	0	0	0	0	0	0	0	0	0	3	7	1	4	3	7	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30036680G>A	ENST00000380495.4	-	5	1380	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	FAM57B_ENST00000279389.4_Missense_Mutation_p.R167C|FAM57B_ENST00000564806.1_3'UTR	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	217	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGCATGGCGCCCGTAGGCC	0.672													4	6					0	0	1	0	0	A	30036680	G	A	30036680	3	1	80	1	0	0	0	0	1	0	0	0	5624	1087	38	1	179	1	FAM57B	16	30036680	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19035535	30036680	60318073	384	1822											
ZNF764	92595	broad.mit.edu	37	chr16	30566853	30566853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggtccgaggggtaggCgaaggcgcggccacagtccg	7	3	18	13	6	0	0	0	0	0	0	2	2	2	0	4	6	0	2	4	6	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30566853C>T	ENST00000395091.2	-	3	1201	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.A297T			Q96H86	ZN764_HUMAN	zinc finger protein 764	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGGTAGGCGAAGGCGCGG	0.731													5	4					0	0	1	0	0	T	30566853	C	T	30566853	3	4	80	1	0	0	0	0	1	0	0	0	18188	768	27	1	341	1	ZNF764	16	30566853	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	530173	30566853	59787900	385	1823											
ZNF629	23361	broad.mit.edu	37	chr16	30793309	30793309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccgggtgagggccacGcggtcgaggaaggaggccct	6	5	20	10	4	0	1	0	1	0	0	1	4	0	3	3	7	1	0	3	7	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30793309G>A	ENST00000262525.4	-	3	2547	c.2340C>T	c.(2338-2340)cgC>cgT	p.R780R		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					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)			TGAGGGCCACGCGGTCGAGGA	0.647													22	77					0	0	1	0	0	A	30793309	G	A	30793309	2	1	80	1	0	0	0	0	0	0	0	1	18110	1074	38	1		1	ZNF629	16	30793309	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	226456	30793309	59561444	386	1824											
ITGAX	3687	broad.mit.edu	37	chr16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggtcgctttggggCggctctgacagtgctggggg	2	9	19	11	2	1	1	0	1	1	0	2	1	1	1	2	7	1	3	2	7	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					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						CGCTTTGGGGCGGCTCTGACA	0.617													22	58					0	0	1	0	0	T	31374553	C	T	31374553	3	4	80	1	0	0	0	0	1	0	0	0	7933	768	27	1	1622	1	ITGAX	16	31374553	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	581244	31374553	58980200	387	1825											
ZNF423	23090	broad.mit.edu	37	chr16	49669602	49669602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgtctgggtgcctttcCggggcccactggtctccggc	2	10	15	14	3	2	0	0	0	2	0	4	1	3	0	4	5	1	0	4	5	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:49669602C>T	ENST00000561648.1	-	4	3514	c.3461G>A	c.(3460-3462)cGg>cAg	p.R1154Q	ZNF423_ENST00000562871.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1094Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1154Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1154					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGCCTTTCCGGGGCCCACT	0.647													17	38					0	0	1	0	0	T	49669602	C	T	49669602	3	4	80	1	0	0	0	0	1	0	0	0	17955	652	23	1	413	1	ZNF423	16	49669602	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	18295049	49669602	40685151	388	1826											
ZNF423	23090	broad.mit.edu	37	chr16	49672258	49672258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctggctgaaggtgtcctCgcagtagtcgcacatgaagt	8	10	13	10	3	1	2	0	2	1	0	4	2	2	2	1	2	0	4	1	2	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:49672258C>T	ENST00000561648.1	-	4	858	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ZNF423_ENST00000562871.1_Missense_Mutation_p.E209K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E209K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E152K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E152K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E209K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E269K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	269					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGGTGTCCTCGCAGTAGTCG	0.597													6	14					0	0	1	0	0	T	49672258	C	T	49672258	3	4	80	1	0	0	0	0	1	0	0	0	17955	893	31	1	3069	1	ZNF423	16	49672258	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2656	49672258	40682495	389	1827											
TOX3	27324	broad.mit.edu	37	chr16	52498045	52498045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgactctggaggaggcGtgattggtggaatttcgaat	8	12	16	5	2	2	2	0	2	2	0	3	6	2	5	0	6	0	0	0	6	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:52498045G>A	ENST00000219746.9	-	3	493	c.209C>T	c.(208-210)aCg>aTg	p.T70M	TOX3_ENST00000407228.3_Missense_Mutation_p.T65M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	70					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGAGGAGGCGTGATTGGTGG	0.488													19	48					0	0	1	0	0	A	52498045	G	A	52498045	3	1	80	1	0	0	0	0	1	0	0	0	16440	1145	40	1	1541	1	TOX3	16	52498045	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2825787	52498045	37856708	390	1828											
DPEP2	64174	broad.mit.edu	37	chr16	68026047	68026047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctgctccagggtgaggCgcagggcatcccggtcctgg	6	7	15	13	2	1	1	0	1	1	0	4	1	4	1	3	5	1	3	3	5	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68026047C>T	ENST00000412757.2	-	5	1105	c.440G>A	c.(439-441)cGc>cAc	p.R147H	DPEP2_ENST00000393847.1_Missense_Mutation_p.R147H|DPEP2_ENST00000572888.1_Missense_Mutation_p.R147H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	147					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CAGGGTGAGGCGCAGGGCATC	0.602													26	22					0	0	1	0	0	T	68026047	C	T	68026047	3	4	80	1	0	0	0	0	1	0	0	0	4741	768	27	1	1052	1	DPEP2	16	68026047	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15528002	68026047	22328706	391	1829											
SMPD3	55512	broad.mit.edu	37	chr16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgccaccgatgcgcaCgatgcaggcatcctccgggc	6	6	11	18	5	0	0	0	0	0	0	4	2	3	0	5	2	2	3	5	2	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726													12	3					0	0	1	0	0	T	68405352	C	T	68405352	3	4	80	1	0	0	0	0	1	0	0	0	14860	536	19	1	1262	1	SMPD3	16	68405352	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	379305	68405352	21949401	392	1830											
CDH3	1001	broad.mit.edu	37	chr16	68732183	68732183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggctccgacgccgcGtccctgagctccctcacctc	4	6	11	20	5	1	1	1	1	0	0	5	2	4	1	5	2	2	3	5	2	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68732183G>A	ENST00000264012.4	+	16	2914	c.2370G>A	c.(2368-2370)gcG>gcA	p.A790A	CDH3_ENST00000581171.1_Silent_p.A735A|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	790	Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCGACGCCGCGTCCCTGAGCT	0.612													7	84					0	0	1	0	0	A	68732183	G	A	68732183	2	1	80	1	0	0	0	0	0	0	0	1	3133	1132	40	1		1	CDH3	16	68732183	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	326831	68732183	21622570	393	1831											
ZFHX3	463	broad.mit.edu	37	chr16	72993166	72993166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcacaaacgaacggacGtacccaaaggagagtttgca	14	6	12	9	3	1	1	1	0	0	1	1	4	1	2	1	3	4	3	1	3	4	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:72993166G>A	ENST00000268489.5	-	2	1551	c.879C>T	c.(877-879)taC>taT	p.Y293Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	293					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)				ACGAACGGACGTACCCAAAGG	0.493													30	25					0	0	1	0	0	A	72993166	G	A	72993166	2	1	80	1	0	0	0	0	0	0	0	1	17692	1140	40	1		1	ZFHX3	16	72993166	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4260983	72993166	17361587	394	1832											
ZFHX3	463	broad.mit.edu	37	chr16	72993655	72993655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtagacgatctccccGgccaggttctccacgtcact	6	9	11	15	3	3	1	1	0	2	1	5	2	3	1	4	4	0	3	4	4	1	2	rs144573608		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:72993655G>A	ENST00000268489.5	-	2	1062	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	130					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)				CGATCTCCCCGGCCAGGTTCT	0.706													15	19					0	0	1	0	0	A	72993655	G	A	72993655	2	1	80	1	0	0	0	0	0	0	0	1	17692	1103	39	1		1	ZFHX3	16	72993655	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	489	72993655	17361098	395	1833											
CLEC18B	497190	broad.mit.edu	37	chr16	74452059	74452059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccacttcaacaaaggaCgccaagcccgcgggcagcag	12	3	11	15	3	1	1	1	1	0	0	1	2	1	2	3	2	3	2	3	2	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:74452059C>T	ENST00000339953.5	-	3	475	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	118	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAACAAAGGACGCCAAGCCCG	0.667													10	19					0	0	1	0	0	T	74452059	C	T	74452059	2	4	80	1	0	0	0	0	0	0	0	1	3526	523	19	1		1	CLEC18B	16	74452059	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1458404	74452059	15902694	396	1834											
WDR59	79726	broad.mit.edu	37	chr16	74919625	74919625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctctcagaccccaaCggtagaggatttccccatag	9	10	8	14	1	2	2	1	0	2	2	5	3	3	3	4	2	1	2	4	2	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:74919625C>T	ENST00000262144.6	-	25	2745	c.2615G>A	c.(2614-2616)cGt>cAt	p.R872H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	872										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGACCCCAACGGTAGAGGAT	0.463													27	26					0	0	1	0	0	T	74919625	C	T	74919625	3	4	80	1	0	0	0	0	1	0	0	0	17368	536	19	1	317	1	WDR59	16	74919625	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	467566	74919625	15435128	397	1835											
ZFP1	162239	broad.mit.edu	37	chr16	75203964	75203964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatcagaagattcacaCgggggagaaacgctatgagt	15	7	11	8	2	2	4	2	1	0	3	2	5	2	4	0	2	2	1	0	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:75203964C>T	ENST00000393430.2	+	4	1080	c.956C>T	c.(955-957)aCg>aTg	p.T319M	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.T319M|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.T286M			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAGATTCACACGGGGGAGAAA	0.418													20	35					0	0	1	0	0	T	75203964	C	T	75203964	3	4	80	1	0	0	0	0	1	0	0	0	17694	536	19	1	966	1	ZFP1	16	75203964	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	284339	75203964	15150789	398	1836											
TAF1C	9013	broad.mit.edu	37	chr16	84212998	84212998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggcttcccccaggCgctcactgagcttgtcctct	4	10	9	18	1	2	1	1	1	1	0	4	1	4	1	4	2	2	3	4	2	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84212998C>T	ENST00000567759.1	-	14	2341	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	TAF1C_ENST00000341690.6_Missense_Mutation_p.R626H|TAF1C_ENST00000566732.1_Missense_Mutation_p.R694H|TAF1C_ENST00000570117.1_Missense_Mutation_p.R388H|TAF1C_ENST00000378541.4_Missense_Mutation_p.R720H|TAF1C_ENST00000541676.1_Missense_Mutation_p.R627H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	720					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TTCCCCCAGGCGCTCACTGAG	0.726													15	19					0	0	1	0	0	T	84212998	C	T	84212998	3	4	80	1	0	0	0	0	1	0	0	0	15578	768	27	1	454	1	TAF1C	16	84212998	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9009034	84212998	6141755	399	1837											
ADAD2	161931	broad.mit.edu	37	chr16	84229876	84229876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccccggtggccccttccGaacccacccctgacacctgc	5	5	9	22	2	0	1	0	1	0	0	1	2	1	1	9	3	2	0	9	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84229876G>A	ENST00000268624.3	+	9	1765	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	ADAD2_ENST00000315906.5_Missense_Mutation_p.E476K|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	476	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGCCCCTTCCGAACCCACCCC	0.697													9	51					0	0	1	0	0	A	84229876	G	A	84229876	3	1	80	1	0	0	0	0	1	0	0	0	231	1059	37	1	1706	1	ADAD2	16	84229876	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16878	84229876	6124877	400	1838											
ATP2C2	9914	broad.mit.edu	37	chr16	84482210	84482210	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgcaccatgtacaacaaCgggggcatccccctgccgct	9	7	9	16	2	0	0	0	0	0	0	1	0	1	0	4	2	6	4	4	2	4	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84482210C>T	ENST00000416219.2	+	17	1664	c.1575C>T	c.(1573-1575)aaC>aaT	p.N525N	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.N525N			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	525					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						TGTACAACAACGGGGGCATCC	0.552													19	33					0	0	1	0	0	T	84482210	C	T	84482210	2	4	80	1	0	0	0	0	0	0	0	1	1143	535	19	1		1	ATP2C2	16	84482210	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	252334	84482210	5872543	401	1839											
JPH3	57338	broad.mit.edu	37	chr16	87723889	87723889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccggggcttgggggaCgaccaccgccccgaggaccg	5	3	17	16	5	0	0	0	0	0	0	0	4	0	2	7	5	1	1	7	5	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:87723889C>T	ENST00000284262.2	+	4	2165	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	641					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTTGGGGGACGACCACCGCC	0.667													4	4					0	0	1	0	0	T	87723889	C	T	87723889	2	4	80	1	0	0	0	0	0	0	0	1	8006	535	19	1		1	JPH3	16	87723889	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3241679	87723889	2630864	402	1840											
SPG7	6687	broad.mit.edu	37	chr16	89614493	89614493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgtgcacactctcaacttCgagtacgccgtggagcgcgt	7	9	11	14	6	1	0	1	0	1	0	4	2	2	1	2	1	4	2	2	1	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:89614493C>T	ENST00000268704.2	+	12	1650	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	545			F -> L.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTCTCAACTTCGAGTACGCCG	0.627													14	54					0	0	1	0	0	T	89614493	C	T	89614493	2	4	80	1	0	0	0	0	0	0	0	1	15100	883	31	1		1	SPG7	16	89614493	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1890604	89614493	740260	403	1841											
PRPF8	10594	broad.mit.edu	37	chr17	1559772	1559772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttaaggatgagatcccCgaatttttccaccttgagac	10	12	9	10	1	0	2	0	2	0	2	2	6	2	3	4	2	0	1	4	2	2	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:1559772C>T	ENST00000572621.1	-	35	5972	c.5707G>A	c.(5707-5709)Ggg>Agg	p.G1903R	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1903R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1903	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA 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)		ATGAGATCCCCGAATTTTTCC	0.483													13	54					0	0	1	0	0	T	1559772	C	T	1559772	3	4	80	1	0	0	0	0	1	0	0	0	12627	652	23	1	1332	1	PRPF8	17	1559772	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1559772	79635438	404	1842											
EIF5A	1984	broad.mit.edu	37	chr17	7213113	7213113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactggcaagcacggccaCgccaaggttagaatttcacc	13	6	10	12	2	1	2	1	0	0	2	1	2	1	2	3	3	1	3	3	3	5	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7213113C>T	ENST00000336458.8	+	2	560	c.159C>T	c.(157-159)caC>caT	p.H53H	EIF5A_ENST00000419711.2_Silent_p.H53H|EIF5A_ENST00000573542.1_Silent_p.H53H|EIF5A_ENST00000336452.7_Silent_p.H83H|EIF5A_ENST00000416016.2_Silent_p.H53H|EIF5A_ENST00000571955.1_Silent_p.H53H|EIF5A_ENST00000576930.1_Silent_p.H53H|EIF5A_ENST00000572815.1_Silent_p.H53H	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	53	DOHH-binding.				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						AGCACGGCCACGCCAAGGTTA	0.527													5	49					0	0	1	0	0	T	7213113	C	T	7213113	2	4	80	1	0	0	0	0	0	0	0	1	5069	535	19	1		1	EIF5A	17	7213113	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5653341	7213113	73982097	405	1843											
FXR2	9513	broad.mit.edu	37	chr17	7499190	7499190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacccaactcaatggcGgtcaccccaggtacttttcg	8	11	7	15	2	4	0	3	0	1	0	5	0	4	0	3	3	2	1	3	3	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7499190G>A	ENST00000250113.7	-	8	1117	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	261	KH 1.					cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACTCAATGGCGGTCACCCCAG	0.547													9	42					0	0	1	0	0	A	7499190	G	A	7499190	2	1	80	1	0	0	0	0	0	0	0	1	6151	1103	39	1		1	FXR2	17	7499190	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	286077	7499190	73696020	406	1844											
DNAH2	146754	broad.mit.edu	37	chr17	7696114	7696114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacctccatcgcccagagcGttctgcagtccctgccctcc	6	8	8	19	2	1	2	0	0	1	2	5	2	4	2	6	0	3	2	6	0	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7696114G>A	ENST00000572933.1	+	47	8745	c.7285G>A	c.(7285-7287)Gtt>Att	p.V2429I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2429	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V2429L(1)		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)				CGCCCAGAGCGTTCTGCAGTC	0.632													10	26					0	0	1	0	0	A	7696114	G	A	7696114	3	1	80	1	0	0	0	0	1	0	0	0	4630	1145	40	1	7467	1	DNAH2	17	7696114	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	196924	7696114	73499096	407	1845											
CNTROB	116840	broad.mit.edu	37	chr17	7852791	7852791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtgggcaccctgcccCgagtagcatgaggagccggg	10	4	16	11	2	0	1	0	1	0	0	0	4	0	2	4	3	3	3	4	3	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7852791C>T	ENST00000380262.3	+	19	3666	c.2741C>T	c.(2740-2742)cCg>cTg	p.P914L	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P893L|CNTROB_ENST00000563694.1_Missense_Mutation_p.P892L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	892					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCCTGCCCCGAGTAGCATG	0.547													3	46					0	0	1	0	0	T	7852791	C	T	7852791	3	4	80	1	0	0	0	0	1	0	0	0	3674	652	23	1	2815	1	CNTROB	17	7852791	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	156677	7852791	73342419	408	1846											
ARHGEF15	22899	broad.mit.edu	37	chr17	8221893	8221893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccccttacctagatcatCgagcgttgcagcgctgaggt	7	10	11	13	3	1	2	1	1	0	1	3	3	2	2	3	1	4	4	3	1	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:8221893C>T	ENST00000361926.3	+	11	1895	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ARHGEF15_ENST00000421050.1_Silent_p.I595I|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	595	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.I595I(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTAGATCATCGAGCGTTGCA	0.597													8	6					0	0	1	0	0	T	8221893	C	T	8221893	2	4	80	1	0	0	0	0	0	0	0	1	895	874	31	1		1	ARHGEF15	17	8221893	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	369102	8221893	72973317	409	1847											
WDR16	146845	broad.mit.edu	37	chr17	9532119	9532119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgacttcatgagggacGgcaaaagcatcatttcaggt	12	9	11	9	2	3	1	3	1	0	0	4	3	3	2	0	3	1	3	0	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:9532119G>A	ENST00000352665.5	+	9	1225	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	WDR16_ENST00000299764.5_Missense_Mutation_p.G396S|WDR16_ENST00000396219.3_Missense_Mutation_p.G318S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	386						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CATGAGGGACGGCAAAAGCAT	0.522													12	41					0	0	1	0	0	A	9532119	G	A	9532119	3	1	80	1	0	0	0	0	1	0	0	0	17336	1116	39	1	1190	1	WDR16	17	9532119	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1310226	9532119	71663091	410	1848											
USP43	124739	broad.mit.edu	37	chr17	9631533	9631533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgagaagtcagcatcgccGaggtccaacgtcgcccttcc	9	7	11	14	4	1	1	1	1	0	1	5	4	3	1	4	1	2	1	4	1	2	1	rs61729507		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:9631533G>A	ENST00000285199.7	+	15	2694	c.2598G>A	c.(2596-2598)ccG>ccA	p.P866P	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.P861P	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CAGCATCGCCGAGGTCCAACG	0.607													5	23					0	0	1	0	0	A	9631533	G	A	9631533	2	1	80	1	0	0	0	0	0	0	0	1	17134	1045	37	1		1	USP43	17	9631533	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	99414	9631533	71563677	411	1849											
MED9	55090	broad.mit.edu	37	chr17	17394702	17394702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcatccacctgagccccGaacagcagcagcagcagctg	10	3	11	17	2	0	1	0	1	0	0	1	2	1	1	5	1	7	6	5	1	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:17394702G>A	ENST00000268711.3	+	2	390	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	p.E112K(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGAGCCCCGAACAGCAGCA	0.582													25	27					0	0	1	0	0	A	17394702	G	A	17394702	3	1	80	1	0	0	0	0	1	0	0	0	9504	1059	37	1	340	1	MED9	17	17394702	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7763169	17394702	63800508	412	1850											
MAP2K3	5606	broad.mit.edu	37	chr17	21201792	21201792	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcacccaaccccacGtgagtctgcctcagtttctc	7	8	6	20	2	3	1	1	1	2	0	4	1	3	1	6	0	2	2	6	0	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:21201792G>A	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|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								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577													18	81					0	0	1	0	0	A	21201792	G	A	21201792	5	1	80	1	0	0	0	0	0	0	1	0	9288	1159	40	1	123	1	MAP2K3	17	21201792	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3807090	21201792	59993418	413	1851											
SPAG5	10615	broad.mit.edu	37	chr17	26912882	26912882	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgcctgtcaccttacCgcatccttgcctctgagagc	9	10	7	15	1	2	1	1	1	1	1	3	2	3	1	5	0	4	1	5	0	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:26912882C>T	ENST00000321765.5	-	7	2072	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	580					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCACCTTACCGCATCCTTGC	0.498													22	89					0	0	1	0	0	T	26912882	C	T	26912882	5	4	80	1	0	0	0	0	0	0	1	0	15037	666	23	1	1913	1	SPAG5	17	26912882	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5711090	26912882	54282328	414	1852											
NUFIP2	57532	broad.mit.edu	37	chr17	27613317	27613317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagtccgtttctccagctcGtaagccttgggaaacacagg	9	10	10	12	2	1	0	0	0	1	0	4	1	2	1	3	2	3	3	3	2	3	4	rs150088850		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27613317G>A	ENST00000225388.4	-	2	1753	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	565						nucleus|polysomal ribosome	protein binding|RNA binding	p.Y565Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCTCCAGCTCGTAAGCCTTGG	0.463													16	55					0	0	1	0	0	A	27613317	G	A	27613317	2	1	80	1	0	0	0	0	0	0	0	1	10797	1140	40	1		1	NUFIP2	17	27613317	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	700435	27613317	53581893	415	1853											
GIT1	28964	broad.mit.edu	37	chr17	27902157	27902157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttctctgagcagggcacGaagctgcggggagaagggag	10	6	17	8	2	2	2	0	1	2	1	3	5	2	3	0	4	3	3	0	4	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27902157G>A	ENST00000225394.3	-	19	2261	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	GIT1_ENST00000579937.1_Silent_p.F671F|GIT1_ENST00000394869.3_Silent_p.F680F|GIT1_ENST00000581348.1_Silent_p.F657F|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	671	Interaction with PXN and TGFB1I1 (By similarity).				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)		AGCAGGGCACGAAGCTGCGGG	0.607													16	30					0	0	1	0	0	A	27902157	G	A	27902157	2	1	80	1	0	0	0	0	0	0	0	1	6438	1049	37	1		1	GIT1	17	27902157	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	288840	27902157	53293053	416	1854											
GIT1	28964	broad.mit.edu	37	chr17	27903361	27903361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcggtgtgtgctcccGcctggcgccatgggtgtgtg	1	11	16	13	3	0	0	0	0	0	0	2	0	2	0	4	3	2	1	4	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27903361G>A	ENST00000225394.3	-	14	1736	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	GIT1_ENST00000579937.1_Silent_p.G496G|GIT1_ENST00000394869.3_Silent_p.G505G|GIT1_ENST00000581348.1_Silent_p.G505G|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	496					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)		GTGTGCTCCCGCCTGGCGCCA	0.677													6	44					0	0	1	0	0	A	27903361	G	A	27903361	2	1	80	1	0	0	0	0	0	0	0	1	6438	1074	38	1		1	GIT1	17	27903361	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1204	27903361	53291849	417	1855											
CSF3	1440	broad.mit.edu	37	chr17	38173107	38173107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggtgccatgccggccttCgcctctgctttccagcgccg	3	9	12	17	4	1	0	0	0	1	0	3	0	2	0	6	2	4	1	6	2	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:38173107C>T	ENST00000331769.2	+	4	714	c.498C>T	c.(496-498)ttC>ttT	p.F166F	CSF3_ENST00000225474.2_Silent_p.F173F|CSF3_ENST00000394149.3_Silent_p.F170F|CSF3_ENST00000577675.1_Silent_p.F130F|CSF3_ENST00000394148.3_Silent_p.F137F			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	173					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCGGCCTTCGCCTCTGCTT	0.647													5	41					0	0	1	0	0	T	38173107	C	T	38173107	2	4	80	1	0	0	0	0	0	0	0	1	3961	883	31	1		1	CSF3	17	38173107	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10269746	38173107	43022103	418	1856											
CASC3	22794	broad.mit.edu	37	chr17	38320407	38320407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctttcctgcaaccaCgggaacttcgaggtaggtat	9	11	10	11	2	1	0	0	0	1	0	3	2	2	1	3	3	4	3	3	3	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:38320407C>T	ENST00000264645.7	+	7	1685	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	487	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCTGCAACCACGGGAACTTCG	0.493													4	6					0	0	1	0	0	T	38320407	C	T	38320407	3	4	80	1	0	0	0	0	1	0	0	0	2679	527	19	1	1485	1	CASC3	17	38320407	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	147300	38320407	42874803	419	1857											
KAT2A	2648	broad.mit.edu	37	chr17	40271407	40271407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacatgagtggtttcgtagCgggggaggctatcacagctc	9	9	15	8	2	1	2	1	1	0	1	3	3	1	3	0	4	2	4	0	4	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:40271407C>T	ENST00000225916.5	-	6	982	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	310					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						GGTTTCGTAGCGGGGGAGGCT	0.587													29	33					0	0	1	0	0	T	40271407	C	T	40271407	3	4	80	1	0	0	0	0	1	0	0	0	8025	768	27	1	1636	1	KAT2A	17	40271407	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1951000	40271407	40923803	420	1858											
HSD17B1	3292	broad.mit.edu	37	chr17	40706497	40706497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcccagaggaggtgcTggaccgcacggacatccaca	10	3	15	13	2	0	1	0	0	0	1	1	4	1	4	3	5	2	3	3	5	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:40706497T>C	ENST00000585807.1	+	5	4334	c.614T>C	c.(613-615)cTg>cCg	p.L205P	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.L206P|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	205					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GAGGAGGTGCTGGACCGCACG	0.637													11	5					0	0	1	0	0	C	40706497	T	C	40706497	3	2	80	1	0	0	0	0	1	0	0	0	7419	1580	55	4	632	4	HSD17B1	17	40706497	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	435090	40706497	40488713	421	1859											
HDAC5	10014	broad.mit.edu	37	chr17	42162392	42162392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggaggggctcccttacctCgcacttgctaagcaggcctg	8	8	12	13	1	0	0	0	0	0	0	2	1	1	1	3	4	3	4	3	4	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:42162392C>T	ENST00000225983.6	-	15	2508	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	HDAC5_ENST00000586802.1_Missense_Mutation_p.E728K|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000393622.2_Missense_Mutation_p.E728K			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	728	Histone deacetylase.				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	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-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)		TCCCTTACCTCGCACTTGCTA	0.552													14	24					0	0	1	0	0	T	42162392	C	T	42162392	3	4	80	1	0	0	0	0	1	0	0	0	7051	893	31	1	1238	1	HDAC5	17	42162392	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1455895	42162392	39032818	422	1860											
HDAC5	10014	broad.mit.edu	37	chr17	42171083	42171083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcagttgctgctcccGcagtgtggggtccacagagc	5	9	14	13	1	0	1	0	0	0	1	2	1	2	1	2	2	5	6	2	2	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:42171083G>A	ENST00000225983.6	-	4	540	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	HDAC5_ENST00000586802.1_Missense_Mutation_p.R72W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R72W|HDAC5_ENST00000393622.2_Missense_Mutation_p.R72W			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	72					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	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-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)		tgctgctcccgcAGTGTGGGG	0.652													3	10					0	0	1	0	0	A	42171083	G	A	42171083	3	1	80	1	0	0	0	0	1	0	0	0	7051	1086	38	1	3250	1	HDAC5	17	42171083	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8691	42171083	39024127	423	1861											
FMNL1	752	broad.mit.edu	37	chr17	43320614	43320614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacactcattgaggccaacCgggccaagaacttggccatc	11	6	10	14	2	1	2	1	1	0	1	2	3	1	2	4	3	2	0	4	3	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:43320614C>T	ENST00000331495.3	+	17	2476	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	FMNL1_ENST00000328118.3_Missense_Mutation_p.R714W|FMNL1_ENST00000587489.1_Missense_Mutation_p.R292W	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	714	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase 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						TGAGGCCAACCGGGCCAAGAA	0.627													6	39					0	0	1	0	0	T	43320614	C	T	43320614	3	4	80	1	0	0	0	0	1	0	0	0	5984	643	23	1	2206	1	FMNL1	17	43320614	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1149531	43320614	37874596	424	1862											
CDC27	996	broad.mit.edu	37	chr17	45258967	45258967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggaaaaccgcatctcGgtaagcatagtggtttagtg	11	10	13	7	3	1	0	0	0	1	0	2	2	1	1	1	3	3	4	1	3	5	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:45258967G>A	ENST00000066544.3	-	2	157	c.64C>T	c.(64-66)Cga>Tga	p.R22*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.P10L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCGCATCTCGGTAAGCATAG	0.363													5	21					0	0	1	0	0	A	45258967	G	A	45258967	4	1	80	1	0	0	0	0	0	1	0	0	3088	1124	39	1	2500	1	CDC27	17	45258967	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1938353	45258967	35936243	425	1863											
KPNB1	3837	broad.mit.edu	37	chr17	45742469	45742469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacaccagcaagttttatgCgaagggagcactacagtatc	13	8	10	10	1	0	0	0	0	0	0	1	2	0	1	1	1	4	5	1	1	5	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:45742469C>T	ENST00000290158.4	+	9	1351	c.944C>T	c.(943-945)gCg>gTg	p.A315V	KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000540627.1_Missense_Mutation_p.A170V|KPNB1_ENST00000535458.2_Missense_Mutation_p.A170V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	315					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAGTTTTATGCGAAGGGAGCA	0.458													4	19					0	0	1	0	0	T	45742469	C	T	45742469	3	4	80	1	0	0	0	0	1	0	0	0	8478	768	27	1	978	1	KPNB1	17	45742469	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	483502	45742469	35452741	426	1864											
GIP	2695	broad.mit.edu	37	chr17	47041771	47041771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatgaaagtcccttccGcgtacctggggcctcgaggt	7	9	12	13	3	0	2	0	2	0	0	3	3	2	2	4	3	1	1	4	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47041771G>A	ENST00000357424.2	-	3	258	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	53					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						AGTCCCTTCCGCGTACCTGGG	0.552													15	48					0	0	1	0	0	A	47041771	G	A	47041771	3	1	80	1	0	0	0	0	1	0	0	0	6433	1087	38	1	319	1	GIP	17	47041771	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1299302	47041771	34153439	427	1865											
B4GALNT2	124872	broad.mit.edu	37	chr17	47233948	47233948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctccagtttgaaggacccGatgcccccgtctatgaggtg	7	9	12	13	2	1	2	0	2	1	0	2	4	2	3	5	2	1	1	5	2	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47233948G>A	ENST00000300404.2	+	5	720	c.661G>A	c.(661-663)Gat>Aat	p.D221N	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	221					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	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)			TGAAGGACCCGATGCCCCCGT	0.562													35	30					0	0	1	0	0	A	47233948	G	A	47233948	3	1	80	1	0	0	0	0	1	0	0	0	1265	1058	37	1	697	1	B4GALNT2	17	47233948	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	192177	47233948	33961262	428	1866											
NGFR	4804	broad.mit.edu	37	chr17	47590285	47590285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcgccacactggacGccctcctggccgccctgcgc	6	4	12	19	4	0	0	0	0	0	0	1	2	1	2	5	3	2	0	5	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47590285G>A	ENST00000172229.3	+	6	1323	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A306T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	400	Death.				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		p.A400T(1)		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)					CACACTGGACGCCCTCCTGGC	0.682													7	8					0	0	1	0	0	A	47590285	G	A	47590285	3	1	80	1	0	0	0	0	1	0	0	0	10443	1087	38	1	1220	1	NGFR	17	47590285	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	356337	47590285	33604925	429	1867											
MYCBPAP	84073	broad.mit.edu	37	chr17	48597028	48597028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacagtgggttctggagtCgactggaatacttgggagat	11	10	15	5	1	1	2	0	0	1	2	2	6	1	4	0	4	2	1	0	4	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:48597028C>T	ENST00000323776.5	+	7	1087	c.925C>T	c.(925-927)Cga>Tga	p.R309*	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.R272*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	272					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)			GTTCTGGAGTCGACTGGAATA	0.532													5	22					0	0	1	0	0	T	48597028	C	T	48597028	4	4	80	1	0	0	0	0	0	1	0	0	10067	876	31	1	951	1	MYCBPAP	17	48597028	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1006743	48597028	32598182	430	1868											
CUEDC1	404093	broad.mit.edu	37	chr17	55950132	55950132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtactgcttccagcGgctctcctggtctccgggcc	3	10	11	17	2	2	0	0	0	2	0	6	0	4	0	5	4	3	3	5	4	1	2	rs150759994		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:55950132G>A	ENST00000577830.1	-	5	1089	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CUEDC1_ENST00000360238.2_Missense_Mutation_p.R226C|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R89C|CUEDC1_ENST00000407144.2_Missense_Mutation_p.R226C	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	226										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGCTTCCAGCGGCTCTCCTGG	0.637													9	56					0	0	1	0	0	A	55950132	G	A	55950132	3	1	80	1	0	0	0	0	1	0	0	0	4075	1116	39	1	508	1	CUEDC1	17	55950132	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7353104	55950132	25245078	431	1869											
RNF43	54894	broad.mit.edu	37	chr17	56435311	56435311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtgggttagagagcCgccccgaaggggctgctgag	7	6	18	10	2	0	2	0	1	0	1	0	4	0	2	3	4	2	4	3	4	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:56435311C>T	ENST00000584437.1	-	8	3781	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	RNF43_ENST00000577716.1_Missense_Mutation_p.R609Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R609Q|RNF43_ENST00000500597.2_Missense_Mutation_p.R568Q|RNF43_ENST00000583753.1_Missense_Mutation_p.R568Q|RNF43_ENST00000581868.1_Missense_Mutation_p.R482Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.R482Q			Q68DV7	RNF43_HUMAN	ring finger protein 43	609	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTAGAGAGCCGCCCCGAAGG	0.637													19	27					0	0	1	0	0	T	56435311	C	T	56435311	3	4	80	1	0	0	0	0	1	0	0	0	13547	652	23	1	533	1	RNF43	17	56435311	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	485179	56435311	24759899	432	1870											
CYB561	1534	broad.mit.edu	37	chr17	61514900	61514900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggctgccgcggccccGccctccatgctgaggcaaac	5	5	15	16	3	0	1	0	1	0	0	1	1	1	1	5	5	3	3	5	5	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:61514900G>A	ENST00000584031.1	-	2	308	c.9C>T	c.(7-9)ggC>ggT	p.G3G	CYB561_ENST00000582034.1_Intron|CYB561_ENST00000360793.3_Silent_p.G3G|CYB561_ENST00000448884.2_Silent_p.G3G|CYB561_ENST00000582997.1_Silent_p.G10G|CYB561_ENST00000542042.1_Silent_p.G70G|CYB561_ENST00000392976.1_Silent_p.G3G|CYB561_ENST00000582297.1_Silent_p.G3G|CYB561_ENST00000581573.1_Silent_p.G3G|CYB561_ENST00000392975.2_Silent_p.G3G			P49447	CY561_HUMAN	cytochrome b561	3					electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CCGCGGCCCCGCCCTCCATGC	0.687													9	11					0	0	1	0	0	A	61514900	G	A	61514900	2	1	80	1	0	0	0	0	0	0	0	1	4142	1074	38	1		1	CYB561	17	61514900	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5079589	61514900	19680310	433	1871											
SCN4A	6329	broad.mit.edu	37	chr17	62018497	62018497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtggtggtgatgggctcGtaggacaccttggaggggtt	6	10	20	5	1	0	1	0	1	0	0	1	3	0	3	1	8	0	3	1	8	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:62018497G>A	ENST00000435607.1	-	24	5221	c.5145C>T	c.(5143-5145)taC>taT	p.Y1715Y	SCN4A_ENST00000578147.1_Silent_p.Y1715Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1715					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGATGGGCTCGTAGGACACCT	0.607													24	28					0	0	1	0	0	A	62018497	G	A	62018497	2	1	80	1	0	0	0	0	0	0	0	1	13974	1140	40	1		1	SCN4A	17	62018497	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	503597	62018497	19176713	434	1872											
KCNJ16	3773	broad.mit.edu	37	chr17	68129132	68129132	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagctcctatgttcccCgagaaattctctggggccat	9	11	9	12	1	1	2	0	0	1	2	4	3	3	2	4	2	1	2	4	2	4	4	rs142625269		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:68129132C>T	ENST00000585558.1	+	4	1397	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R302*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R302*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.R302*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R341*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R302*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	302					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTATGTTCCCCGAGAAATTCT	0.393													21	47					0	0	1	0	0	T	68129132	C	T	68129132	4	4	80	1	0	0	0	0	0	1	0	0	8094	644	23	1	906	1	KCNJ16	17	68129132	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6110635	68129132	13066078	435	1873											
LLGL2	3993	broad.mit.edu	37	chr17	73569290	73569290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctcaagccccaggtgCgctacagctgcatccgccgg	6	6	11	18	3	1	0	1	0	0	0	2	0	2	0	5	2	6	4	5	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:73569290C>T	ENST00000392550.3	+	20	2773	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	LLGL2_ENST00000577200.1_Missense_Mutation_p.R886C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	886					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCCCCAGGTGCGCTACAGCTG	0.652													13	52					0	0	1	0	0	T	73569290	C	T	73569290	3	4	80	1	0	0	0	0	1	0	0	0	8875	768	27	1	2765	1	LLGL2	17	73569290	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5440158	73569290	7625920	436	1874											
CDK3	1018	broad.mit.edu	37	chr17	73999371	73999371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgaagacacatggccCggggtcacccagctgcctga	9	4	12	16	2	1	2	1	1	0	1	1	3	1	2	4	3	3	1	4	3	1	0	rs141477491		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:73999371C>T	ENST00000425876.2	+	6	772	c.684C>T	c.(682-684)ccC>ccT	p.P228P	CDK3_ENST00000448471.1_Silent_p.P228P|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	228	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						ACACATGGCCCGGGGTCACCC	0.562													10	79					0	0	1	0	0	T	73999371	C	T	73999371	2	4	80	1	0	0	0	0	0	0	0	1	3162	639	23	1		1	CDK3	17	73999371	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	430081	73999371	7195839	437	1875											
BIRC5	332	broad.mit.edu	37	chr17	76212052	76212052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaatccttacagtgggcCgggcacggtggcttacgcct	6	10	12	13	3	0	0	0	0	0	0	1	0	1	0	4	4	2	2	4	4	3	3	rs115296168	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:76212052C>T	ENST00000301633.4	+	3	358	c.227C>T	c.(226-228)cCg>cTg	p.P76L	BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TACAGTGggccgggcacggtg	0.582													20	31					0	0	1	0	0	T	76212052	C	T	76212052	3	4	80	1	0	0	0	0	1	0	0	0	1436	652	23	1	237	1	BIRC5	17	76212052	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2212681	76212052	4983158	438	1876											
DNAH17	8632	broad.mit.edu	37	chr17	76421569	76421569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggactgcatgatggcCgtgaggaacgactgggggtt	8	8	17	8	2	0	2	0	2	0	0	0	5	0	4	2	5	2	2	2	5	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:76421569C>T	ENST00000389840.5	-	80	13192	c.13068G>A	c.(13066-13068)acG>acA	p.T4356T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T4328T					dynein, axonemal, heavy chain 17											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)			GCATGATGGCCGTGAGGAACG	0.597													14	28					0	0	1	0	0	T	76421569	C	T	76421569	2	4	80	1	0	0	0	0	0	0	0	1	4629	639	23	1		1	DNAH17	17	76421569	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	209517	76421569	4773641	439	1877											
CBX2	84733	broad.mit.edu	37	chr17	77757864	77757864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctccactcagcgcccccGttgcaggcctggcagctctg	4	7	10	20	2	2	0	1	0	1	0	3	0	3	0	6	2	3	4	6	2	0	1	rs61738483		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:77757864G>A	ENST00000310942.4	+	5	726	c.622G>A	c.(622-624)Gtt>Att	p.V208I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	208					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			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)			CAGCGCCCCCGTTGCAGGCCT	0.692													7	20					0	0	1	0	0	A	77757864	G	A	77757864	3	1	80	1	0	0	0	0	1	0	0	0	2736	1145	40	1	988	1	CBX2	17	77757864	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1336295	77757864	3437346	440	1878											
AZI1	22994	broad.mit.edu	37	chr17	79193765	79193765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcactgccaggacgcCgggacacaggcggagggaga	9	2	19	11	4	0	1	0	0	0	1	0	5	0	4	2	7	1	1	2	7	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79193765C>T	ENST00000269392.4	-	2	339	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	AZI1_ENST00000575907.1_Missense_Mutation_p.R31Q|AZI1_ENST00000450824.2_Missense_Mutation_p.R31Q|AZI1_ENST00000374782.3_Missense_Mutation_p.R31Q	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	31					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCAGGACGCCGGGACACAGG	0.662													30	34					0	0	1	0	0	T	79193765	C	T	79193765	3	4	80	1	0	0	0	0	1	0	0	0	1238	652	23	1	3250	1	AZI1	17	79193765	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1435901	79193765	2001445	441	1879											
NOTUM	147111	broad.mit.edu	37	chr17	79914795	79914795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccgtgggcgcgcacGtgatcgtgtcgacgcagtct	4	9	15	13	7	1	1	0	1	1	0	4	2	2	1	2	2	0	2	2	2	0	0	rs138384810	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79914795G>A	ENST00000409678.3	-	7	1234	c.851C>T	c.(850-852)aCg>aTg	p.T284M		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	284						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGGCGCGCACGTGATCGTGTC	0.672													3	22					0	0	1	0	0	A	79914795	G	A	79914795	3	1	80	1	0	0	0	0	1	0	0	0	10599	1145	40	1	659	1	NOTUM	17	79914795	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	721030	79914795	1280415	442	1880											
RAC3	5881	broad.mit.edu	37	chr17	79990655	79990655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggggctgtgggacacagCgggtcaggaggactacgatc	8	7	17	9	2	1	0	1	0	0	0	2	4	1	3	0	6	2	1	0	6	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79990655C>T	ENST00000306897.4	+	3	314	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	59					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	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)			TGGGACACAGCGGGTCAGGAG	0.617													12	45					0	0	1	0	0	T	79990655	C	T	79990655	3	4	80	1	0	0	0	0	1	0	0	0	13028	768	27	1	186	1	RAC3	17	79990655	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	75860	79990655	1204555	443	1881											
LRRC30	339291	broad.mit.edu	37	chr18	7231425	7231425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaactgacccggatcGtggtcctgaacttgtgcggg	7	9	16	9	3	0	2	0	2	0	0	2	4	1	4	2	5	3	0	2	5	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:7231425G>A	ENST00000383467.2	+	1	303	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	97										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						GACCCGGATCGTGGTCCTGAA	0.582													7	23					0	0	1	0	0	A	7231425	G	A	7231425	3	1	80	1	0	0	0	0	1	0	0	0	9030	1145	40	1	291	1	LRRC30	18	7231425	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		7231425	70845823	444	1882											
LAMA3	3909	broad.mit.edu	37	chr18	21484018	21484018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaaaagcacgcgcGgtccttacaagagctggcaa	13	4	14	10	3	0	2	0	0	0	2	1	3	1	3	1	4	3	4	1	4	5	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:21484018G>A	ENST00000313654.9	+	50	6681	c.6440G>A	c.(6439-6441)cGg>cAg	p.R2147Q	LAMA3_ENST00000587184.1_Missense_Mutation_p.R482Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2091Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R538Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2147	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)	AAGCACGCGCGGTCCTTACAA	0.512													7	77					0	0	1	0	0	A	21484018	G	A	21484018	3	1	80	1	0	0	0	0	1	0	0	0	8646	1116	39	1	6813	1	LAMA3	18	21484018	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14252593	21484018	56593230	445	1883											
ZNF521	25925	broad.mit.edu	37	chr18	22807526	22807526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgtcacagaattgacacGggtatggaagcccagggcca	12	7	12	10	1	1	2	1	1	0	1	1	3	1	3	2	3	1	1	2	3	3	3	rs149969134		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:22807526G>A	ENST00000361524.3	-	4	504	c.356C>T	c.(355-357)cCg>cTg	p.P119L	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.P119L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	119					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)					GAATTGACACGGGTATGGAAG	0.517			T	PAX5	ALL								15	71					0	0	1	0	0	A	22807526	G	A	22807526	3	1	80	1	0	0	0	0	1	0	0	0	18022	1116	39	1	3599	1	ZNF521	18	22807526	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1323508	22807526	55269722	446	1884											
DTNA	1837	broad.mit.edu	37	chr18	32395925	32395925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgtcagatcctccccCgcagtgtctggtctggttgc	4	13	11	13	1	3	1	1	0	2	1	5	1	5	1	3	2	1	3	3	2	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:32395925C>T	ENST00000283365.9	+	8	1007	c.656C>T	c.(655-657)cCg>cTg	p.P219L	DTNA_ENST00000399121.5_Missense_Mutation_p.P219L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.P219L|DTNA_ENST00000444659.1_Missense_Mutation_p.P219L|DTNA_ENST00000554864.3_Missense_Mutation_p.P219L|DTNA_ENST00000597599.1_Missense_Mutation_p.P219L|DTNA_ENST00000315456.6_Missense_Mutation_p.P219L|DTNA_ENST00000598334.1_Missense_Mutation_p.P219L|DTNA_ENST00000598774.1_Missense_Mutation_p.P219L|DTNA_ENST00000399113.3_Missense_Mutation_p.P219L|DTNA_ENST00000348997.5_Missense_Mutation_p.P219L|DTNA_ENST00000598142.1_Missense_Mutation_p.P219L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.P219L|DTNA_ENST00000269191.6_Missense_Mutation_p.P219L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	219	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	p.P219Q(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCCTCCCCCGCAGTGTCTG	0.393													76	108					0	0	1	0	0	T	32395925	C	T	32395925	3	4	80	1	0	0	0	0	1	0	0	0	4814	652	23	1	678	1	DTNA	18	32395925	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9588399	32395925	45681323	447	1885											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549170	44549170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgtctttctctgtgcGgtacggctgatcgggcgtcc	3	13	14	11	4	2	1	0	1	2	0	5	1	3	1	1	4	2	3	1	4	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:44549170G>A	ENST00000451265.1	-	1	1364	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TTCTCTGTGCGGTACGGCTGA	0.572													18	173					0	0	1	0	0	A	44549170	G	A	44549170	3	1	80	1	0	0	0	0	1	0	0	0	15744	1116	39	1	2158	1	TCEB3CL	18	44549170	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12153245	44549170	33528078	448	1886											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549182	44549182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgtgcggtacggctgatCgggcgtccacccttccagaa	6	9	12	14	4	1	2	0	1	1	1	4	2	3	2	3	3	2	2	3	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:44549182C>T	ENST00000451265.1	-	1	1352	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TACGGCTGATCGGGCGTCCAC	0.582													19	193					0	0	1	0	0	T	44549182	C	T	44549182	3	4	80	1	0	0	0	0	1	0	0	0	15744	884	31	1	2170	1	TCEB3CL	18	44549182	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12	44549182	33528066	449	1887											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242302	60242302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgtggggaacacgaaCgctaatgggacagtagtgcc	11	7	15	8	2	0	0	0	0	0	0	0	3	0	2	1	3	4	3	1	3	4	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:60242302C>T	ENST00000269499.5	+	13	3406	c.2988C>T	c.(2986-2988)aaC>aaT	p.N996N	ZCCHC2_ENST00000586834.1_Silent_p.N675N	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	996					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGAACACGAACGCTAATGGGA	0.597													4	15					0	0	1	0	0	T	60242302	C	T	60242302	2	4	80	1	0	0	0	0	0	0	0	1	17645	535	19	1		1	ZCCHC2	18	60242302	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15693120	60242302	17834946	450	1888											
CDH7	1005	broad.mit.edu	37	chr18	63511118	63511118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataaagatgccgaccctcGctttctgagcttgggtccgt	9	11	10	11	3	1	2	0	1	1	1	3	3	2	2	3	1	2	2	3	1	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:63511118G>A	ENST00000536984.2	+	7	1746	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CDH7_ENST00000323011.3_Missense_Mutation_p.R351H|CDH7_ENST00000397968.2_Missense_Mutation_p.R351H			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	351	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)				GCCGACCCTCGCTTTCTGAGC	0.443													22	55					0	0	1	0	0	A	63511118	G	A	63511118	3	1	80	1	0	0	0	0	1	0	0	0	3137	1087	38	1	1074	1	CDH7	18	63511118	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3268816	63511118	14566130	451	1889											
SALL3	27164	broad.mit.edu	37	chr18	76754682	76754682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcagccccgccctgtcCgagtcctcgtcctcgcaggc	3	6	13	19	5	0	0	0	0	0	0	5	1	3	0	6	2	1	2	6	2	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:76754682C>T	ENST00000536229.3	+	1	3001	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	SALL3_ENST00000537592.2_Silent_p.S897S|SALL3_ENST00000575389.2_Silent_p.S897S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	897					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)		CCGCCCTGTCCGAGTCCTCGT	0.731													15	7					0	0	1	0	0	T	76754682	C	T	76754682	2	4	80	1	0	0	0	0	0	0	0	1	13864	639	23	1		1	SALL3	18	76754682	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13243564	76754682	1322566	452	1890											
ABCA7	10347	broad.mit.edu	37	chr19	1054604	1054604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttgtgggcctggccctCgtgttcagcctcatcgtgcc	2	13	11	15	2	3	0	2	0	1	0	5	0	3	0	4	2	2	1	4	2	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1054604C>T	ENST00000263094.6	+	28	3993	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ABCA7_ENST00000435683.2_Silent_p.L1116L|ABCA7_ENST00000433129.1_Silent_p.L1254L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1254					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		GCCTGGCCCTCGTGTTCAGCC	0.632													3	20					0	0	1	0	0	T	1054604	C	T	1054604	2	4	80	1	0	0	0	0	0	0	0	1	37	871	31	1		1	ABCA7	19	1054604	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1054604	58074379	453	1891											
MUM1	84939	broad.mit.edu	37	chr19	1360196	1360196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacagacggtcgcttcgCgtggctctggacgttctgag	5	10	14	12	5	2	2	0	1	2	1	4	3	2	3	1	3	1	3	1	3	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1360196C>T	ENST00000311401.5	+	5	458	c.72C>T	c.(70-72)cgC>cgT	p.R24R	MUM1_ENST00000415183.3_Silent_p.R93R|MUM1_ENST00000591806.1_Silent_p.R93R|MUM1_ENST00000344663.3_Silent_p.R93R			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	92					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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;0.000172)|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)		GGTCGCTTCGCGTGGCTCTGG	0.587											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	35					0	0	1	0	0	T	1360196	C	T	1360196	2	4	80	1	0	0	0	0	0	0	0	1	10033	755	27	1		1	MUM1	19	1360196	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	305592	1360196	57768787	454	1892											
REXO1	57455	broad.mit.edu	37	chr19	1828397	1828397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggctggcgttggggcCgcggggcgccagggcggggg	2	4	26	9	5	0	0	0	0	0	0	0	0	0	0	2	10	0	2	2	10	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1828397C>T	ENST00000170168.4	-	2	485	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	131						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)		GCGTTggggccgcggggcgcc	0.731													3	13					0	0	1	0	0	T	1828397	C	T	1828397	3	4	80	1	0	0	0	0	1	0	0	0	13293	652	23	1	3334	1	REXO1	19	1828397	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	468201	1828397	57300586	455	1893											
AP3D1	8943	broad.mit.edu	37	chr19	2118737	2118737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgtagagcttgaccaCgttctgcacatacacggcct	9	8	12	12	3	1	2	0	1	1	1	1	3	1	3	2	3	3	4	2	3	2	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:2118737C>T	ENST00000355272.6	-	15	1782	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	AP3D1_ENST00000356926.4_Missense_Mutation_p.V435M|AP3D1_ENST00000345016.5_Missense_Mutation_p.V526M|AP3D1_ENST00000350812.6_Missense_Mutation_p.V357M	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	526					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi 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)		AGCTTGACCACGTTCTGCACA	0.652													8	29					0	0	1	0	0	T	2118737	C	T	2118737	3	4	80	1	0	0	0	0	1	0	0	0	742	536	19	1	2107	1	AP3D1	19	2118737	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	290340	2118737	57010246	456	1894											
SF3A2	8175	broad.mit.edu	37	chr19	2243426	2243426	+	Frame_Shift_Del	DEL	C	C	-																															aaggccatcaccatggacttCcagcatcgccccgggggcaa																										TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:2243426delC	ENST00000221494.5	+	2	427	c.9delC	c.(7-9)ttcfs	p.F3fs		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CCATGGACTTCCAGCATCGCC	0.662													9	16	---	---	---	---						-	2243426	C	-	2243426	7	5	80	1	0	1	0	1	0	0	0	0	14201	854	30	0	11	0	SF3A2	19	2243426	Frame_Shift_Del	DEL	C	TCGA-YZ-A985-01A-11D-A39W-08	124689	2243426	56885557	457	1895											
GNA11	2767	broad.mit.edu	37	chr19	3115012	3115012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacgtgctgcgggtcCgcgtgcccaccaccggcatc	6	5	14	16	5	0	0	0	0	0	0	2	1	1	1	4	3	4	3	4	3	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3115012C>T	ENST00000078429.4	+	4	789	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	183					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R183C(5)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTGCGGGTCCGCGTGCCCAC	0.672			Mis		uveal melanoma								34	44					0	0	1	0	0	T	3115012	C	T	3115012	3	4	80	1	0	0	0	0	1	0	0	0	6541	652	23	1	561	1	GNA11	19	3115012	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	871586	3115012	56013971	458	1896											
S1PR4	8698	broad.mit.edu	37	chr19	3179432	3179432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggtgatcttcgccggCgtcctggccaccatcatggg	4	10	13	14	3	2	1	1	1	1	0	4	1	3	1	5	4	1	0	5	4	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3179432C>T	ENST00000246115.3	+	1	697	c.642C>T	c.(640-642)ggC>ggT	p.G214G	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	214					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCTTCGCCGGCGTCCTGGCCA	0.682													42	115					0	0	1	0	0	T	3179432	C	T	3179432	2	4	80	1	0	0	0	0	0	0	0	1	13848	755	27	1		1	S1PR4	19	3179432	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	64420	3179432	55949551	459	1897											
MATK	4145	broad.mit.edu	37	chr19	3778526	3778526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttagggtacggagccCgtccatatgagaagacctcc	10	9	10	12	2	0	2	0	1	0	2	2	4	2	3	5	2	2	1	5	2	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3778526C>T	ENST00000310132.6	-	13	1663	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	MATK_ENST00000395045.2_Missense_Mutation_p.R423Q|MATK_ENST00000585778.1_Missense_Mutation_p.R421Q|MATK_ENST00000395040.2_Missense_Mutation_p.R381Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	422	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGAGCCCGTCCATATGA	0.647													6	10					0	0	1	0	0	T	3778526	C	T	3778526	3	4	80	1	0	0	0	0	1	0	0	0	9382	652	23	1	266	1	MATK	19	3778526	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	599094	3778526	55350457	460	1898											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054867	4054867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggaggtcggcgcacaCgtggctcacggcggggatct	6	6	17	12	5	2	0	1	0	1	0	4	2	3	2	1	7	0	2	1	7	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:4054867C>T	ENST00000322357.4	-	2	642	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.V122M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	122					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCGCACACGTGGCTCACG	0.677													4	6					0	0	1	0	0	T	4054867	C	T	4054867	3	4	80	1	0	0	0	0	1	0	0	0	17612	536	19	1	1398	1	ZBTB7A	19	4054867	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	276341	4054867	55074116	461	1899											
HSD11B1L	374875	broad.mit.edu	37	chr19	5687649	5687649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtgcgtcctgggcctccGagatcgcgcctccgccgccg	3	7	13	18	7	0	1	0	0	0	1	4	2	3	1	7	1	1	0	7	1	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:5687649G>A	ENST00000581521.1	+	9	1113	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	HSD11B1L_ENST00000339423.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.R132Q|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.R213Q|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000423665.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.R126Q			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	213						extracellular region	binding|oxidoreductase activity										CTGGGCCTCCGAGATCGCGCC	0.721													3	6					0	0	1	0	0	A	5687649	G	A	5687649	3	1	80	1	0	0	0	0	1	0	0	0	7417	1058	37	1	660	1	HSD11B1L	19	5687649	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1632782	5687649	53441334	462	1900											
VAV1	7409	broad.mit.edu	37	chr19	6836478	6836478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttcaggaatactacGggcttcctccaccccctgga	8	10	10	13	1	1	0	1	0	0	0	3	2	3	2	4	4	2	2	4	4	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:6836478G>A	ENST00000304076.2	+	20	1907	c.1813G>A	c.(1813-1815)Ggg>Agg	p.G605R	VAV1_ENST00000596764.1_Missense_Mutation_p.G573R|VAV1_ENST00000599806.1_Missense_Mutation_p.G550R|VAV1_ENST00000602142.1_Missense_Mutation_p.G605R|VAV1_ENST00000539284.1_Missense_Mutation_p.G508R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	605					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAATACTACGGGCTTCCTCC	0.557													3	17					0	0	1	0	0	A	6836478	G	A	6836478	3	1	80	1	0	0	0	0	1	0	0	0	17191	1116	39	1	1891	1	VAV1	19	6836478	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1148829	6836478	52292505	463	1901											
MYO1F	4542	broad.mit.edu	37	chr19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgggctccatgttgaccGcccgaagcaggtgctggacg	6	7	16	12	4	0	1	0	1	0	0	2	3	1	2	3	4	2	4	3	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637													6	33					0	0	1	0	0	A	8601203	G	A	8601203	3	1	80	1	0	0	0	0	1	0	0	0	10121	1087	38	1	1360	1	MYO1F	19	8601203	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1764725	8601203	50527780	464	1902											
MUC16	94025	broad.mit.edu	37	chr19	9091523	9091523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgggctggttctttgctCggagtgtgtcattcctctag	4	15	13	9	2	3	0	1	0	2	0	5	2	4	1	1	3	1	3	1	3	1	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:9091523C>T	ENST00000397910.4	-	1	495	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	98	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						GTTCTTTGCTCGGAGTGTGTC	0.542													4	65					0	0	1	0	0	T	9091523	C	T	9091523	3	4	80	1	0	0	0	0	1	0	0	0	10021	893	31	1	43567	1	MUC16	19	9091523	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	490320	9091523	50037460	465	1903											
KRI1	65095	broad.mit.edu	37	chr19	10671902	10671902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccgccctccccagcGccgtcctcgtcctcactgtc	3	8	9	21	4	1	0	1	0	0	0	6	1	4	1	7	1	2	0	7	1	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:10671902G>A	ENST00000312962.6	-	7	565	c.546C>T	c.(544-546)ggC>ggT	p.G182G	KRI1_ENST00000361821.5_Silent_p.G178G|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	182	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTCCCCAGCGCCGTCCTCGT	0.642													3	37					0	0	1	0	0	A	10671902	G	A	10671902	2	1	80	1	0	0	0	0	0	0	0	1	8487	1074	38	1		1	KRI1	19	10671902	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1580379	10671902	48457081	466	1904											
SMARCA4	6597	broad.mit.edu	37	chr19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgccgcctgctgctgaCgggcacaccgctgcagaaca	8	4	11	18	4	0	2	0	1	0	1	0	2	0	2	5	1	4	5	5	1	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:11132513C>T	ENST00000358026.2	+	19	3013	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.T910M(6)|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)				CTGCTGCTGACGGGCACACCG	0.592			"F, N, Mis"		NSCLC								14	5					0	0	1	0	0	T	11132513	C	T	11132513	3	4	80	1	0	0	0	0	1	0	0	0	14824	536	19	1	2799	1	SMARCA4	19	11132513	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	460611	11132513	47996470	467	1905											
DHPS	1725	broad.mit.edu	37	chr19	12790677	12790677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcgcccaagtatgtgggCgccaggcacttgatgaggtc	9	8	13	11	2	0	2	0	2	0	0	2	2	0	2	2	3	1	2	2	3	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12790677C>T	ENST00000210060.7	-	3	567	c.432G>A	c.(430-432)gcG>gcA	p.A144A	DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.A144A|DHPS_ENST00000594424.1_Silent_p.A102A	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	144					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	AGTATGTGGGCGCCAGGCACT	0.597													4	33					0	0	1	0	0	T	12790677	C	T	12790677	2	4	80	1	0	0	0	0	0	0	0	1	4513	755	27	1		1	DHPS	19	12790677	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1658164	12790677	46338306	468	1906											
RNASEH2A	10535	broad.mit.edu	37	chr19	12918311	12918311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattggaccagggcgtgaaCgtcacccaggtgagttaact	10	8	13	10	2	1	2	1	2	0	0	1	3	1	3	2	3	2	2	2	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12918311C>T	ENST00000221486.4	+	4	496	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	134					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						AGGGCGTGAACGTCACCCAGG	0.498													29	22					0	0	1	0	0	T	12918311	C	T	12918311	2	4	80	1	0	0	0	0	0	0	0	1	13464	535	19	1		1	RNASEH2A	19	12918311	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	127634	12918311	46210672	469	1907											
CASP14	23581	broad.mit.edu	37	chr19	15166256	15166256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggatacatcgcctaccGacatgatcagaaaggctcat	13	7	8	13	2	2	2	2	1	0	1	3	4	2	3	3	2	2	1	3	2	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15166256G>A	ENST00000427043.3	+	6	844	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	CASP14_ENST00000221740.1_Missense_Mutation_p.R179Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATCGCCTACCGACATGATCAG	0.532													9	71					0	0	1	0	0	A	15166256	G	A	15166256	3	1	80	1	0	0	0	0	1	0	0	0	2688	1058	37	1	554	1	CASP14	19	15166256	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2247945	15166256	43962727	470	1908											
BRD4	23476	broad.mit.edu	37	chr19	15364970	15364970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtcacctaacctgtttcGgagtcttcgctgtcagagga	9	11	10	11	2	3	1	2	0	1	1	5	3	3	3	2	2	1	2	2	2	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people								3	12					0	0	1	0	0	A	15364970	G	A	15364970	2	1	80	1	0	0	0	0	0	0	0	1	1506	1103	39	1		1	BRD4	19	15364970	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	198714	15364970	43764013	471	1909											
OR10H1	26539	broad.mit.edu	37	chr19	15918449	15918449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcgggctcatgagcacGttgtagcgcagggggtggca	6	6	17	12	4	1	1	1	1	0	0	1	1	1	1	2	4	2	6	2	4	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15918449G>A	ENST00000334920.2	-	1	487	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N133N(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCATGAGCACGTTGTAGCGCA	0.637													5	23					0	0	1	0	0	A	15918449	G	A	15918449	2	1	80	1	0	0	0	0	0	0	0	1	10953	1136	40	1		1	OR10H1	19	15918449	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	553479	15918449	43210534	472	1910											
NWD1	284434	broad.mit.edu	37	chr19	16860798	16860798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggactctgtccgccatgctCggagggttccctggctgcct	3	11	13	14	2	1	0	0	0	1	0	4	2	3	2	4	4	2	3	4	4	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:16860798C>T	ENST00000524140.2	+	6	1763	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	NWD1_ENST00000552788.1_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						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						CCGCCATGCTCGGAGGGTTCC	0.597													4	75					0	0	1	0	0	T	16860798	C	T	16860798	3	4	80	1	0	0	0	0	1	0	0	0	10829	875	31	1	946	1	NWD1	19	16860798	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	942349	16860798	42268185	473	1911											
ABHD8	79575	broad.mit.edu	37	chr19	17412110	17412110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagagccattctgccCgtgtaggaggtcggctcgag	6	8	13	14	3	1	1	0	0	1	1	4	3	2	2	4	3	2	2	4	3	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:17412110C>T	ENST00000247706.3	-	2	555	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	106							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCATTCTGCCCGTGTAGGAGG	0.721													17	21					0	0	1	0	0	T	17412110	C	T	17412110	3	4	80	1	0	0	0	0	1	0	0	0	87	652	23	1	1019	1	ABHD8	19	17412110	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	551312	17412110	41716873	474	1912											
KLHL26	55295	broad.mit.edu	37	chr19	18778890	18778890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagatcgacctgttccGcgcggccgtccgctggctgc	3	8	14	16	7	0	1	0	0	0	1	3	3	2	1	5	2	2	3	5	2	0	1	rs148044384		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:18778890G>A	ENST00000300976.4	+	3	773	c.683G>A	c.(682-684)cGc>cAc	p.R228H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	228	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GACCTGTTCCGCGCGGCCGTC	0.687													17	18					0	0	1	0	0	A	18778890	G	A	18778890	3	1	80	1	0	0	0	0	1	0	0	0	8424	1087	38	1	693	1	KLHL26	19	18778890	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1366780	18778890	40350093	475	1913											
LRFN3	79414	broad.mit.edu	37	chr19	36430628	36430628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgccacgtggctgccGgcgccttcgccgacctgcgg	3	6	13	19	7	0	0	0	0	0	0	2	1	1	0	7	3	2	1	7	3	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:36430628G>A	ENST00000588831.1	+	3	1355	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	LRFN3_ENST00000246529.3_Missense_Mutation_p.G101S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	101					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)			CGTGGCTGCCGGCGCCTTCGC	0.697													16	8					0	0	1	0	0	A	36430628	G	A	36430628	3	1	80	1	0	0	0	0	1	0	0	0	8984	1116	39	1	303	1	LRFN3	19	36430628	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	17651738	36430628	22698355	476	1914											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573659	38573659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggagcagcagcggaCgcagagtcggccccggcagt	9	3	15	14	4	0	1	0	0	0	1	2	3	1	3	3	4	3	4	3	4	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:38573659C>T	ENST00000222345.6	+	3	1963	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	485					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCAGCGGACGCAGAGTCGG	0.662													6	27					0	0	1	0	0	T	38573659	C	T	38573659	3	4	80	1	0	0	0	0	1	0	0	0	14386	536	19	1	1456	1	SIPA1L3	19	38573659	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2143031	38573659	20555324	477	1915											
KCNK6	9424	broad.mit.edu	37	chr19	38817413	38817413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggacccccggcgggCggcctgctggcacttggtgg	2	6	20	13	3	0	0	0	0	0	0	0	1	0	1	3	8	1	3	3	8	0	1	rs145525515	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:38817413C>T	ENST00000263372.3	+	2	610	c.503C>T	c.(502-504)gCg>gTg	p.A168V		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	168						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.A168V(1)		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)	CCCCGGCGGGCGGCCTGCTGG	0.667													10	35					0	0	1	0	0	T	38817413	C	T	38817413	3	4	80	1	0	0	0	0	1	0	0	0	8114	768	27	1	509	1	KCNK6	19	38817413	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	243754	38817413	20311570	478	1916											
LRFN1	57622	broad.mit.edu	37	chr19	39805081	39805081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgccgtgtgatcagcGggggctcacacaggaactcc	7	6	13	15	3	2	1	2	1	0	0	3	2	3	2	4	3	3	1	4	3	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:39805081G>A	ENST00000248668.4	-	1	895	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	299	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTGATCAGCGGGGGCTCACA	0.706													7	4					0	0	1	0	0	A	39805081	G	A	39805081	3	1	80	1	0	0	0	0	1	0	0	0	8982	1116	39	1	1427	1	LRFN1	19	39805081	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	987668	39805081	19323902	479	1917											
ZNF546	339327	broad.mit.edu	37	chr19	40521032	40521032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaatgtgggaaagcctttCgatttcaaacagaacttact	14	12	8	7	1	1	2	1	1	0	1	2	4	1	3	1	1	4	0	1	1	5	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:40521032C>T	ENST00000347077.4	+	7	2071	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Nonsense_Mutation_p.R593*	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAAGCCTTTCGATTTCAAAC	0.358													8	15					0	0	1	0	0	T	40521032	C	T	40521032	4	4	80	1	0	0	0	0	0	1	0	0	18035	876	31	1	1873	1	ZNF546	19	40521032	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	715951	40521032	18607951	480	1918											
SPTBN4	57731	broad.mit.edu	37	chr19	41008365	41008365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactgcgtgcctgcaaccGtcgcctctttgtgcctcggg	5	10	11	15	4	1	0	0	0	1	0	3	0	1	0	4	1	6	1	4	1	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41008365G>A	ENST00000352632.3	+	10	1240	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R385H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	385					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|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)			GCCTGCAACCGTCGCCTCTTT	0.602													8	49					0	0	1	0	0	A	41008365	G	A	41008365	3	1	80	1	0	0	0	0	1	0	0	0	15177	1145	40	1	1188	1	SPTBN4	19	41008365	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	487333	41008365	18120618	481	1919											
LTBP4	8425	broad.mit.edu	37	chr19	41129854	41129854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctagacaatgacgagtgCgccgatgaggaaccggcctg	10	6	13	12	4	0	3	0	2	0	1	1	6	1	4	4	2	2	0	4	2	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41129854C>T	ENST00000308370.7	+	30	3897	c.3897C>T	c.(3895-3897)tgC>tgT	p.C1299C	LTBP4_ENST00000396819.3_Silent_p.C1232C|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.C667C|LTBP4_ENST00000204005.9_Silent_p.C1262C|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1300	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGACGAGTGCGCCGATGAGG	0.582													6	16					0	0	1	0	0	T	41129854	C	T	41129854	2	4	80	1	0	0	0	0	0	0	0	1	9121	776	27	1		1	LTBP4	19	41129854	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	121489	41129854	17999129	482	1920											
CYP2A13	1553	broad.mit.edu	37	chr19	41594843	41594843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctccaacagatcagtgagCgctatggccctgtgttcacc	8	9	10	14	1	2	2	2	1	0	1	3	2	3	2	4	1	2	2	4	1	2	2	rs72547586	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41594843C>T	ENST00000330436.3	+	2	190	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	64					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)	GATCAGTGAGCGCTATGGCCC	0.612													6	46					0	0	1	0	0	T	41594843	C	T	41594843	3	4	80	1	0	0	0	0	1	0	0	0	4184	768	27	1	196	1	CYP2A13	19	41594843	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	464989	41594843	17534140	483	1921											
TOMM40	10452	broad.mit.edu	37	chr19	45404590	45404590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtctcggttcccctacGcgggaaacaggcaggaggtg	10	6	15	10	3	1	0	0	0	1	0	3	2	2	2	2	6	2	2	2	6	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:45404590G>A	ENST00000592434.1	+	9	1062	c.969G>A	c.(967-969)acG>acA	p.T323T	TOMM40_ENST00000426677.2_Intron|TOMM40_ENST00000252487.5_Intron|TOMM40_ENST00000405636.2_Intron			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	0					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)		GTTCCCCTACGCGGGAAACAG	0.602													4	8					0	0	1	0	0	A	45404590	G	A	45404590	2	1	80	1	0	0	0	0	0	0	0	1	16418	1102	38	1		1	TOMM40	19	45404590	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3809747	45404590	13724393	484	1922											
GPR4	2828	broad.mit.edu	37	chr19	46095082	46095082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggaaagaggtggtccaCgcgcgagtccacgtggcagc	8	5	17	11	5	0	1	0	0	0	1	2	3	2	2	2	5	1	1	2	5	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46095082C>T	ENST00000323040.4	-	2	987	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	15						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)		AGGTGGTCCACGCGCGAGTCC	0.677													5	19					0	0	1	0	0	T	46095082	C	T	46095082	3	4	80	1	0	0	0	0	1	0	0	0	6734	536	19	1	1049	1	GPR4	19	46095082	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	690492	46095082	13033901	485	1923											
FBXO46	23403	broad.mit.edu	37	chr19	46216077	46216077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacggcctcggctacaCggctgcagtccccaccaccg	6	4	12	19	4	0	0	0	0	0	0	2	0	1	0	6	4	2	3	6	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46216077C>T	ENST00000317683.3	-	2	810	c.677G>A	c.(676-678)cGt>cAt	p.R226H		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	226							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTCGGCTACACGGCTGCAGTC	0.701													5	30					0	0	1	0	0	T	46216077	C	T	46216077	3	4	80	1	0	0	0	0	1	0	0	0	5788	536	19	1	1138	1	FBXO46	19	46216077	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	120995	46216077	12912906	486	1924											
CCDC8	83987	broad.mit.edu	37	chr19	46915352	46915352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctggtgccctctggcGccgatgatacccctgcgctc	3	8	13	17	4	1	1	0	1	1	0	2	2	1	1	5	3	3	2	5	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46915352G>A	ENST00000307522.3	-	1	1489	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	239						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCCTCTGGCGCCGATGATAC	0.706													18	29					0	0	1	0	0	A	46915352	G	A	46915352	3	1	80	1	0	0	0	0	1	0	0	0	2873	1087	38	1	904	1	CCDC8	19	46915352	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	699275	46915352	12213631	487	1925											
GLTSCR1	29998	broad.mit.edu	37	chr19	48204593	48204593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgattctgcagacgagtacGtgtcttcctcccgctcgctc	5	11	9	16	5	2	1	0	0	2	1	6	3	4	1	3	0	2	4	3	0	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:48204593G>A	ENST00000396720.3	+	15	3798	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1202							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGACGAGTACGTGTCTTCCTC	0.662													4	4					0	0	1	0	0	A	48204593	G	A	48204593	3	1	80	1	0	0	0	0	1	0	0	0	6516	1145	40	1	3654	1	GLTSCR1	19	48204593	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1289241	48204593	10924390	488	1926											
MED25	81857	broad.mit.edu	37	chr19	50334046	50334046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccaggaccccctggcGcccccaagccaccacctgct	7	4	7	23	1	0	0	0	0	0	0	0	1	0	1	9	2	3	1	9	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50334046G>A	ENST00000312865.6	+	9	1056	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	MED25_ENST00000538643.1_Missense_Mutation_p.A122T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	335	Pro-rich.		A -> V (in CMT2B2).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCCCTGGCGCCCCCAAGCC	0.706													6	22					0	0	1	0	0	A	50334046	G	A	50334046	3	1	80	1	0	0	0	0	1	0	0	0	9493	1087	38	1	1037	1	MED25	19	50334046	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2129453	50334046	8794937	489	1927											
POLD1	5424	broad.mit.edu	37	chr19	50917082	50917082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccctggggcgggaggcCgcggactgggtgtcaggtca	5	6	20	10	3	2	0	2	0	0	0	2	2	2	2	2	8	0	0	2	8	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50917082C>T	ENST00000440232.2	+	19	2387	c.2334C>T	c.(2332-2334)gcC>gcT	p.A778A	POLD1_ENST00000595904.1_Silent_p.A804A|POLD1_ENST00000599857.1_Silent_p.A778A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	778					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGGGAGGCCGCGGACTGGG	0.657								DNA polymerases (catalytic subunits)					9	30					0	0	1	0	0	T	50917082	C	T	50917082	2	4	80	1	0	0	0	0	0	0	0	1	12238	639	23	1		1	POLD1	19	50917082	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	583036	50917082	8211901	490	1928											
MYBPC2	4606	broad.mit.edu	37	chr19	50958853	50958853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcctccgaacaggatcGgggcaggtggcatcgatggg	8	5	19	9	3	0	0	0	0	0	0	3	4	1	2	2	8	1	2	2	8	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50958853G>A	ENST00000357701.5	+	20	2341	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	764	Fibronectin type-III 2.				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)		GAACAGGATCGGGGCAGGTGG	0.612													17	45					0	0	1	0	0	A	50958853	G	A	50958853	3	1	80	1	0	0	0	0	1	0	0	0	10060	1116	39	1	2368	1	MYBPC2	19	50958853	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	41771	50958853	8170130	491	1929											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284980	55284980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacttctccatcagtcGcatgacgcaagacctggcag	10	7	10	14	2	2	2	1	1	1	1	4	2	2	2	3	2	1	3	3	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:55284980G>A	ENST00000336077.6	+	3	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.R89H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													31	123					0	0	1	0	0	A	55284980	G	A	55284980	3	1	80	1	0	0	0	0	1	0	0	0	8359	1087	38	1	276	1	KIR2DL1	19	55284980	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4326127	55284980	3844003	492	1930											
KIR2DL4	0	broad.mit.edu	37	chr19	55316274	55316274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagcccttctgctctGcctggcccagcgctgtggtg	5	9	13	14	1	2	0	0	0	2	0	2	1	2	1	3	3	4	2	3	3	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:55316274G>A	ENST00000396284.2	+	3	97	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A35T|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A35T|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A35T|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTCTGCTCTGCCTGGCCCAG	0.567													6	26					0	0	1	0	0	A	55316274	G	A	55316274	3	1	80	1	0	0	0	0	1	0	0	0	8361	1319	46	2	113	2	KIR2DL4	19	55316274	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	31294	55316274	3812709	493	1931											
NLRP4	147945	broad.mit.edu	37	chr19	56369494	56369494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgaacgaacccgattcGgatctgtgtggtgacttgat	8	12	13	8	3	1	3	0	3	1	0	2	6	1	4	1	3	2	1	1	3	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:56369494G>A	ENST00000301295.6	+	3	1157	c.735G>A	c.(733-735)tcG>tcA	p.S245S	NLRP4_ENST00000587891.1_Silent_p.S170S|NLRP4_ENST00000346986.5_Silent_p.S245S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	245	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)		AACCCGATTCGGATCTGTGTG	0.562													26	30					0	0	1	0	0	A	56369494	G	A	56369494	2	1	80	1	0	0	0	0	0	0	0	1	10526	1103	39	1		1	NLRP4	19	56369494	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1053220	56369494	2759489	494	1932											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagcagttcctgggcGcgctgcccagcaagatgcgg	6	7	16	12	3	0	1	0	0	0	1	1	2	1	2	2	3	5	5	2	3	1	1	rs148253808		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													8	10					0	0	1	0	0	A	58549469	G	A	58549469	3	1	80	1	0	0	0	0	1	0	0	0	18268	1087	38	1	267	1	ZSCAN1	19	58549469	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2179975	58549469	579514	495	1933											
ZNF324	25799	broad.mit.edu	37	chr19	58983109	58983109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctctttaagcaccagcGcgtgcacacaggcgagaagc	10	6	11	14	4	1	1	0	0	1	1	2	2	1	1	1	1	4	3	1	1	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:58983109G>A	ENST00000536459.2	+	4	1959	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R417H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R194H			O75467	Z324A_HUMAN	zinc finger protein 324	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		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)		AAGCACCAGCGCGTGCACACA	0.662													24	28					0	0	1	0	0	A	58983109	G	A	58983109	3	1	80	1	0	0	0	0	1	0	0	0	17901	1087	38	1	1260	1	ZNF324	19	58983109	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	433640	58983109	145874	496	1934											
ANGPT4	51378	broad.mit.edu	37	chr20	860425	860425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccgctgaaaattcaCggtgccattctcacggcgct	8	10	9	14	4	2	1	2	1	1	0	4	1	3	1	3	2	1	3	3	2	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	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						TGAAAATTCACGGTGCCATTC	0.617													7	27					0	0	1	0	0	T	860425	C	T	860425	3	4	80	1	0	0	0	0	1	0	0	0	608	536	19	1	509	1	ANGPT4	20	860425	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		860425	62165095	497	1935											
PSMF1	9491	broad.mit.edu	37	chr20	1143802	1143802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcccgtttgttgtcGggggagaagacttagaccct	6	10	14	11	2	0	3	0	0	0	3	1	4	0	3	3	3	0	2	3	3	2	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:1143802G>A	ENST00000335877.6	+	5	756	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	PSMF1_ENST00000333082.3_Missense_Mutation_p.G194R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G132R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.G106R|PSMF1_ENST00000246015.4_Missense_Mutation_p.G194R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	194	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTTTGTTGTCGGGGGAGAAGA	0.507													13	11					0	0	1	0	0	A	1143802	G	A	1143802	3	1	80	1	0	0	0	0	1	0	0	0	12759	1116	39	1	598	1	PSMF1	20	1143802	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	283377	1143802	61881718	498	1936											
LRRN4	164312	broad.mit.edu	37	chr20	6021826	6021826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaacaggccgctggcggCgcacagcccagagagcagga	11	1	16	13	3	0	1	0	0	0	1	0	4	0	2	2	4	4	4	2	4	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:6021826C>T	ENST00000378858.4	-	5	2289	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	689						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCTGGCGGCGCACAGCCCA	0.716													4	0					0	0	1	0	0	T	6021826	C	T	6021826	3	4	80	1	0	0	0	0	1	0	0	0	9082	768	27	1	161	1	LRRN4	20	6021826	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4878024	6021826	57003694	499	1937											
PLCB4	5332	broad.mit.edu	37	chr20	9389753	9389753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccaagggaggccgagtcGattccagtaattacatgcct	11	8	10	12	2	0	0	0	0	0	0	2	3	1	1	5	2	2	1	5	2	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:9389753G>A	ENST00000378501.2	+	20	1903	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	PLCB4_ENST00000378493.1_Missense_Mutation_p.D630N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box.				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						AGGCCGAGTCGATTCCAGTAA	0.448													12	54					0	0	1	0	0	A	9389753	G	A	9389753	3	1	80	1	0	0	0	0	1	0	0	0	12078	1058	37	1	2006	1	PLCB4	20	9389753	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3367927	9389753	53635767	500	1938											
C20orf26	26074	broad.mit.edu	37	chr20	20177279	20177279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcagtcaccaccagcgCgaagaacacgggcacatgca	13	5	9	14	3	2	1	2	0	0	1	2	2	2	1	2	1	4	2	2	1	3	2	rs78795550	by1000genomes	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:20177279C>T	ENST00000245957.5	+	16	1732	c.1656C>T	c.(1654-1656)cgC>cgT	p.R552R	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	552										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCACCAGCGCGAAGAACACG	0.463													14	30					0	0	1	0	0	T	20177279	C	T	20177279	2	4	80	1	0	0	0	0	0	0	0	1	2120	755	27	1		1	C20orf26	20	20177279	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10787526	20177279	42848241	501	1939											
CD93	22918	broad.mit.edu	37	chr20	23065702	23065702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccccctctccaggaccGcccggctcatagccaaccca	8	4	8	21	2	2	0	1	0	1	0	3	1	2	1	7	3	2	1	7	3	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:23065702G>A	ENST00000246006.4	-	1	1275	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	376	EGF-like 3; calcium-binding (Potential).				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)					CTCCAGGACCGCCCGGCTCAT	0.632													3	26					0	0	1	0	0	A	23065702	G	A	23065702	2	1	80	1	0	0	0	0	0	0	0	1	3069	1074	38	1		1	CD93	20	23065702	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2888423	23065702	39959818	502	1940											
FOXS1	2307	broad.mit.edu	37	chr20	30433147	30433147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtgacaggttgtggcGgatgctgttctgccagccgg	5	11	17	8	2	1	2	0	2	1	0	1	3	1	3	2	4	3	4	2	4	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:30433147G>A	ENST00000375978.3	-	1	273	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	67					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AGGTTGTGGCGGATGCTGTTC	0.642													3	35					0	0	1	0	0	A	30433147	G	A	30433147	3	1	80	1	0	0	0	0	1	0	0	0	6069	1116	39	1	797	1	FOXS1	20	30433147	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7367445	30433147	32592373	503	1941											
SUN5	140732	broad.mit.edu	37	chr20	31571673	31571673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccatgcactcgcacgCggtacaggcaagtgaagcct	11	5	12	13	3	0	2	0	1	0	1	1	2	0	2	2	2	4	4	2	2	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:31571673C>T	ENST00000356173.3	-	13	1159	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	SUN5_ENST00000375523.3_Missense_Mutation_p.R331H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	356	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACTCGCACGCGGTACAGGCA	0.557													11	64					0	0	1	0	0	T	31571673	C	T	31571673	3	4	80	1	0	0	0	0	1	0	0	0	15450	768	27	1	76	1	SUN5	20	31571673	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1138526	31571673	31453847	504	1942											
PIGU	128869	broad.mit.edu	37	chr20	33169374	33169374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagagatggttccacacGgggaagaaggccatgtagag	12	7	15	7	1	0	3	0	0	0	3	1	5	1	4	2	4	0	3	2	4	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:33169374G>A	ENST00000374820.2	-	9	989	c.969C>T	c.(967-969)ccC>ccT	p.P323P	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.P343P			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	343					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGTTCCACACGGGGAAGAAGG	0.532													5	10					0	0	1	0	0	A	33169374	G	A	33169374	2	1	80	1	0	0	0	0	0	0	0	1	11948	1103	39	1		1	PIGU	20	33169374	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1597701	33169374	29856146	505	1943											
NCOA6	23054	broad.mit.edu	37	chr20	33328468	33328468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataactgctctgttcccatGagccccggagctgtggtgtc	6	11	12	12	1	1	1	0	1	1	0	3	3	2	2	3	2	4	3	3	2	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:33328468G>A	ENST00000374796.2	-	12	8162	c.5592C>T	c.(5590-5592)ctC>ctT	p.L1864L	NCOA6_ENST00000359003.2_Silent_p.L1864L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1864	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|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			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						CTGTTCCCATGAGCCCCGGAG	0.542													35	33					0	0	1	0	0	A	33328468	G	A	33328468	2	1	80	1	0	0	0	0	0	0	0	1	10280	1277	45	3		3	NCOA6	20	33328468	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	159094	33328468	29697052	506	1944											
RBL1	5933	broad.mit.edu	37	chr20	35635830	35635830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccatatggtcctgattcGccaagtcgtatttcagtgca	10	13	8	10	2	1	1	1	1	0	0	4	1	2	1	3	1	2	2	3	1	4	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:35635830G>A	ENST00000373664.3	-	20	2921	c.2855C>T	c.(2854-2856)gCg>gTg	p.A952V	RBL1_ENST00000344359.3_Missense_Mutation_p.A952V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	952					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTCCTGATTCGCCAAGTCGTA	0.323													7	23					0	0	1	0	0	A	35635830	G	A	35635830	3	1	80	1	0	0	0	0	1	0	0	0	13161	1087	38	1	372	1	RBL1	20	35635830	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2307362	35635830	27389690	507	1945											
ZHX3	23051	broad.mit.edu	37	chr20	39831218	39831218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggacaaagagctgcCgcagcaagtgccgctgctgg	8	7	15	11	2	1	1	0	0	1	1	1	2	1	2	2	2	5	5	2	2	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:39831218C>T	ENST00000309060.3	-	4	2754	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000560361.1_Missense_Mutation_p.R780Q			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	780					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)				AAAGAGCTGCCGCAGCAAGTG	0.587													7	75					0	0	1	0	0	T	39831218	C	T	39831218	3	4	80	1	0	0	0	0	1	0	0	0	17735	652	23	1	539	1	ZHX3	20	39831218	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4195388	39831218	23194302	508	1946											
JPH2	57158	broad.mit.edu	37	chr20	42788529	42788529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcacgccgaagcccgagcGtttgtcgttcttccactcgc	5	10	10	16	6	2	0	1	0	1	0	5	2	3	0	3	0	2	3	3	0	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:42788529G>A	ENST00000372980.3	-	2	1770	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	300					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAGCCCGAGCGTTTGTCGTTC	0.687													3	12					0	0	1	0	0	A	42788529	G	A	42788529	3	1	80	1	0	0	0	0	1	0	0	0	8005	1145	40	1	1208	1	JPH2	20	42788529	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2957311	42788529	20236991	509	1947											
GDAP1L1	78997	broad.mit.edu	37	chr20	42885898	42885898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgcggctcaacctgggcGaggaggtgcccgtcatcatc	7	8	13	13	3	4	0	4	0	0	0	5	2	4	1	2	4	3	1	2	4	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:42885898G>A	ENST00000342560.5	+	2	374	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	96	GST N-terminal.							p.E96K(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACCTGGGCGAGGAGGTGCC	0.612													6	13					0	0	1	0	0	A	42885898	G	A	42885898	3	1	80	1	0	0	0	0	1	0	0	0	6349	1059	37	1	292	1	GDAP1L1	20	42885898	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	97369	42885898	20139622	510	1948											
MATN4	8785	broad.mit.edu	37	chr20	43936911	43936911	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacggcggcgtggcagcGtgccctaggtggggactgcc	5	6	19	11	4	0	0	0	0	0	0	0	1	0	1	2	7	4	2	2	7	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:43936911G>A	ENST00000537548.1	-	0	114				MATN4_ENST00000360607.6_De_novo_Start_InFrame|RBPJL_ENST00000343694.3_Intron|MATN4_ENST00000372751.4_De_novo_Start_InFrame|MATN4_ENST00000342716.4_De_novo_Start_InFrame|RBPJL_ENST00000372741.3_Intron|MATN4_ENST00000353917.5_De_novo_Start_InFrame|RBPJL_ENST00000372743.1_Intron			O95460	MATN4_HUMAN	matrilin 4							extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCGTGGCAGCGTGCCCTAGGT	0.667													13	4					0	0	1	0	0	A	43936911	G	A	43936911	1	1	80	1	0	0	0	0	0	0	0	0	9386	1160	40	1		1	MATN4	20	43936911	Translation_Start_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1051013	43936911	19088609	511	1949											
ELMO2	63916	broad.mit.edu	37	chr20	45000478	45000478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaagtcatcctgactcAtcctctcagactggcgcagt	9	10	9	13	1	3	2	3	1	1	1	6	3	5	3	2	2	0	1	2	2	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:45000478A>G	ENST00000372176.1	-	17	1751	c.1283T>C	c.(1282-1284)aTg>aCg	p.M428T	ELMO2_ENST00000439931.2_Missense_Mutation_p.M528T|ELMO2_ENST00000454865.2_Missense_Mutation_p.M248T|ELMO2_ENST00000396391.1_Missense_Mutation_p.M516T|ELMO2_ENST00000352077.2_Missense_Mutation_p.M514T|ELMO2_ENST00000445496.2_Missense_Mutation_p.M333T|ELMO2_ENST00000290246.6_Missense_Mutation_p.M516T			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	516	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATCCTGACTCATCCTCTCAGA	0.547													4	54					0	0	1	0	0	G	45000478	A	G	45000478	3	3	80	1	0	0	0	0	1	0	0	0	5094	217	8	4	639	4	ELMO2	20	45000478	Missense_Mutation	SNP	A	TCGA-YZ-A985-01A-11D-A39W-08	1063567	45000478	18025042	512	1950											
DIDO1	11083	broad.mit.edu	37	chr20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggcttcatcacctgcGgggcctggccctggaagtga	5	7	15	14	2	2	1	2	1	0	0	2	2	2	2	4	6	1	1	4	6	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				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)					CATCACCTGCGGGGCCTGGCC	0.687													31	42					0	0	1	0	0	A	61511261	G	A	61511261	3	1	80	1	0	0	0	0	1	0	0	0	4550	1116	39	1	679	1	DIDO1	20	61511261	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16510783	61511261	1514259	513	1951											
RUNX1	861	broad.mit.edu	37	chr21	36171666	36171666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtccaggtgaaatgggcGttgctgggtgcacagaagga	10	7	16	8	2	0	2	0	1	0	1	1	3	1	3	1	4	2	3	1	4	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:36171666G>A	ENST00000344691.4	-	5	2395	c.818C>T	c.(817-819)aCg>aTg	p.T273M	RUNX1_ENST00000437180.1_Missense_Mutation_p.T300M|RUNX1_ENST00000399240.1_Missense_Mutation_p.T209M|RUNX1_ENST00000325074.5_Missense_Mutation_p.T288M|RUNX1_ENST00000300305.3_Missense_Mutation_p.T300M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	273	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T300fs*12(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGAAATGGGCGTTGCTGGGTG	0.522			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								15	62					0	0	1	0	0	A	36171666	G	A	36171666	3	1	80	1	0	0	0	0	1	0	0	0	13798	1145	40	1	551	1	RUNX1	21	36171666	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		36171666	11958229	514	1952											
HLCS	3141	broad.mit.edu	37	chr21	38137355	38137355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcttccacgacagccacGgacatcagatgctggacaaa	13	6	9	13	2	1	1	1	0	0	1	2	4	2	3	2	2	3	2	2	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:38137355G>A	ENST00000399120.1	-	9	2868	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	HLCS_ENST00000336648.4_Silent_p.S546S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	546					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)	CGACAGCCACGGACATCAGAT	0.532													16	22					0	0	1	0	0	A	38137355	G	A	38137355	2	1	80	1	0	0	0	0	0	0	0	1	7254	1103	39	1		1	HLCS	21	38137355	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1965689	38137355	9992540	515	1953											
TRPM2	7226	broad.mit.edu	37	chr21	45784126	45784126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaccgatgcctttggCgacatcgtcttcacgggcct	7	10	10	14	4	2	0	1	0	1	0	3	2	2	0	4	2	3	0	4	2	1	2	rs143653746		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:45784126C>T	ENST00000397928.1	+	3	829	c.384C>T	c.(382-384)ggC>ggT	p.G128G	TRPM2_ENST00000300482.5_Silent_p.G128G|TRPM2_ENST00000300481.9_Silent_p.G128G|TRPM2_ENST00000397932.2_Silent_p.G128G	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	128						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						ATGCCTTTGGCGACATCGTCT	0.562													11	21					0	0	1	0	0	T	45784126	C	T	45784126	2	4	80	1	0	0	0	0	0	0	0	1	16647	755	27	1		1	TRPM2	21	45784126	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7646771	45784126	2345769	516	1954											
SLC19A1	6573	broad.mit.edu	37	chr21	46951857	46951857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaataggcgatgcgcGcggccatggtgacgctgtag	9	6	18	8	5	0	1	0	1	0	0	0	4	0	3	1	5	1	2	1	5	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:46951857G>A	ENST00000311124.4	-	3	547	c.395C>T	c.(394-396)gCg>gTg	p.A132V	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A92V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A132V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A132V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	132					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGCGATGCGCGCGGCCATGGT	0.667													5	2					0	0	1	0	0	A	46951857	G	A	46951857	3	1	80	1	0	0	0	0	1	0	0	0	14483	1087	38	1	1396	1	SLC19A1	21	46951857	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1167731	46951857	1178038	517	1955											
SLC25A18	83733	broad.mit.edu	37	chr22	18072420	18072420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgtacagtgggatcacCgactgtgccaggtgagagcc	10	7	14	10	1	1	1	1	1	0	1	1	5	1	2	3	2	3	1	3	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:18072420C>T	ENST00000327451.6	+	10	1333	c.795C>T	c.(793-795)acC>acT	p.T265T	SLC25A18_ENST00000399813.1_Silent_p.T265T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18							integral to membrane|mitochondrial inner membrane	binding|symporter activity	p.T265T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GTGGGATCACCGACTGTGCCA	0.488													7	14					0	0	1	0	0	T	18072420	C	T	18072420	2	4	80	1	0	0	0	0	0	0	0	1	14535	639	23	1		1	SLC25A18	22	18072420	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		18072420	33232146	518	1956											
YPEL1	29799	broad.mit.edu	37	chr22	22057670	22057670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcacgtatttccaccCgagcgtggtcttgcagttct	6	12	10	13	3	3	0	1	0	2	0	4	1	4	0	2	2	2	4	2	2	1	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:22057670C>T	ENST00000339468.3	-	4	642	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	87						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					TATTTCCACCCGAGCGTGGTC	0.622													27	21					0	0	1	0	0	T	22057670	C	T	22057670	3	4	80	1	0	0	0	0	1	0	0	0	17549	652	23	1	108	1	YPEL1	22	22057670	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3985250	22057670	29246896	519	1957											
ADRBK2	157	broad.mit.edu	37	chr22	26086189	26086189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttggatgaacatggacacGcaagaatatcagatcttggt	13	11	10	7	1	3	3	1	1	2	2	3	5	3	5	0	3	1	1	0	3	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:26086189G>A	ENST00000324198.6	+	12	1183	c.991G>A	c.(991-993)Gca>Aca	p.A331T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.A331T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACATGGACACGCAAGAATATC	0.413													6	76					0	0	1	0	0	A	26086189	G	A	26086189	3	1	80	1	0	0	0	0	1	0	0	0	343	1087	38	1	1037	1	ADRBK2	22	26086189	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4028519	26086189	25218377	520	1958											
ZMAT5	55954	broad.mit.edu	37	chr22	30134421	30134421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagtagccactccctggctCgcctctcctctgtggggaca	5	10	10	16	1	2	0	0	0	2	0	5	1	3	1	4	3	1	2	4	3	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:30134421C>T	ENST00000397781.3	-	6	531	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ZMAT5_ENST00000344318.3_Missense_Mutation_p.R94Q	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	94					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTCCCTGGCTCGCCTCTCCTC	0.612													5	17					0	0	1	0	0	T	30134421	C	T	30134421	3	4	80	1	0	0	0	0	1	0	0	0	17753	884	31	1	239	1	ZMAT5	22	30134421	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4048232	30134421	21170145	521	1959											
DEPDC5	9681	broad.mit.edu	37	chr22	32239098	32239098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccttgtgtcccgaaacCgccctgaggaggaggaccag	9	6	14	12	2	0	1	0	1	0	0	1	5	1	4	5	4	1	0	5	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:32239098C>T	ENST00000400246.1	+	28	2675	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R836C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845C			O75140	DEPD5_HUMAN	DEP domain containing 5	836					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						GTCCCGAAACCGCCCTGAGGA	0.443													6	39					0	0	1	0	0	T	32239098	C	T	32239098	3	4	80	1	0	0	0	0	1	0	0	0	4470	652	23	1	2630	1	DEPDC5	22	32239098	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2104677	32239098	19065468	522	1960											
MYH9	4627	broad.mit.edu	37	chr22	36684926	36684926	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagctcttccagctgCgtcttcatctcctccacctg	4	13	5	19	1	4	0	1	0	3	0	9	0	8	0	6	0	3	2	6	0	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:36684926C>T	ENST00000216181.5	-	33	4847	c.4617G>A	c.(4615-4617)acG>acA	p.T1539T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1539					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTTCCAGCTGCGTCTTCATCT	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				4	82					0	0	1	0	0	T	36684926	C	T	36684926	2	4	80	1	0	0	0	0	0	0	0	1	10090	755	27	1		1	MYH9	22	36684926	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4445828	36684926	14619640	523	1961											
TXN2	25828	broad.mit.edu	37	chr22	36876736	36876736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtggtgtatattgtcCgggctgggttgggtgttaca	4	15	15	7	2	0	0	0	0	0	0	3	0	2	0	2	4	1	4	2	4	3	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:36876736C>T	ENST00000216185.2	-	2	615	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50Q			Q99757	THIOM_HUMAN	thioredoxin 2	50					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GTATATTGTCCGGGCTGGGTT	0.552													25	35					0	0	1	0	0	T	36876736	C	T	36876736	3	4	80	1	0	0	0	0	1	0	0	0	16853	652	23	1	363	1	TXN2	22	36876736	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	191810	36876736	14427830	524	1962											
IFT27	11020	broad.mit.edu	37	chr22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagatctgtgccagggCggtcttgcccactgctgggt	5	9	16	11	2	2	1	0	0	2	1	2	2	2	2	2	4	3	1	2	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:37163883C>T	ENST00000340630.5	-	2	500	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.A20T	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	20					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512													5	153					0	0	1	0	0	T	37163883	C	T	37163883	3	4	80	1	0	0	0	0	1	0	0	0	7603	768	27	1	526	1	IFT27	22	37163883	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	287147	37163883	14140683	525	1963											
RAC2	5880	broad.mit.edu	37	chr22	37628860	37628860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctgtggataggagagcGgccggagacggtcgtagtcc	7	7	17	10	5	1	2	0	0	1	2	3	5	2	3	3	5	1	1	3	5	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:37628860G>A	ENST00000249071.6	-	3	327	c.206C>T	c.(205-207)cCg>cTg	p.P69L	RAC2_ENST00000405484.1_Missense_Mutation_p.P62L|RAC2_ENST00000406508.1_Missense_Mutation_p.P25L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	69					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATAGGAGAGCGGCCGGAGACG	0.592													13	10					0	0	1	0	0	A	37628860	G	A	37628860	3	1	80	1	0	0	0	0	1	0	0	0	13027	1116	39	1	388	1	RAC2	22	37628860	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	464977	37628860	13675706	526	1964											
GGA1	26088	broad.mit.edu	37	chr22	38013030	38013030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggagaggccaccatccGtcccccgccatgtgacgaca	10	4	12	15	3	0	2	0	1	0	1	2	4	2	2	6	3	0	0	6	3	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38013030G>A	ENST00000381756.5	+	3	366	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Missense_Mutation_p.R77H|GGA1_ENST00000405147.3_Intron			Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	69	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCCACCATCCGTCCCCCGCCA	0.627													2	1					0	0	1	0	0	A	38013030	G	A	38013030	3	1	80	1	0	0	0	0	1	0	0	0	6394	1145	40	1	240	1	GGA1	22	38013030	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	384170	38013030	13291536	527	1965											
PLA2G6	8398	broad.mit.edu	37	chr22	38531030	38531030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggagggggctggctcCgtaacgggggtctttgctgt	4	10	18	9	2	1	0	0	0	1	0	2	1	2	1	2	6	2	4	2	6	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38531030C>T	ENST00000332509.3	-	6	1042	c.859G>A	c.(859-861)Gga>Aga	p.G287R	PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	287					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCTGGCTCCGTAACGGGGG	0.662													11	20					0	0	1	0	0	T	38531030	C	T	38531030	3	4	80	1	0	0	0	0	1	0	0	0	12056	661	23	1	1609	1	PLA2G6	22	38531030	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	518000	38531030	12773536	528	1966											
PLA2G6	8398	broad.mit.edu	37	chr22	38539156	38539156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagcataatggaagaCggtctctcccttgtagtcgg	9	10	12	10	2	1	1	0	0	1	1	4	3	2	3	1	4	1	2	1	4	3	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38539156C>T	ENST00000332509.3	-	4	748	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	PLA2G6_ENST00000335539.3_Missense_Mutation_p.V189I|PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.V189I	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	189					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TAATGGAAGACGGTCTCTCCC	0.597													50	142					0	0	1	0	0	T	38539156	C	T	38539156	3	4	80	1	0	0	0	0	1	0	0	0	12056	536	19	1	1911	1	PLA2G6	22	38539156	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8126	38539156	12765410	529	1967											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621887	41621887	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccatgcctcttcccaCgccatcttcccggccacctt	5	11	5	20	2	2	0	0	0	2	0	4	0	4	0	7	1	3	1	7	1	1	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:41621887C>T	ENST00000216237.5	+	12	1604	c.1446C>T	c.(1444-1446)caC>caT	p.H482H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	482					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCTTCCCACGCCATCTTCC	0.572													13	23					0	0	1	0	0	T	41621887	C	T	41621887	2	4	80	1	0	0	0	0	0	0	0	1	8631	535	19	1		1	L3MBTL2	22	41621887	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3082731	41621887	9682679	530	1968											
CELSR1	9620	broad.mit.edu	37	chr22	46859996	46859996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccgccaggcagcagcGccgagaaggtcacgttcagg	9	3	16	13	5	2	1	2	0	0	1	2	3	2	2	3	4	2	3	3	4	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:46859996G>A	ENST00000262738.3	-	2	3790	c.3791C>T	c.(3790-3792)gCg>gTg	p.A1264V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A1264V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1264					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGCAGCAGCGCCGAGAAGGT	0.632													5	52					0	0	1	0	0	A	46859996	G	A	46859996	3	1	80	1	0	0	0	0	1	0	0	0	3243	1087	38	1	5389	1	CELSR1	22	46859996	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5238109	46859996	4444570	531	1969											
MLC1	23209	broad.mit.edu	37	chr22	50515862	50515862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcctcctcgctggaccGtgcagcgatgatcaccgtgg	6	8	13	14	4	1	1	1	1	0	0	4	3	3	2	4	2	2	3	4	2	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50515862G>A	ENST00000311597.5	-	6	1099	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	MLC1_ENST00000431262.2_Missense_Mutation_p.R135W|MLC1_ENST00000535444.1_Missense_Mutation_p.R86W|MLC1_ENST00000450140.2_Missense_Mutation_p.R113W|MLC1_ENST00000538737.1_Missense_Mutation_p.R131W|MLC1_ENST00000395876.2_Missense_Mutation_p.R165W	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	165						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCGCTGGACCGTGCAGCGATG	0.632													17	20					0	0	1	0	0	A	50515862	G	A	50515862	3	1	80	1	0	0	0	0	1	0	0	0	9660	1144	40	1	668	1	MLC1	22	50515862	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3655866	50515862	788704	532	1970											
SBF1	6305	broad.mit.edu	37	chr22	50899059	50899059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggccctgatgtccggcGggtaccgcagcttatgcagc	6	8	15	12	3	0	1	0	1	0	0	1	1	1	1	3	4	4	4	3	4	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50899059G>A	ENST00000380817.3	-	24	3233	c.3050C>T	c.(3049-3051)cCg>cTg	p.P1017L	SBF1_ENST00000390679.3_Missense_Mutation_p.P1017L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1018L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						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)		GATGTCCGGCGGGTACCGCAG	0.602													18	54					0	0	1	0	0	A	50899059	G	A	50899059	3	1	80	1	0	0	0	0	1	0	0	0	13911	1116	39	1	2703	1	SBF1	22	50899059	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	383197	50899059	405507	533	1971											
CSF2RA	0	broad.mit.edu	37	chrX	1413315	1413315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacctatcagaagctgtcGtacctggactttcagtacca	11	10	9	11	1	2	1	2	0	0	1	3	3	2	3	3	2	3	3	3	2	4	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:1413315G>A	ENST00000381524.3	+	8	927	c.741G>A	c.(739-741)tcG>tcA	p.S247S	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.S247S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.S247S|CSF2RA_ENST00000355432.3_Silent_p.S247S|CSF2RA_ENST00000501036.2_Silent_p.S114S|CSF2RA_ENST00000381500.1_Silent_p.S247S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Silent_p.S247S|CSF2RA_ENST00000417535.2_Silent_p.S247S|CSF2RA_ENST00000361536.3_Silent_p.S247S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	247						extracellular region|integral to plasma membrane	cytokine receptor activity	p.S247S(1)		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)	AGAAGCTGTCGTACCTGGACT	0.597													12	54					0	0	1	0	0	A	1413315	G	A	1413315	2	1	80	1	0	0	0	0	0	0	0	1	3959	1132	40	1		1	CSF2RA	23	1413315	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		1413315	153857245	534	1972											
ASMTL	8623	broad.mit.edu	37	chrX	1546804	1546804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagccgcccccctccacGtcactgaggtcttcgaaggt	6	8	10	17	4	2	1	1	1	1	0	5	3	4	1	6	2	1	0	6	2	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:1546804G>A	ENST00000534940.1	-	7	771	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ASMTL_ENST00000381333.4_Silent_p.D224D|ASMTL_ENST00000381317.3_Silent_p.D240D|ASMTL_ENST00000416733.2_Silent_p.D164D|ASMTL_ENST00000463763.1_5'UTR	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	240	MAF-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)				CCCCCTCCACGTCACTGAGGT	0.697													3	47					0	0	1	0	0	A	1546804	G	A	1546804	2	1	80	1	0	0	0	0	0	0	0	1	1045	1136	40	1		1	ASMTL	23	1546804	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	133489	1546804	153723756	535	1973											
ARSF	416	broad.mit.edu	37	chrX	3002384	3002384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatggcatgccgttcactctCgttgacagctgctggccgga	6	11	12	12	3	2	1	1	1	1	0	3	2	2	2	2	3	3	5	2	3	1	3	rs141924849	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:3002384C>T	ENST00000381127.1	+	6	728	c.507C>T	c.(505-507)ctC>ctT	p.L169L	ARSF_ENST00000359361.2_Silent_p.L169L|ARSF_ENST00000537104.1_Silent_p.L169L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	169						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)				CGTTCACTCTCGTTGACAGCT	0.532													31	37					0	0	1	0	0	T	3002384	C	T	3002384	2	4	80	1	0	0	0	0	0	0	0	1	990	871	31	1		1	ARSF	23	3002384	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1455580	3002384	152268176	536	1974											
ASB11	0	broad.mit.edu	37	chrX	15306030	15306030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagagtgcctgctccaCgctgctttttggagccgcca	7	9	12	13	2	0	1	0	0	0	1	1	3	1	2	4	1	5	4	4	1	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:15306030C>T	ENST00000537676.1	-	6	829	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	ASB11_ENST00000344384.4_Missense_Mutation_p.V253M|ASB11_ENST00000480796.1_Missense_Mutation_p.V274M|ASB11_ENST00000380470.3_Missense_Mutation_p.V257M			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	274					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCCTGCTCCACGCTGCTTTTT	0.522													6	35					0	0	1	0	0	T	15306030	C	T	15306030	3	4	80	1	0	0	0	0	1	0	0	0	1014	536	19	1	159	1	ASB11	23	15306030	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12303646	15306030	139964530	537	1975											
PPEF1	5475	broad.mit.edu	37	chrX	18775810	18775810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtcctgaagcaaatgccGaatttcactcacatacaaac	17	8	5	11	1	2	1	2	1	0	0	3	2	3	1	2	0	4	1	2	0	6	2	rs143899775		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:18775810G>A	ENST00000361511.4	+	8	956	c.462G>A	c.(460-462)ccG>ccA	p.P154P	PPEF1_ENST00000359763.6_Silent_p.P101P|PPEF1_ENST00000543630.1_Silent_p.P154P|PPEF1_ENST00000349874.5_Silent_p.P154P|PPEF1_ENST00000544635.1_Silent_p.P89P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	154	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)					AGCAAATGCCGAATTTCACTC	0.413													89	114					0	0	1	0	0	A	18775810	G	A	18775810	2	1	80	1	0	0	0	0	0	0	0	1	12352	1045	37	1		1	PPEF1	23	18775810	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3469780	18775810	136494750	538	1976											
PHKA2	5256	broad.mit.edu	37	chrX	18944633	18944633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaattggatgaatgtccGcgatactctggacgttcacc	9	12	10	10	3	2	2	1	2	1	0	3	5	3	4	2	2	1	1	2	2	3	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:18944633G>A	ENST00000379942.4	-	14	2062	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	466					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)					ATGAATGTCCGCGATACTCTG	0.458													12	100					0	0	1	0	0	A	18944633	G	A	18944633	3	1	80	1	0	0	0	0	1	0	0	0	11892	1087	38	1	2390	1	PHKA2	23	18944633	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	168823	18944633	136325927	539	1977											
MAP7D2	256714	broad.mit.edu	37	chrX	20081643	20081643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctccatttgcttttcGtactgcagcctggctctttt	3	17	7	14	2	1	0	0	0	1	0	4	0	3	0	3	1	4	5	3	1	1	6			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:20081643G>A	ENST00000379651.3	-	3	279	c.261C>T	c.(259-261)taC>taT	p.Y87Y	MAP7D2_ENST00000452324.3_Silent_p.Y43Y|MAP7D2_ENST00000379643.5_Silent_p.Y87Y|MAP7D2_ENST00000443379.3_Silent_p.Y87Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	87										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						TTTGCTTTTCGTACTGCAGCC	0.527													45	51					0	0	1	0	0	A	20081643	G	A	20081643	2	1	80	1	0	0	0	0	0	0	0	1	9318	1140	40	1		1	MAP7D2	23	20081643	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1137010	20081643	135188917	540	1978											
MBTPS2	51360	broad.mit.edu	37	chrX	21886609	21886609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcataattttgtccttgCactcttgggtattttagctc	6	18	8	9	0	1	0	0	0	1	0	3	0	2	0	1	2	2	4	1	2	3	8			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:21886609C>T	ENST00000365779.2	+	6	776	c.695C>T	c.(694-696)gCa>gTa	p.A232V	MBTPS2_ENST00000379484.5_Missense_Mutation_p.A232V			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	232					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTTGTCCTTGCACTCTTGGGT	0.433													6	153					0	0	1	0	0	T	21886609	C	T	21886609	3	4	80	1	0	0	0	0	1	0	0	0	9412	710	25	2	717	2	MBTPS2	23	21886609	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1804966	21886609	133383951	541	1979											
NYX	60506	broad.mit.edu	37	chrX	41333540	41333540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggttcgctgacctggcCgagctcgagctgctctacct	4	10	12	15	3	1	1	0	1	1	0	3	3	1	1	4	2	4	5	4	2	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:41333540C>T	ENST00000342595.2	+	2	1290	c.834C>T	c.(832-834)gcC>gcT	p.A278A	NYX_ENST00000378220.1_Silent_p.A278A	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	278					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTGACCTGGCCGAGCTCGAGC	0.711													7	18					0	0	1	0	0	T	41333540	C	T	41333540	2	4	80	1	0	0	0	0	0	0	0	1	10845	639	23	1		1	NYX	23	41333540	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	19446931	41333540	113937020	542	1980											
MAOB	4129	broad.mit.edu	37	chrX	43702951	43702951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcccacacggtcccGggcttccagaacaaccacat	9	6	7	19	2	0	1	0	0	0	1	3	1	3	1	6	2	3	1	6	2	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:43702951G>A	ENST00000378069.4	-	2	253	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	MAOB_ENST00000536181.1_Missense_Mutation_p.R20W|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Missense_Mutation_p.R20W	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	36	Arg/Lys-rich (basic).				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	ACACGGTCCCGGGCTTCCAGA	0.483													12	38					0	0	1	0	0	A	43702951	G	A	43702951	3	1	80	1	0	0	0	0	1	0	0	0	9276	1115	39	1	1512	1	MAOB	23	43702951	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2369411	43702951	111567609	543	1981											
CFP	5199	broad.mit.edu	37	chrX	47485874	47485874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggacttcatgttccgtcGgatacaggggctccactccc	7	10	11	13	2	1	0	1	0	0	0	5	3	4	2	3	4	1	2	3	4	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:47485874G>A	ENST00000247153.3	-	8	1226	c.985C>T	c.(985-987)Cga>Tga	p.R329*	CFP_ENST00000396992.3_Nonsense_Mutation_p.R329*|CFP_ENST00000377005.2_Nonsense_Mutation_p.R329*	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	329	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATGTTCCGTCGGATACAGGGG	0.612													8	13					0	0	1	0	0	A	47485874	G	A	47485874	4	1	80	1	0	0	0	0	0	1	0	0	3315	1124	39	1	436	1	CFP	23	47485874	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3782923	47485874	107784686	544	1982											
HUWE1	10075	broad.mit.edu	37	chrX	53602625	53602625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatggaaaaacctgactgcGtatcaaagtcactgctctga	14	10	8	9	1	3	2	2	2	1	0	3	3	3	3	1	1	3	2	1	1	5	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:53602625G>A	ENST00000342160.3	-	44	6465	c.6008C>T	c.(6007-6009)aCg>aTg	p.T2003M	HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2003					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						ACCTGACTGCGTATCAAAGTC	0.458													5	39					0	0	1	0	0	A	53602625	G	A	53602625	3	1	80	1	0	0	0	0	1	0	0	0	7505	1145	40	1	7276	1	HUWE1	23	53602625	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6116751	53602625	101667935	545	1983											
RGAG4	340526	broad.mit.edu	37	chrX	71349781	71349781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggcgttgtcctaaaCgacctgtgcggcgaatcagt	9	10	12	10	4	1	0	1	0	0	0	2	3	2	0	2	2	3	1	2	2	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71349781C>T	ENST00000545866.1	-	1	1977	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	537										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGTCCTAAACGACCTGTGCG	0.587													4	27					0	0	1	0	0	T	71349781	C	T	71349781	3	4	80	1	0	0	0	0	1	0	0	0	13327	536	19	1	103	1	RGAG4	23	71349781	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17747156	71349781	83920779	546	1984											
RGAG4	340526	broad.mit.edu	37	chrX	71350832	71350832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatcagaaaggccacccGctcggcgcccccggggaaat	10	3	14	14	4	1	2	1	0	0	2	2	4	1	3	4	5	0	1	4	5	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71350832G>A	ENST00000545866.1	-	1	926	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RGAG4_ENST00000609883.1_Missense_Mutation_p.R187W|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	187										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAGGCCACCCGCTCGGCGCCC	0.582													6	47					0	0	1	0	0	A	71350832	G	A	71350832	3	1	80	1	0	0	0	0	1	0	0	0	13327	1086	38	1	1154	1	RGAG4	23	71350832	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1051	71350832	83919728	547	1985											
ERCC6L	54821	broad.mit.edu	37	chrX	71427099	71427099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgagtaactgtcccatcGattcgcaatgtcttaaagtg	12	12	9	8	2	1	2	0	1	1	1	4	3	2	2	1	0	1	2	1	0	4	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71427099G>A	ENST00000373657.1	-	3	1751	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.I506I			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	506					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTGTCCCATCGATTCGCAATG	0.373													20	59					0	0	1	0	0	A	71427099	G	A	71427099	2	1	80	1	0	0	0	0	0	0	0	1	5246	1048	37	1		1	ERCC6L	23	71427099	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	76267	71427099	83843461	548	1986											
SLC16A2	6567	broad.mit.edu	37	chrX	73751218	73751218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggccttctactttgccGgtgtgccccccatcatcggg	4	12	11	14	2	2	0	1	0	1	0	3	0	2	0	5	3	3	0	5	3	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:73751218G>A	ENST00000276033.5	+	6	1838	c.1672G>A	c.(1672-1674)Ggt>Agt	p.G558S	SLC16A2_ENST00000587091.1_Missense_Mutation_p.G484S			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	484						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTACTTTGCCGGTGTGCCCCC	0.502													27	26					0	0	1	0	0	A	73751218	G	A	73751218	3	1	80	1	0	0	0	0	1	0	0	0	14463	1116	39	1	1694	1	SLC16A2	23	73751218	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2324119	73751218	81519342	549	1987											
PGAM4	441531	broad.mit.edu	37	chrX	77224669	77224669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcaatagtatccttcGgactctcataggagggtagc	9	11	11	10	1	2	0	1	0	2	0	5	2	3	2	1	4	1	3	1	4	5	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:77224669G>A	ENST00000458128.1	-	1	466	c.467C>T	c.(466-468)cCg>cTg	p.P156L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	156					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						AGTATCCTTCGGACTCTCATA	0.517													23	73					0	0	1	0	0	A	77224669	G	A	77224669	3	1	80	1	0	0	0	0	1	0	0	0	11823	1116	39	1	301	1	PGAM4	23	77224669	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3473451	77224669	78045891	550	1988											
PCDH19	57526	broad.mit.edu	37	chrX	99662742	99662742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgaaagagctcgcgcGtgcggtcgttgacgtagcca	8	8	14	11	7	1	3	0	2	1	1	3	4	1	3	1	1	3	3	1	1	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:99662742G>A	ENST00000373034.4	-	1	2529	c.854C>T	c.(853-855)aCg>aTg	p.T285M	PCDH19_ENST00000420881.2_Missense_Mutation_p.T285M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T285M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	285	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGCTCGCGCGTGCGGTCGTT	0.612													20	61					0	0	1	0	0	A	99662742	G	A	99662742	3	1	80	1	0	0	0	0	1	0	0	0	11561	1145	40	1	2616	1	PCDH19	23	99662742	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22438073	99662742	55607818	551	1989											
ARMCX1	51309	broad.mit.edu	37	chrX	100808010	100808010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggcttggggaagagacGagaacgagaaaatctgggac	14	5	16	6	2	1	3	0	0	1	3	1	9	1	5	0	4	1	1	0	4	4	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:100808010G>A	ENST00000372829.3	+	4	468	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	33						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						GGGAAGAGACGAGAACGAGAA	0.572													3	31					0	0	1	0	0	A	100808010	G	A	100808010	3	1	80	1	0	0	0	0	1	0	0	0	958	1059	37	1	99	1	ARMCX1	23	100808010	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1145268	100808010	54462550	552	1990											
ARMCX2	9823	broad.mit.edu	37	chrX	100912019	100912019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagtgggtgctgccgcttCggtaggcaccactgtcccag	5	9	13	14	2	1	0	1	0	0	0	3	0	2	0	3	3	2	4	3	3	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:100912019C>T	ENST00000328766.5	-	5	1009	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	ARMCX2_ENST00000330154.2_Missense_Mutation_p.E186K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E186K	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	186	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						GCTGCCGCTTCGGTAGGCACC	0.647													19	38					0	0	1	0	0	T	100912019	C	T	100912019	3	4	80	1	0	0	0	0	1	0	0	0	959	893	31	1	1346	1	ARMCX2	23	100912019	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	104009	100912019	54358541	553	1991											
ZMAT1	84460	broad.mit.edu	37	chrX	101159302	101159302	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcattccaaatggcGtctgtgaataaaaaagggaa	14	11	9	7	1	2	1	1	1	1	0	4	2	4	2	2	2	0	1	2	2	6	3	rs141888312		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:101159302G>A	ENST00000458570.1	-	0	316				ZMAT1_ENST00000540921.1_Splice_Site_p.D41D|ZMAT1_ENST00000372782.3_Splice_Site_p.D41D	NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1							nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCAAATGGCGTCTGTGAATA	0.299													4	14					0	0	1	0	0	A	101159302	G	A	101159302	1	1	80	1	0	0	0	0	0	0	0	0	17749	1159	40	1		1	ZMAT1	23	101159302	Translation_Start_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	247283	101159302	54111258	554	1992											
SEPT6	23157	broad.mit.edu	37	chrX	118774741	118774741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccaatgacagcaaacGgcaggtgggcctgaaaccga	12	5	13	11	2	0	2	0	2	0	0	0	3	0	2	3	3	5	3	3	3	3	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:118774741G>A	ENST00000394610.1	-	6	965	c.701C>T	c.(700-702)cCg>cTg	p.P234L	SEPT6_ENST00000354228.4_Missense_Mutation_p.P234L|SEPT6_ENST00000360156.7_Missense_Mutation_p.P234L|SEPT6_ENST00000394617.2_Missense_Mutation_p.P264L|SEPT6_ENST00000489216.1_Missense_Mutation_p.P234L|SEPT6_ENST00000354416.3_Missense_Mutation_p.P234L|SEPT6_ENST00000343984.5_Missense_Mutation_p.P234L|SEPT6_ENST00000394616.4_Missense_Mutation_p.P176L	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	234					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						GACAGCAAACGGCAGGTGGGC	0.547			T	MLL	AML								18	33					0	0	1	0	0	A	118774741	G	A	118774741	3	1	80	1	0	0	0	0	1	0	0	0	14122	1116	39	1	645	1	SEPT6	23	118774741	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	17615439	118774741	36495819	555	1993											
FAM127A	8933	broad.mit.edu	37	chrX	134166518	134166518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccgagacgtttgacggCgataccgaccgactcccgga	8	8	11	14	7	0	2	0	1	0	1	2	7	2	3	4	2	1	1	4	2	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:134166518C>T	ENST00000257013.7	+	1	186	c.105C>T	c.(103-105)ggC>ggT	p.G35G	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	35										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CGTTTGACGGCGATACCGACC	0.622													13	67					0	0	1	0	0	T	134166518	C	T	134166518	2	4	80	1	0	0	0	0	0	0	0	1	5462	755	27	1		1	FAM127A	23	134166518	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15391777	134166518	21104042	556	1994											
GPR101	83550	broad.mit.edu	37	chrX	136112961	136112961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactactctcactggtcccCgtgcttccttccttggcctt	4	14	6	17	1	1	0	1	0	1	0	5	0	4	0	5	2	2	1	5	2	1	5			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:136112961C>T	ENST00000298110.1	-	1	872	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	291						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)					CACTGGTCCCCGTGCTTCCTT	0.612													33	50					0	0	1	0	0	T	136112961	C	T	136112961	2	4	80	1	0	0	0	0	0	0	0	1	6662	639	23	1		1	GPR101	23	136112961	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1946443	136112961	19157599	557	1995											
CNGA2	1260	broad.mit.edu	37	chrX	150908176	150908176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagggggatggcaaaggcGacaaggatggcgaggacaaa	15	2	19	5	2	0	0	0	0	0	0	0	6	0	4	0	8	0	1	0	8	3	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:150908176G>A	ENST00000329903.4	+	3	379	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	116					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)					TGGCAAAGGCGACAAGGATGG	0.532													12	37					0	0	1	0	0	A	150908176	G	A	150908176	3	1	80	1	0	0	0	0	1	0	0	0	3620	1058	37	1	356	1	CNGA2	23	150908176	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14795215	150908176	4362384	558	1996											
