Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RTL1	388015	broad.mit.edu	37	14	101350838	101350838	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:101350838G>A	uc010txj.1	-	0	347	c.288C>T	c.(286-288)ctC>ctT	p.L96L	MIR432_uc021sce.1_Non-coding_Transcript|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	96										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCAGGTCTTGGAGTAGGTCAT	0.532000														35			31		0	0	0.000814825	0	0
ZNF99	7652	broad.mit.edu	37	19	22940885	22940885	+	Missense_Mutation	SNP	C	T	T	rs78202728		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:22940885C>T	uc021urt.1	-	3	1981	c.1826G>A	c.(1825-1827)aGa>aAa	p.R609K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.T609T(1)|p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGATGTTTTCTAAGGGCTGA	0.373000														32			7		0	0	0.000673444	0	0
PPP6C	5537	broad.mit.edu	37	9	127915952	127915952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:127915952G>A	uc010mwv.3	-	6	861	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PPP6C_uc004bpg.4_Nonsense_Mutation_p.R177*|PPP6C_uc010mww.3_Nonsense_Mutation_p.R155*|PPP6C_uc011lzr.2_Nonsense_Mutation_p.R30*	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	177					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCGATGGTTCGAATTTGATCC	0.408000														21			22		0	0	0.000295444	0	0
LIN52	91750	broad.mit.edu	37	14	74564499	74564499	+	Silent	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:74564499T>C	uc001xpp.2	+	3	157	c.147T>C	c.(145-147)ccT>ccC	p.P49P	LIN52_uc010asb.2_Non-coding_Transcript	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN	Homo sapiens lin-52 homolog (C. elegans) (LIN52), mRNA.	49										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		TTTGACAGCCTATTACTAGTT	0.408000														22			7		0	0	0.000442599	0	0
KRT12	3859	broad.mit.edu	37	17	39022959	39022959	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:39022959C>T	uc002hvk.2	-	0	504	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	160	Coil 1A.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTGTTTCATACCATTCTCGAA	0.388000														95			16		0	0	0.00121646	0	0
PEG3	5178	broad.mit.edu	37	19	57326708	57326708	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:57326708C>T	uc002qnu.2	-	6	3453	c.3102G>A	c.(3100-3102)aaG>aaA	p.K1034K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.K1005K|PEG3_uc002qnv.2_Silent_p.K1034K|PEG3_uc002qnw.2_Silent_p.K910K|PEG3_uc002qnx.2_Silent_p.K908K|PEG3_uc010etr.2_Silent_p.K1034K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1034					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1033F(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCTGAAGTCCTTACATTTGT	0.463000														47			15		0	0	0.000219431	0	0
ATP12A	479	broad.mit.edu	37	13	25265130	25265130	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:25265130C>T	uc010aaa.3	+	7	1161	c.828C>T	c.(826-828)acC>acT	p.T276T	ATP12A_uc001upp.3_Silent_p.T270T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	270					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCACTGTCACCGGCATGGTTA	0.562000														95			24		0	0	0.000878237	0	0
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:111317000C>T	uc003dxw.3	+	6	1059	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	CD96_uc003dxv.3_Missense_Mutation_p.P281S|CD96_uc003dxx.3_Missense_Mutation_p.P281S|CD96_uc010hpy.1_Missense_Mutation_p.P281S|ZBED2_uc003dxy.3_5'Flank	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	297	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAATGTATTTCCCAAAGCAAA	0.323000									Opitz Trigonocephaly syndrome					186			98		0	0	0.000781405	0	0
ATR	545	broad.mit.edu	37	3	142218479	142218479	+	Nonsense_Mutation	SNP	A	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:142218479A>T	uc003eux.4	-	30	5492	c.5370T>A	c.(5368-5370)taT>taA	p.Y1790*		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1790	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGCTGCCAAATAGTTTTCCA	0.458000								Other conserved DNA damage response genes						92			45		0	0	0.000781405	0	0
PLEC	5339	broad.mit.edu	37	8	144999609	144999609	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:144999609G>A	uc003zaf.1	-	30	5069	c.4899C>T	c.(4897-4899)gcC>gcT	p.A1633A	PLEC_uc003zab.1_Silent_p.A1496A|PLEC_uc003zac.1_Silent_p.A1500A|PLEC_uc003zad.2_Silent_p.A1496A|PLEC_uc003zae.1_Silent_p.A1464A|PLEC_uc003zag.1_Silent_p.A1474A|PLEC_uc003zah.2_Silent_p.A1482A|PLEC_uc003zaj.2_Silent_p.A1523A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1633	Central fibrous rod domain.				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						GCAAGCGCTCGGCCTCCTCCT	0.741000														11			5		0	0	0.000602214	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776386	159776386	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:159776386C>T	uc003lyd.3	-	2	786	c.782G>A	c.(781-783)gGc>gAc	p.G261D		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	216	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGTACTGGCCGTTGTGCAC	0.607000														36			6		0	0	0.00116845	0	0
AQP6	363	broad.mit.edu	37	12	50367207	50367208	+	Missense_Mutation	DNP	CC	TT	TT	rs147805945		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:50367207_50367208CC>TT	uc001rvr.1	+	0	944_945	c.251_252CC>TT	c.(250-252)gcc>gTT	p.A84V	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	84					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GCCAACCCCGCCGTGACGCTGG	0.673000														32			14		0	0	6.4e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12332894	12332894	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:12332894C>A	uc001rah.4	-	6	1537	c.1395G>T	c.(1393-1395)tgG>tgT	p.W465C	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.W465C	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	465	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAATTTCTCCCCAGTCAGTCC	0.383000														291			12		0.00136819	0.00728216	0.00136819	1	0
SUN3	256979	broad.mit.edu	37	7	48048663	48048663	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:48048663G>A	uc003tof.3	-	4	395	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	SUN3_uc010kyq.3_5'UTR|SUN3_uc003tog.3_Missense_Mutation_p.R100C|SUN3_uc011kcf.2_Missense_Mutation_p.R88C	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	100						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGGCATACGAAGTCTGGCC	0.338000														67			38		0	0	0.00128727	0	0
TBCD	6904	broad.mit.edu	37	17	80726308	80726308	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:80726308C>A	uc002kfy.1	+	4	578	c.448C>A	c.(448-450)Cgc>Agc	p.R150S	TBCD_uc002kfx.1_Missense_Mutation_p.R133S|TBCD_uc002kfz.3_Missense_Mutation_p.R150S	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	150					'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	GTPase activator activity|beta-tubulin binding|chaperone binding	p.R150S(1)				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)			TTGGGAAACCCGCTACATGCT	0.507000														255			12		0.00185496	0.0098373	0.00185496	1	0
KGFLP2	654466	broad.mit.edu	37	9	41962661	41962661	+	RNA	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:41962661G>A	uc004aca.4	-	2		c.848C>T								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTTCCCCTCCGTTGTTTGTCC	0.368000														14			4		0	0	8.12818e-05	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585545	4585545	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:4585545C>T	uc003zij.2	+	11	1815	c.1562C>T	c.(1561-1563)aCc>aTc	p.T521I	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	521					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TTCACCCAGACCTCACAGTTC	0.463000														33			33		0	0	0.000814825	0	0
MAGED1	9500	broad.mit.edu	37	X	51640148	51640148	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:51640148G>A	uc004dpn.3	+	4	1755	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	MAGED1_uc004dpm.3_Missense_Mutation_p.R466Q|MAGED1_uc004dpo.3_Missense_Mutation_p.R466Q	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	466	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	p.R522*(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCACAGCCCCGAGATGTGGCC	0.547000										Multiple Myeloma(10;0.10)				24			7		0	0	0.000274275	0	0
ATP7B	540	broad.mit.edu	37	13	52548094	52548094	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:52548094C>T	uc001vfw.2	-	1	1419	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	ATP7B_uc001vfy.2_Missense_Mutation_p.G310E|ATP7B_uc010adv.2_Missense_Mutation_p.G421E|ATP7B_uc001vfx.2_Missense_Mutation_p.G421E|ATP7B_uc010tgt.1_Missense_Mutation_p.G421E|ATP7B_uc010tgu.1_Missense_Mutation_p.G421E|ATP7B_uc010tgv.1_Missense_Mutation_p.G421E|ATP7B_uc010tgw.1_Missense_Mutation_p.G389E	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	421	HMA 4.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGCCTCAAATCCCATGTCTTC	0.453000									Wilson disease					33			39		0	0	0.000509022	0	0
VNN3	55350	broad.mit.edu	37	6	133044077	133044077	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:133044077C>T	uc011ecm.2	-	6	1612	c.720G>A	c.(718-720)ggG>ggA	p.G240G	VNN3_uc010kfs.3_Silent_p.G206G|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Silent_p.G240G|VNN3_uc010kfu.3_Silent_p.G240G|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Silent_p.G240G|VNN3_uc010kfx.3_Silent_p.G206G|VNN3_uc010kfy.3_Silent_p.G206G|VNN3_uc010kfz.3_3'UTR					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACTGGAATTTCCCAGATCCCT	0.473000														26			5		0	0	8.12818e-05	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481317	142481317	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:142481317G>A	uc011ksq.2	+	2	474	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TCTGCCCACTGCCCCTCCAGC	0.547000														18			6		0	0	0.000157383	0	0
FGA	2243	broad.mit.edu	37	4	155505773	155505773	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:155505773C>T	uc003iod.1	-	5	2162	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	702	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.D701D(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCCCCTCGTCATTCAGG	0.488000														60			33		0	0	0.000814825	0	0
GPR1	2825	broad.mit.edu	37	2	207041026	207041026	+	Missense_Mutation	SNP	G	A	A	rs142744381		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:207041026G>A	uc021vvl.1	-	0	946	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	GPR1_uc002vbl.4_Missense_Mutation_p.R316W|GPR1_uc010fue.3_Missense_Mutation_p.R316W|GPR1_uc010fuf.3_Missense_Mutation_p.R316W	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	316						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ACTGAGGACCGGAAGCGAGCT	0.488000														47			12		0	0	0.00136819	0	0
EDC4	23644	broad.mit.edu	37	16	67913551	67913551	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:67913551C>T	uc002eur.3	+	14	1934	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	EDC4_uc010cer.3_Silent_p.S184S|EDC4_uc010vkg.1_Silent_p.S497S|EDC4_uc002eus.3_Silent_p.S295S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	565					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCACGGCTCCCAGCCTGACC	0.607000														32			12		0	0	0.000978159	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058852	46058852	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:46058852T>C	uc010wlc.2	+	13	1689	c.1565T>C	c.(1564-1566)aTg>aCg	p.M522T	CDK5RAP3_uc002imq.1_Intron|CDK5RAP3_uc002imr.3_Missense_Mutation_p.M502T|CDK5RAP3_uc002ims.3_Missense_Mutation_p.M415T	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	502					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GTGAACCTGATGGGAACCTCT	0.547000														65			4		0	0	0.000602214	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927241	35927241	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:35927241G>A	uc003olm.3	-	15	1970	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.P202L|SLC26A8_uc003oll.3_Missense_Mutation_p.P515L|SLC26A8_uc003oln.3_Missense_Mutation_p.P620L	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	620	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTAACCCTGGGCAGCGGCTC	0.358000														59			33		0	0	0.000953801	0	0
PIGU	128869	broad.mit.edu	37	20	33232014	33232014	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:33232014G>A	uc002xas.3	-	3	472	c.272C>T	c.(271-273)aCt>aTt	p.T91I	PIGU_uc010zul.2_Missense_Mutation_p.T91I|PIGU_uc002xat.3_Missense_Mutation_p.T71I|PIGU_uc010gev.1_Non-coding_Transcript	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	91					C-terminal protein lipidation|attachment of GPI anchor to protein|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						GGCAATAGCAGTGAGTGCATC	0.413000														105			19		0	0	0.00121646	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41626181	41626181	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:41626181G>A	uc003azo.3	+	16	2098	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	L3MBTL2_uc003azn.3_Non-coding_Transcript|CHADL_uc003azq.4_Intron|CHADL_uc010gyj.3_Intron	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	682					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						TCTAGACGTGGCCTCGCCCGA	0.602000														50			15		0	0	0.00152264	0	0
PLG	5340	broad.mit.edu	37	6	161127528	161127528	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:161127528G>A	uc003qtm.4	+	1	251	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PLG_uc021zhr.1_Missense_Mutation_p.E47K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	47	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.E47K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGAAGTATAGAAGAATGTGC	0.483000														91			31		0	0	0.001512	0	0
BC101079	0	broad.mit.edu	37	15	102292820	102292820	+	Silent	SNP	G	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:102292820G>C	uc010usj.2	+	3	467	c.408G>C	c.(406-408)acG>acC	p.T136T	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000														11			3		0	0	6.4e-05	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142254733	142254733	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:142254733G>A	uc011dbj.2	+	2	344	c.309G>A	c.(307-309)cgG>cgA	p.R103R	ARHGAP26_uc003lmt.3_Silent_p.R103R|ARHGAP26_uc003lmw.3_Silent_p.R103R	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	103					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGGATACGGATGGTGAGTA	0.483000														60			14		0	0	0.000422831	0	0
MMAA	166785	broad.mit.edu	37	4	146563584	146563585	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:146563584_146563585GA>AC	uc003ikh.4	+	2	594_595	c.509_510GA>AC	c.(508-510)aga>aAC	p.R170N	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	170						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.R170I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTACTGAGAGAGGGCACAAAT	0.426000														138			18		0	0	6.4e-05	0	0
AGAP11	119385	broad.mit.edu	37	10	88769503	88769503	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:88769503G>A	uc001kee.2	+	11	2698	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	498					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGCCGCAAGGGGAATGTGG	0.672000														26			17		0	0	0.000295444	0	0
SLX4	84464	broad.mit.edu	37	16	3640721	3640721	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:3640721G>A	uc002cvp.2	-	11	3545	c.2918C>T	c.(2917-2919)tCt>tTt	p.S973F		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	973	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTGCGGAAGAGAGCCTTCTTT	0.587000								Direct reversal of damage						61			18		0	0	0.00188189	0	0
F8	2157	broad.mit.edu	37	X	154157824	154157824	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:154157824G>A	uc004fmt.3	-	13	4412	c.4241C>T	c.(4240-4242)tCa>tTa	p.S1414L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1414	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGATGGAAATGATGATACCTT	0.423000														71			27		0	0	0.000720815	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49280991	49280991	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:49280991C>T	uc010acw.1	+	1	328	c.38C>T	c.(37-39)tCc>tTc	p.S13F	CYSLTR2_uc010acx.1_Missense_Mutation_p.S13F|CYSLTR2_uc010acy.1_Missense_Mutation_p.S13F|CYSLTR2_uc010acz.1_Missense_Mutation_p.S13F|CYSLTR2_uc010ada.1_Missense_Mutation_p.S13F|CYSLTR2_uc010adb.1_Missense_Mutation_p.S13F|CYSLTR2_uc010adc.1_Missense_Mutation_p.S13F|CYSLTR2_uc010add.1_Missense_Mutation_p.S13F|CYSLTR2_uc001vck.2_Missense_Mutation_p.S13F|CYSLTR2_uc021rjl.1_Missense_Mutation_p.S13F	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	13					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)	CCATCCATCTCCGTATCAGAA	0.373000														44			37		0	0	0.000589545	0	0
PTPRU	10076	broad.mit.edu	37	1	29581894	29581894	+	Missense_Mutation	SNP	C	T	T	rs148144154		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:29581894C>T	uc001bru.3	+	1	310	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	PTPRU_uc009vtq.3_Missense_Mutation_p.R61W|PTPRU_uc009vtr.3_Missense_Mutation_p.R61W|PTPRU_uc001brw.3_Missense_Mutation_p.R61W	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	61	MAM.				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)		CCCTGGCACCCGGGCACCTGC	0.607000														73			13		0	0	0.000308642	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543721	141543721	+	Missense_Mutation	SNP	G	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:141543721G>C	uc010ioj.3	-	20	3701	c.3429C>G	c.(3427-3429)aaC>aaG	p.N1143K		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1143						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGCAGGCCCCGTTGTCCCGGG	0.637000														77			14		0	0	0.000566183	0	0
SLC9C1	285335	broad.mit.edu	37	3	111997653	111997653	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:111997653G>A	uc003dyu.3	-	3	463	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.R81C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	81					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GTAAATATACGAAAAAATAAG	0.313000														100			49		0	0	0.000781405	0	0
C2orf71	388939	broad.mit.edu	37	2	29294548	29294548	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:29294548C>T	uc002rmt.2	-	0	2580	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	860					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						CCTGGGTTTCCTTGGGGGAGT	0.607000														37			23		0	0	0.00047179	0	0
ASH1L	55870	broad.mit.edu	37	1	155450565	155450565	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:155450565C>T	uc009wqq.3	-	2	2576	c.2096G>A	c.(2095-2097)aGc>aAc	p.S699N	ASH1L_uc001fkt.3_Missense_Mutation_p.S699N|ASH1L_uc009wqr.1_Missense_Mutation_p.S699N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	699					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTACTTAGGCTTTCAGCAAC	0.393000														33			30		0	0	0.001512	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022519	99022520	+	Silent	DNP	GG	AA	AA			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:99022519_99022520GG>AA	uc011kiw.2	-	6	1842_1843	c.1782_1783CC>TT	c.(1780-1785)gtcctg>gtTTtg	p.594_595VL>VL	ATP5J2-PTCD1_uc003uqh.3_Silent_p.545_546VL>VL	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	594																	CTCTTTGCCAGGACCGGCAACA	0.589000														32			12		0	0	6.4e-05	0	0
ATP8A2	51761	broad.mit.edu	37	13	26133866	26133867	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:26133866_26133867CC>AA	uc001uqk.3	+	14	1502_1503	c.1360_1361CC>AA	c.(1360-1362)cca>AAa	p.P454K	ATP8A2_uc010tdi.2_Missense_Mutation_p.P414K|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.P414K	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	414					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAGTCACTTCCCAGAATTGGCA	0.361000														79			6		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179574440	179574440	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179574440G>A	uc021vsy.1	-	95	25099	c.24874C>T	c.(24874-24876)Cca>Tca	p.P8292S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4953S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9219	Ig-like 65.						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)			TTAGAAGTTGGTTGTATCTCT	0.413000														97			8		0	0	0.00136819	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86568250	86568250	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:86568250G>A	uc011kha.2	-	6	1059	c.874C>T	c.(874-876)Cct>Tct	p.P292S	KIAA1324L_uc003uie.3_Missense_Mutation_p.P125S|KIAA1324L_uc011kgz.2_Missense_Mutation_p.P178S|KIAA1324L_uc003uif.2_Missense_Mutation_p.P44S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	292						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)					GGCTTGCAAGGAAAACATTCT	0.463000														36			12		0	0	0.000978159	0	0
CAD	790	broad.mit.edu	37	2	27465600	27465600	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:27465600C>T	uc002rji.3	+	40	6497	c.6335C>T	c.(6334-6336)cCa>cTa	p.P2112L	CAD_uc010eyw.3_Missense_Mutation_p.P2049L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2112	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCGCATGCCACCCACTGTG	0.652000														25			13		0	0	0.000308642	0	0
DEFB125	245938	broad.mit.edu	37	20	76875	76875	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:76875G>A	uc002wcw.3	+	1	288	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	96					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATCTATGTTGAATGATCTGA	0.408000														110			15		0	0	0.000219431	0	0
THSD7A	221981	broad.mit.edu	37	7	11633060	11633060	+	Silent	SNP	G	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:11633060G>C	uc021zzo.1	-	2	1344	c.1092C>G	c.(1090-1092)tcC>tcG	p.S364S	THSD7A_uc021zzn.1_Silent_p.S364S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	364	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGACCACTCGGAAACCTGGC	0.498000										HNSCC(18;0.044)				39			28		0	0	0.00106085	0	0
PCDH10	57575	broad.mit.edu	37	4	134071330	134071330	+	Missense_Mutation	SNP	T	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:134071330T>G	uc003iha.3	+	0	861	c.35T>G	c.(34-36)aTg>aGg	p.M12R	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.M12R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTGCTCTGGATGGTGGAAGGA	0.517000														128			15		0	0	0.000422831	0	0
OR5T1	390155	broad.mit.edu	37	11	56043751	56043751	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr11:56043751T>C	uc001nio.1	+	0	637	c.637T>C	c.(637-639)Tac>Cac	p.Y213H		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y213H(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTCTTCTACTTTGTGGG	0.418000														128			19		0	0	0.000958276	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003354	23003354	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:23003354G>A	uc003xcz.1	-	4	655	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	188					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTCCCAGTGGAACTGGCAGC	0.522000														65			13		0	0	0.000219431	0	0
VIL1	7429	broad.mit.edu	37	2	219294086	219294086	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:219294086G>A	uc002vib.3	+	5	668	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.E216K|VIL1_uc002vic.1_Missense_Mutation_p.E216K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	216	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAGAGAATGAATTGGCATC	0.647000														40			18		0	0	0.00121646	0	0
STAT6	6778	broad.mit.edu	37	12	57496186	57496186	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:57496186G>A	uc009zpg.3	-	12	1548	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	STAT6_uc009zpe.3_Missense_Mutation_p.R467W|STAT6_uc001sna.3_Missense_Mutation_p.R467W|STAT6_uc009zpf.3_Missense_Mutation_p.R467W|STAT6_uc010srb.2_Missense_Mutation_p.R357W|STAT6_uc010src.2_Missense_Mutation_p.R357W|STAT6_uc010srd.2_Missense_Mutation_p.R357W	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	467					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCAGCCCCCGGTTGGTCCCC	0.592000														64			23		0	0	0.000586117	0	0
AZI2	64343	broad.mit.edu	37	3	28365566	28365566	+	Silent	SNP	A	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:28365566A>G	uc003ceb.3	-	7	1678	c.1146T>C	c.(1144-1146)gaT>gaC	p.D382D	AZI2_uc003cec.3_Silent_p.D270D	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	382						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GATTATGTTGATCCAAGTAAT	0.388000														86			33		0	0	0.000692331	0	0
COQ4	51117	broad.mit.edu	37	9	131088142	131088142	+	Silent	SNP	C	T	T	rs111535641		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:131088142C>T	uc004bur.4	+	3	731	c.384C>T	c.(382-384)ctC>ctT	p.L128L	COQ4_uc011max.1_Silent_p.L128L|COQ4_uc010mxy.3_Silent_p.L104L	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	128					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GCGAGTATCTCCGTTTCCTGG	0.572000														33			4		0	0	0.000602214	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735475	55735475	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr11:55735475G>A	uc010rit.2	-	0	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGGGCAAAAGGAAAATTTGGC	0.388000														17			22		0	0	0.000295444	0	0
OR4M2	390538	broad.mit.edu	37	15	22369163	22369163	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:22369163G>A	uc010tzu.2	+	0	686	c.588G>A	c.(586-588)gaG>gaA	p.E196E	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	196					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)		TCCCAGAGGAGTTAGTGATGA	0.463000														308			69		0	0	0.000781405	0	0
MTMR12	54545	broad.mit.edu	37	5	32263339	32263339	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:32263339G>A	uc003jhq.3	-	6	763	c.593C>T	c.(592-594)cCc>cTc	p.P198L	MTMR12_uc010iuk.3_Missense_Mutation_p.P198L|MTMR12_uc010iul.3_Missense_Mutation_p.P198L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	198						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGTTCTTGGGATCAGTGAC	0.403000														40			23		0	0	0.000375601	0	0
GP1BA	2811	broad.mit.edu	37	17	4836484	4836484	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:4836484C>T	uc021tnz.1	+	1	660	c.585C>T	c.(583-585)ctC>ctT	p.L195L	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Silent_p.L195L	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	195										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CCCTTCTCCTCCAAGAGAACT	0.532000														35			11		0	0	0.00185496	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239865	114239865	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:114239865C>T	uc004epx.3	-	8	1136	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	IL13RA2_uc010nqd.1_Silent_p.S337S	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	337						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.S337S(4)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAGTTTTCTTCGATAGGTCTT	0.353000														49			12		0	0	0.00185496	0	0
SYT16	83851	broad.mit.edu	37	14	62542093	62542093	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:62542093C>T	uc001xfu.1	+	2	1174	c.977C>T	c.(976-978)tCc>tTc	p.S326F	SYT16_uc010tsd.1_Missense_Mutation_p.S326F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	326										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GACAGCTCCTCCATGTGGAGT	0.473000														80			15		0	0	0.000422831	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886211	24886211	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:24886211C>T	uc001wpf.4	+	8	5574	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1752	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCCTCCTCCACTGATGCCA	0.597000														28			4		0	0	0.00116845	0	0
ZNF470	388566	broad.mit.edu	37	19	57088659	57088659	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:57088659G>A	uc002qnl.4	+	5	1538	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAATGTACTGAATGTGGGAA	0.418000														62			17		0	0	0.00152264	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797857	100797857	+	Silent	SNP	C	T	T	rs112540425		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:100797857C>T	uc010svi.2	+	8	1408	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	SLC17A8_uc009ztx.3_Silent_p.I315I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	365					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTATGACAATCGTTGTACCTA	0.433000														47			17		0	0	0.000958276	0	0
KIAA2026	158358	broad.mit.edu	37	9	5969206	5969206	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:5969206G>A	uc003zjq.4	-	2	1241	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	342										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CATTATTTTCGATAGAAAAGC	0.418000														19			13		0	0	0.00185496	0	0
CFH	3075	broad.mit.edu	37	1	196714956	196714956	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:196714956G>A	uc001gtj.4	+	20	3560	c.3320G>A	c.(3319-3321)gGa>gAa	p.G1107E	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATTCTACAGGAAAATGTGGG	0.398000														58			62		0	0	0.000781405	0	0
COL4A6	1288	broad.mit.edu	37	X	107464486	107464486	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:107464486C>T	uc004enw.4	-	3	369	c.266G>A	c.(265-267)gGa>gAa	p.G89E	COL4A6_uc004env.4_Missense_Mutation_p.G88E|COL4A6_uc011msn.2_Missense_Mutation_p.G88E|COL4A6_uc010npk.3_Missense_Mutation_p.G88E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	89	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTTTGGTCCATAAGGTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis					106			22		0	0	0.000375601	0	0
MSL3	10943	broad.mit.edu	37	X	11782035	11782035	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:11782035G>A	uc004cuw.3	+	7	991	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	MSL3_uc004cuv.1_Missense_Mutation_p.E296K|MSL3_uc011mig.2_Missense_Mutation_p.E147K|MSL3_uc011mih.2_Missense_Mutation_p.E284K|MSL3_uc004cuy.3_Missense_Mutation_p.E130K|MSL3_uc011mii.2_Missense_Mutation_p.E130K	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	296					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCCAATTAAGGAAAGTGCCAC	0.373000														79			14		0	0	0.000308642	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450758	21450758	+	Missense_Mutation	SNP	A	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:21450758A>T	uc004czx.2	+	2	737	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNKSR2_uc004czw.3_Missense_Mutation_p.K86I|CNKSR2_uc011mjn.2_Missense_Mutation_p.K86I|CNKSR2_uc011mjo.2_Missense_Mutation_p.K86I	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	86	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAATCTAAAAACCCTTTCT	0.328000														112			27		0	0	0.001512	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				63			97		0	0	0.000781405	0	0
DNAH3	55567	broad.mit.edu	37	16	21049241	21049241	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:21049241G>A	uc010vbe.2	-	33	4792	c.4792C>T	c.(4792-4794)Cac>Tac	p.H1598Y		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1598	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGTCATAGTGATGCTGAGAG	0.542000														21			5		0	0	0.00116845	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679276	150679276	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:150679276G>A	uc001evk.2	-	9	675	c.557C>T	c.(556-558)cCa>cTa	p.P186L	HORMAD1_uc001evl.2_Missense_Mutation_p.P179L|HORMAD1_uc001evm.2_Missense_Mutation_p.P106L	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	186	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGTAATCTGGGGGTGTAAC	0.353000														22			38		0	0	0.00170553	0	0
PAK3	5063	broad.mit.edu	37	X	110439801	110439801	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:110439801C>T	uc010npv.1	+	13	1475	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	PAK3_uc010npt.1_Missense_Mutation_p.S447F|PAK3_uc010npu.1_Missense_Mutation_p.S447F|PAK3_uc004eoy.1_Missense_Mutation_p.S202F|PAK3_uc004eoz.2_Missense_Mutation_p.S447F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.S468F|PAK3_uc004epa.2_Missense_Mutation_p.S462F	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	462	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATATCTGGTCTCTTGGAATT	0.448000										TSP Lung(19;0.15)				83			9		0	0	0.000978159	0	0
MYLK	4638	broad.mit.edu	37	3	123419455	123419455	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:123419455G>A	uc003ego.3	-	17	3142	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	MYLK_uc011bjw.2_Missense_Mutation_p.R954C|MYLK_uc003egp.3_Missense_Mutation_p.R885C|MYLK_uc003egq.3_Missense_Mutation_p.R954C|MYLK_uc003egr.3_Missense_Mutation_p.R885C|MYLK_uc003egs.3_Missense_Mutation_p.R778C|MYLK_uc003egt.3_Missense_Mutation_p.R145C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	954	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGACAGAGCGAAAATCGACC	0.597000														34			18		0	0	0.00074312	0	0
CAGE1	285782	broad.mit.edu	37	6	7374052	7374052	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:7374052C>T	uc003mxl.2	-	4	1531	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E198K|CAGE1_uc003mxj.3_Missense_Mutation_p.E89K|CAGE1_uc003mxk.2_Missense_Mutation_p.E334K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	334										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACCCTCTTCTCTAAATACAGG	0.353000														29			15		0	0	0.000566183	0	0
DLST	1743	broad.mit.edu	37	14	75367876	75367876	+	Silent	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:75367876T>C	uc001xqv.2	+	13	1230	c.1167T>C	c.(1165-1167)ccT>ccC	p.P389P	DLST_uc001xqu.2_Silent_p.P301P|DLST_uc001xqs.3_Silent_p.P206P|DLST_uc001xqt.2_Silent_p.P305P|DLST_uc010tuw.1_Silent_p.P303P	NM_001933	NP_001924	P36957	ODO2_HUMAN	Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) (DLST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCAACCCCCCTCAGTCTGCCA	0.512000														51			19		0	0	0.00152264	0	0
ACBD5	91452	broad.mit.edu	37	10	27499797	27499797	+	Missense_Mutation	SNP	G	A	A	rs149955149		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:27499797G>A	uc001itr.1	-	8	1237	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	ACBD5_uc010qdm.2_Missense_Mutation_p.R382W|ACBD5_uc010qdn.2_Missense_Mutation_p.R275W|ACBD5_uc010qdo.2_Missense_Mutation_p.R207W|ACBD5_uc010qdp.2_Missense_Mutation_p.R384W|ACBD5_uc001ito.3_Missense_Mutation_p.R349W|ACBD5_uc001itp.3_Missense_Mutation_p.R275W|ACBD5_uc001itq.3_Missense_Mutation_p.R275W			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	393					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCTTCTCCCGGTGTGGTGCT	0.453000														51			34		0	0	0.00058488	0	0
CRELD1	78987	broad.mit.edu	37	3	9982599	9982600	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:9982599_9982600GG>AA	uc003buf.3	+	5	625_626	c.526_527GG>AA	c.(526-528)ggg>AAg	p.G176K	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G176K|CRELD1_uc003bug.3_Missense_Mutation_p.G176K	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	176	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGGGACACGAGGGGGCAGCGGG	0.634000														34			29		0	0	6.4e-05	0	0
TTC16	158248	broad.mit.edu	37	9	130493449	130493449	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:130493449G>A	uc004brq.1	+	13	2454	c.2387G>A	c.(2386-2388)aGg>aAg	p.R796K	TTC16_uc011mai.1_Missense_Mutation_p.R783K|TTC16_uc004brr.1_3'UTR|TTC16_uc010mxn.1_Missense_Mutation_p.R392K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	796							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCCGAAGCAGGGGACTGCTC	0.607000														4			8		0	0	0.000274275	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689091	27689091	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:27689091G>A	uc002dow.3	+	6	606	c.582G>A	c.(580-582)agG>agA	p.R194R	KIAA0556_uc002dox.1_Silent_p.R102R	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	194										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						ATCTACAAAGGAAACAAAAGG	0.453000														27			17		0	0	0.000566183	0	0
BCOR	54880	broad.mit.edu	37	X	39932638	39932638	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:39932638G>A	uc004den.4	-	3	2253	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	BCOR_uc004dep.4_Missense_Mutation_p.P654L|BCOR_uc004deo.4_Missense_Mutation_p.P654L|BCOR_uc004dem.4_Missense_Mutation_p.P654L|BCOR_uc004deq.4_Missense_Mutation_p.P654L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	654	Pro-rich.				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						GTAACTCCTGGGGTAGGGAAT	0.522000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							22			7		0	0	8.12818e-05	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841397	8841397	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:8841397G>A	uc010xkg.2	+	0	7	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACATGGGGGATGTGAATCA	0.498000														29			11		0	0	0.000978159	0	0
FLG	2312	broad.mit.edu	37	1	152285831	152285831	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:152285831C>T	uc001ezu.1	-	2	1567	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	511	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)			TCCTGACCCTCTTGGGACGCT	0.607000									Ichthyosis					146			206		0	0	0.000781405	0	0
PRRG1	5638	broad.mit.edu	37	X	37312691	37312691	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:37312691C>T	uc004ddn.3	+	4	727	c.474C>T	c.(472-474)tcC>tcT	p.S158S	PRRG1_uc004ddo.3_Silent_p.S158S|PRRG1_uc022buu.1_Silent_p.S158S|PRRG1_uc022buv.1_Silent_p.S158S	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	158						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTCAGATTCCGTCTCTACTC	0.517000														56			10		0	0	0.000978159	0	0
GPBP1	65056	broad.mit.edu	37	5	56527096	56527096	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:56527096C>T	uc003jrk.4	+	3	437	c.380C>T	c.(379-381)aCc>aTc	p.T127I	GPBP1_uc003jrh.4_Missense_Mutation_p.T120I|GPBP1_uc003jri.4_5'UTR|GPBP1_uc003jrj.4_Missense_Mutation_p.T127I|GPBP1_uc021xyv.1_5'UTR	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	120				R -> G (in Ref. 6; AAH70132).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GACAATGAAACCGGGAGGAAA	0.398000														10			8		0	0	0.000442599	0	0
PCSK5	5125	broad.mit.edu	37	9	78973505	78973505	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:78973505C>T	uc004akc.2	+	36	5788	c.5250C>T	c.(5248-5250)tcC>tcT	p.S1750S		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCACCTCCTCCATGATGCTGG	0.532000														13			26		0	0	0.000720815	0	0
GPR22	2845	broad.mit.edu	37	7	107114811	107114812	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:107114811_107114812CC>AT	uc003vef.3	+	2	1652_1653	c.306_307CC>AT	c.(304-309)atcctt>atATtt	p.L103F	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.L103F	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	103						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CTATAGTTATCCTTCTGCTTTC	0.356000														102			35		0	0	6.4e-05	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														43			6		0	0	0.000442599	0	0
BRD4	23476	broad.mit.edu	37	19	15366921	15366921	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:15366921G>A	uc002nar.3	-	8	1927	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	BRD4_uc002nas.3_Missense_Mutation_p.P569S|BRD4_uc002nat.3_Missense_Mutation_p.P569S|BRD4_uc002nau.4_Missense_Mutation_p.P569S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	569	Lys-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)			tttttaggaggaggttccttg	0.428000			T	C15orf55	lethal midline carcinoma of young people									17			9		0	0	0.000274275	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:106814337C>T	uc003ymd.3	+	7	2050	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	ZFPM2_uc011lhs.2_Missense_Mutation_p.P407L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGTGTCCCCTTAGTGGAT	0.428000														28			7		0	0	8.12818e-05	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320136	79320136	+	Missense_Mutation	SNP	A	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:79320136A>T	uc002beq.3	-	8	1703	c.1328T>A	c.(1327-1329)aTc>aAc	p.I443N	RASGRF1_uc002bep.3_Missense_Mutation_p.I443N|RASGRF1_uc010blm.1_Missense_Mutation_p.I365N|RASGRF1_uc002ber.4_Missense_Mutation_p.I443N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	443					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCTTCGATGATCATGCGCTC	0.567000														83			37		0	0	0.000509022	0	0
MYH2	4620	broad.mit.edu	37	17	10436610	10436610	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:10436610C>T	uc010coi.3	-	20	2561	c.2433G>A	c.(2431-2433)gtG>gtA	p.V811V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V811V|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	811	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTCTCTCCACCATCCTCT	0.433000														56			6		0	0	0.00116845	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21548918	21548918	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:21548918C>T	uc001vzp.3	+	11	2502	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	ARHGEF40_uc001vzo.1_5'UTR|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.R111C	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	825					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCTGCGATTCCGTGCTTTCAG	0.637000														30			12		0	0	0.000308642	0	0
C12orf63	374467	broad.mit.edu	37	12	97137828	97137828	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:97137828C>T	uc021rcc.1	+	21	2941	c.2863C>T	c.(2863-2865)Cgt>Tgt	p.R955C				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	955										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATTGAATTTCGTTCATCAAA	0.308000														30			11		0	0	0.000978159	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870325	47870325	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:47870325G>A	uc002xui.3	-	10	3230	c.2983C>T	c.(2983-2985)Cta>Tta	p.L995L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	995							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCTTCTGTAGGATCTGGCGG	0.552000														134			99		0	0	0.000781405	0	0
RNF2	6045	broad.mit.edu	37	1	185062287	185062287	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:185062287C>T	uc001grc.1	+	3	576	c.343C>T	c.(343-345)Cca>Tca	p.P115S	RNF2_uc001grd.1_Intron	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	115	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CAAAATTTATCCAAGTCGTGA	0.408000														18			35		0	0	0.000491102	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766703	27766703	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:27766703G>A	uc011mjy.2	+	0	1778	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAGTGGGAACGAGATGAAGAC	0.507000														14			8		0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763310	140763310	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:140763310C>T	uc003lka.2	+	0	844	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R282W	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	282	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATTCTTTTCGGAAAATAAC	0.423000														28			14		0	0	0.000219431	0	0
LPPR1	54886	broad.mit.edu	37	9	104079650	104079650	+	Missense_Mutation	SNP	A	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:104079650A>G	uc004bbb.3	+	6	1216	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	LPPR1_uc011lvi.2_Missense_Mutation_p.M249V|LPPR1_uc004bbc.3_Missense_Mutation_p.M273V|LPPR1_uc010mtc.3_Missense_Mutation_p.M257V	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	273						integral to membrane	catalytic activity										CCTGCAGGGAATGTGTGTGGT	0.512000														135			54		0	0	0.000781405	0	0
CD99L2	83692	broad.mit.edu	37	X	149938784	149938784	+	Silent	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:149938784T>C	uc004fek.3	-	10	972	c.744A>G	c.(742-744)gaA>gaG	p.E248E	CD99L2_uc011myb.2_Silent_p.E165E|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Silent_p.E238E|CD99L2_uc004fem.3_Silent_p.E189E|CD99L2_uc004fen.3_Silent_p.E166E	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	238					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTTGGGGTTCCTCACATA	0.537000														40			8		0	0	0.000673444	0	0
F2R	2149	broad.mit.edu	37	5	76028770	76028771	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:76028770_76028771GG>AA	uc003ken.4	+	1	985_986	c.720_721GG>AA	c.(718-723)aaggag>aaAAag	p.E241K		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	241					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TGCTCCTCAAGGAGCAAACCAT	0.559000														36			18		0	0	6.4e-05	0	0
OSR1	130497	broad.mit.edu	37	2	19552099	19552099	+	Silent	SNP	G	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:19552099G>C	uc002rdc.3	-	2	1041	c.738C>G	c.(736-738)ctC>ctG	p.L246L		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	246					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGTGGACAGCGAGAGTCCTGG	0.498000														64			4		0	0	0.00024832	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:56373427G>A	uc002qmd.4	+	4	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_uc002qmf.3_Silent_p.L621L|NLRP4_uc010etf.3_Silent_p.L527L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	696							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)		AGCCAGACTTGAAATACCTGA	0.443000														67			35		0	0	0.000953801	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905571	144905571	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:144905571G>A	uc022cfn.1	+	0	1628	c.1628G>A	c.(1627-1629)tGg>tAg	p.W543*	SLITRK2_uc004fcd.3_Nonsense_Mutation_p.W543*|SLITRK2_uc010nsp.3_Nonsense_Mutation_p.W543*|SLITRK2_uc010nso.3_Nonsense_Mutation_p.W543*|SLITRK2_uc011mwq.2_Nonsense_Mutation_p.W543*|SLITRK2_uc011mwr.2_Nonsense_Mutation_p.W543*|SLITRK2_uc011mws.2_Nonsense_Mutation_p.W543*|SLITRK2_uc004fcg.3_Nonsense_Mutation_p.W543*|SLITRK2_uc011mwt.2_Nonsense_Mutation_p.W543*	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	543	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAAGACTGGACAGAACAT	0.517000														58			12		0	0	0.00185496	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103520502	103520502	+	Missense_Mutation	SNP	T	C	C	rs121434575		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:103520502T>C	uc001vpu.2	+	19	4057	c.3935T>C	c.(3934-3936)cTt>cCt	p.L1312P	BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.L858P|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.L690P	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1283					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GCTTATTTGCTTGGAAGTGAT	0.343000														100			10		0	0	0.000673444	0	0
RYR3	6263	broad.mit.edu	37	15	34140564	34140564	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:34140564G>A	uc001zhi.3	+	93	13640	c.13570G>A	c.(13570-13572)Gaa>Aaa	p.E4524K	RYR3_uc010bar.3_Missense_Mutation_p.E4519K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4524					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E4523K(2)		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)		ATATATCACCGAACAGCCATC	0.498000														77			9		0	0	0.000442599	0	0
KRT15	3866	broad.mit.edu	37	17	39674668	39674668	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:39674668G>A	uc002hwy.3	-	0	603	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_5'UTR	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	138	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TACCAGTCATGGATCTTCACC	0.542000														116			12		0	0	0.00185496	0	0
RBBP8	5932	broad.mit.edu	37	18	20573768	20573769	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr18:20573768_20573769CC>TT	uc002kua.3	+	11	2020_2021	c.1897_1898CC>TT	c.(1897-1899)cca>TTa	p.P633L	RBBP8_uc002ktw.3_Missense_Mutation_p.P633L|RBBP8_uc002kty.3_Missense_Mutation_p.P633L|RBBP8_uc002ktz.3_Missense_Mutation_p.P633L|RBBP8_uc010xap.2_5'Flank	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	633					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCAGTTAAATCCATGTAGAACT	0.356000								Homologous recombination						23			15		0	0	6.4e-05	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143586	48143586	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:48143586C>T	uc001rpz.4	-	8	1382	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.D236N|RAPGEF3_uc009zkq.3_Missense_Mutation_p.D236N|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.D290N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.D278N	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	236					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTGCCCTTGTCCCCCTGGCTG	0.602000														61			27		0	0	0.000720815	0	0
CLCN1	1180	broad.mit.edu	37	7	143029880	143029880	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:143029880G>A	uc003wcr.1	+	11	1402	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	439					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACACGCGGGTGATCCTGAGAG	0.527000														72			21		0	0	0.000295444	0	0
EBF2	64641	broad.mit.edu	37	8	25715842	25715842	+	Silent	SNP	A	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:25715842A>G	uc003xes.2	-	13	1786	c.1521T>C	c.(1519-1521)ccT>ccC	p.P507P	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	507	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TACTTCCATAAGGAGAGCCGG	0.473000														57			14		0	0	0.000566183	0	0
LRP1	4035	broad.mit.edu	37	12	57588387	57588387	+	Missense_Mutation	SNP	A	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:57588387A>C	uc001snd.3	+	49	8562	c.8096A>C	c.(8095-8097)aAt>aCt	p.N2699T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2699	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCCTCTGAATTACTTCGCC	0.642000														34			13		0	0	0.000308642	0	0
C15orf55	256646	broad.mit.edu	37	15	34648262	34648262	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:34648262G>A	uc010ucc.2	+	7	2435	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R	C15orf55_uc010ucd.2_Missense_Mutation_p.G675R|C15orf55_uc001zif.3_Missense_Mutation_p.G657R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	657						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCAAGTCCTGGGATTGCAGAA	0.567000			T	"""BRD3, BRD4"""	lethal midline carcinoma									38			9		0	0	0.000442599	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545152	196545152	+	Missense_Mutation	SNP	A	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:196545152A>T	uc002utg.4	+	1	600	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	SLC39A10_uc002uth.4_Missense_Mutation_p.Q129L|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	129	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.Q129R(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CATAACCACCAGCATTCCCAT	0.368000														48			19		0	0	0.00121646	0	0
GRIP1	23426	broad.mit.edu	37	12	66935661	66935661	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:66935661G>A	uc001stk.3	-	2	447	c.206C>T	c.(205-207)tCg>tTg	p.S69L	GRIP1_uc010sta.1_Missense_Mutation_p.S13L|GRIP1_uc001stm.3_Missense_Mutation_p.S69L|GRIP1_uc001stl.1_Missense_Mutation_p.S13L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	69	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATTCCTCCCGATACCGTCAG	0.463000														205			36		0	0	0.00128727	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000														62			21		0	0	0.000375601	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434077	69434077	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:69434077G>A	uc021xov.1	-	0	169	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	42					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCTCTTCCAGGATTGTCTTCA	0.433000														78			125		0	0	0.000781405	0	0
OPN4	94233	broad.mit.edu	37	10	88419746	88419746	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:88419746C>T	uc010qmk.1	+	6	1155	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	OPN4_uc001kdp.3_Silent_p.L310L|OPN4_uc001kdq.3_Silent_p.L299L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	299					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAAGATCATGCTGCTGGTCAT	0.622000														22			12		0	0	0.000219431	0	0
CDKL1	8814	broad.mit.edu	37	14	50877280	50877280	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:50877280G>A	uc010anu.2	-	1	123	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					tctggttggaggagtctgcac	0.507000														64			14		0	0	0.000308642	0	0
LINC00478	388815	broad.mit.edu	37	21	17443631	17443631	+	RNA	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr21:17443631C>T	uc002ykb.2	+	1		c.225C>T			LINC00478_uc010glc.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 478 (LINC00478), transcript variant 1, non-coding RNA.																		CAACCGCTGCCCGAGCAGGCA	0.522000														45			4		0	0	0.00024832	0	0
CNN1	1264	broad.mit.edu	37	19	11658678	11658678	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:11658678G>A	uc002msc.1	+	4	621	c.457G>A	c.(457-459)Gag>Aag	p.E153K	CNN1_uc010xmb.1_Missense_Mutation_p.E103K|CNN1_uc010xmc.1_Missense_Mutation_p.E103K	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	153					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCGGAAATTCGAGCCGGGGAA	0.587000														36			12		0	0	0.00136819	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675372	31675372	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:31675372C>A	uc003nwb.1	+	1	190	c.190C>A	c.(190-192)Caa>Aaa	p.Q64K	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.Q64K	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	64	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCTGGTAGCCCAAGTCCAAGT	0.577000														213			8		0.000274275	0.00148129	0.000274275	1	0
POLG2	11232	broad.mit.edu	37	17	62487002	62487002	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:62487002G>A	uc002jei.3	-	3	978	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	POLG2_uc021ubq.1_Missense_Mutation_p.P27S|POLG2_uc010deg.2_Missense_Mutation_p.P294S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	294					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.P294S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTTCCCCAGGGAAAATTGTAG	0.398000														53			5		0	0	0.00116845	0	0
BFSP1	631	broad.mit.edu	37	20	17475568	17475568	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:17475568G>A	uc002wpo.3	-	7	1188	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	BFSP1_uc002wpp.3_Silent_p.N258N|BFSP1_uc010zrn.2_Silent_p.N244N|BFSP1_uc010zro.2_Silent_p.N244N	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	383	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CCAGAGCTCCGTTGGTTTTGT	0.408000														90			54		0	0	0.000781405	0	0
KIF20A	10112	broad.mit.edu	37	5	137522981	137522981	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:137522981G>A	uc003lcj.3	+	18	3048	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	KIF20A_uc011cyo.2_Missense_Mutation_p.R833Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	851	Globular (Potential).				M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCATTCCTTCGAAATTTACTT	0.507000														26			4		0	0	0.000602214	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316976	72316976	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:72316976G>A	uc010iic.3	+	10	1397	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	SLC4A4_uc003hfy.3_Missense_Mutation_p.G427E|SLC4A4_uc010iib.3_Missense_Mutation_p.G427E|SLC4A4_uc003hfz.3_Missense_Mutation_p.G427E|SLC4A4_uc003hgc.4_Missense_Mutation_p.G383E|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G305E|SLC4A4_uc003hgb.3_Missense_Mutation_p.G383E	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	427						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S427L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGTCACGGAGGAGGAGGACAT	0.458000														86			10		0	0	0.00136819	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101318	80101318	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:80101318C>T	uc010ysh.2	+	4	707	c.702C>T	c.(700-702)gcC>gcT	p.A234A	CTNNA2_uc010yse.2_Silent_p.A234A|CTNNA2_uc010ysf.2_Silent_p.A234A|CTNNA2_uc010ysg.2_Silent_p.A234A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	234					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.V233I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGATGTCGCCGCTACGAGAG	0.577000														22			8		0	0	0.000978159	0	0
AK302694	0	broad.mit.edu	37	10	31001513	31001513	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:31001513C>T	uc010qdx.1	+	8	1497	c.955C>T	c.(955-957)Caa>Taa	p.Q319*						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		AGCCAGTCCCCAAGTCTTACC	0.463000														23			12		0	0	0.00136819	0	0
ABHD12	26090	broad.mit.edu	37	20	25303973	25303973	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:25303973G>A	uc002wuq.3	-	2	689	c.410C>T	c.(409-411)aCc>aTc	p.T137I	ABHD12_uc002wus.2_Missense_Mutation_p.T137I	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	137						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GACTCCAATGGTCACGTCTTC	0.498000														60			37		0	0	0.00148497	0	0
KRT23	25984	broad.mit.edu	37	17	39092676	39092676	+	Silent	SNP	A	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:39092676A>G	uc002hvm.1	-	1	769	c.180T>C	c.(178-180)ggT>ggC	p.G60G	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Silent_p.G60G|KRT23_uc002hvn.1_Silent_p.G60G	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	60	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTCTTCCAGAACCCCAAGACC	0.667000														41			29		0	0	0.00178596	0	0
DENND4A	10260	broad.mit.edu	37	15	65988718	65988718	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:65988718G>A	uc002api.3	-	21	3450	c.3065C>T	c.(3064-3066)tCa>tTa	p.S1022L	DENND4A_uc002aph.3_Missense_Mutation_p.S979L|DENND4A_uc002apj.3_Missense_Mutation_p.S979L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCTTTCTCCTGATATTTTACC	0.358000														51			28		0	0	0.00178596	0	0
MAP4	4134	broad.mit.edu	37	3	47957837	47957837	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:47957837G>A	uc003csb.2	-	6	2006	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	MAP4_uc003csc.3_Missense_Mutation_p.P494S|MAP4_uc011bbf.1_Missense_Mutation_p.P471S|MAP4_uc003csf.3_Missense_Mutation_p.P511S	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	494	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ACTGTGGACGGAGCCACATCC	0.507000														113			56		0	0	0.000781405	0	0
ZCRB1	85437	broad.mit.edu	37	12	42707759	42707759	+	Silent	SNP	C	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:42707759C>G	uc001rmz.3	-	5	572	c.363G>C	c.(361-363)ccG>ccC	p.P121P		NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	Homo sapiens zinc finger CCHC-type and RNA binding motif 1 (ZCRB1), mRNA.	121					mRNA processing	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GCATATTTTTCGGACAGGCAT	0.328000														40			11		0	0	0.000422831	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200805	8200805	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:8200805C>T	uc001qtu.3	+	6	2230	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	FOXJ2_uc001qtt.1_Missense_Mutation_p.P382L	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	382					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CAGCACCATCCCCACTCCCAC	0.627000														13			6		0	0	0.00116845	0	0
FREM1	158326	broad.mit.edu	37	9	14819293	14819293	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:14819293C>T	uc003zlm.3	-	14	3301	c.2485G>A	c.(2485-2487)Gga>Aga	p.G829R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	829					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAGGAAATCCATTCAGCTCC	0.433000														16			15		0	0	0.000422831	0	0
SPP1	6696	broad.mit.edu	37	4	88902728	88902728	+	Silent	SNP	C	T	T	rs150169219		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:88902728C>T	uc003hra.3	+	5	483	c.318C>T	c.(316-318)aaC>aaT	p.N106N	SPP1_uc011cde.2_Silent_p.N119N|SPP1_uc003hrb.3_Silent_p.N79N|SPP1_uc003hrc.3_Silent_p.N92N|SPP1_uc003hrd.3_Silent_p.N65N	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	106					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TTGACTCGAACGACTCTGATG	0.463000														181			25		0	0	0.000586117	0	0
SDK2	54549	broad.mit.edu	37	17	71357873	71357873	+	Missense_Mutation	SNP	A	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:71357873A>C	uc010dfm.3	-	38	5417	c.5417T>G	c.(5416-5418)tTc>tGc	p.F1806C	SDK2_uc002jjt.4_Missense_Mutation_p.F946C|SDK2_uc010dfn.2_Missense_Mutation_p.F1485C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1806	Fibronectin type-III 12.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCCGTAGGTGAAGGTCTTGGC	0.632000														17			14		0	0	0.000308642	0	0
OLFM1	10439	broad.mit.edu	37	9	137990199	137990199	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:137990199C>T	uc010nar.3	+	3	543	c.524C>T	c.(523-525)gCc>gTc	p.A175V	OLFM1_uc004cfl.4_Missense_Mutation_p.A157V	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	175					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AAGGCCGATGCCAAATTGGTA	0.448000														30			43		0	0	0.000680045	0	0
CSMD1	64478	broad.mit.edu	37	8	3224606	3224606	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:3224606C>T	uc022aqr.1	-	19	3453	c.3063G>A	c.(3061-3063)cgG>cgA	p.R1021R	CSMD1_uc011kwj.2_Silent_p.R414R|CSMD1_uc003wqe.3_Silent_p.R178R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1022	CUB 6.					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)		CTGATATAAACCGAAGCTGGG	0.488000														25			5		0	0	8.12818e-05	0	0
PTPRK	5796	broad.mit.edu	37	6	128403707	128403707	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:128403707C>T	uc003qbk.3	-	9	2019	c.1652G>A	c.(1651-1653)tGg>tAg	p.W551*	PTPRK_uc010kfc.3_Nonsense_Mutation_p.W551*|PTPRK_uc003qbj.3_Nonsense_Mutation_p.W551*|PTPRK_uc011ebu.2_Nonsense_Mutation_p.W551*|PTPRK_uc003qbl.1_Nonsense_Mutation_p.W421*|PTPRK_uc011ebv.1_Nonsense_Mutation_p.W551*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	551	Fibronectin type-III 3.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTACTGTTCCATAAATTTGA	0.438000														37			10		0	0	0.00136819	0	0
LAMA2	3908	broad.mit.edu	37	6	129609139	129609140	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:129609139_129609140CC>TT	uc021zfb.1	+	18	2790_2791	c.2685_2686CC>TT	c.(2683-2688)ggccgg>ggTTgg	p.R896W	LAMA2_uc003qbn.3_Missense_Mutation_p.R896W|LAMA2_uc003qbo.3_Missense_Mutation_p.R896W	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	896	Laminin EGF-like 8.				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)		GTACAACAGGCCGGTACTGTGA	0.490000														88			20		0	0	6.4e-05	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826330	34826330	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:34826330C>T	uc003oju.4	+	13	2431	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	733										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCTACCCCTCCGCTGGCAGCA	0.552000														20			6		0	0	8.12818e-05	0	0
CHAF1B	8208	broad.mit.edu	37	21	37771827	37771827	+	Missense_Mutation	SNP	G	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr21:37771827G>T	uc002yvj.3	+	6	725	c.587G>T	c.(586-588)cGa>cTa	p.R196L		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	196					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						AGGGTGCTGCGAGTATACAGT	0.398000														84			5		0.00116845	0.00624162	0.00116845	1	0
SERINC3	10955	broad.mit.edu	37	20	43141631	43141631	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:43141631G>A	uc002xme.3	-	2	340	c.206C>T	c.(205-207)cCt>cTt	p.P69L	SERINC3_uc002xmf.1_Missense_Mutation_p.P69L|SERINC3_uc010ggs.1_Missense_Mutation_p.P62L|SERINC3_uc010zwp.1_Missense_Mutation_p.P14L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	69						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAAAATCCAGGAATCTGGAA	0.373000														52			6		0	0	0.00116845	0	0
OR6C6	283365	broad.mit.edu	37	12	55688288	55688288	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:55688288C>T	uc010sph.2	-	0	729	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368000														42			18		0	0	0.000566183	0	0
CDCA2	157313	broad.mit.edu	37	8	25364680	25364680	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:25364680C>T	uc003xep.1	+	14	2975	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S818F|CDCA2_uc003xer.1_Missense_Mutation_p.S496F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	833					cell division|mitosis	cytoplasm|nucleus		p.R832C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAAGACGTTCCATGTGTTAT	0.393000														29			13		0	0	0.00185496	0	0
ELN	2006	broad.mit.edu	37	7	73449699	73449699	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:73449699C>T	uc003tzw.3	+	1	179	c.88C>T	c.(88-90)Cct>Tct	p.P30S	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.P30S|ELN_uc003tzy.3_Missense_Mutation_p.P30S|ELN_uc003tzz.3_Missense_Mutation_p.P30S|ELN_uc003tzo.3_Missense_Mutation_p.P30S|ELN_uc003tzp.3_Missense_Mutation_p.P30S|ELN_uc003tzq.3_Missense_Mutation_p.P30S|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P30S|ELN_uc003tzt.3_Missense_Mutation_p.P30S|ELN_uc003tzu.3_Missense_Mutation_p.P30S|ELN_uc003tzv.3_Missense_Mutation_p.P30S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P30S|ELN_uc011kff.2_Missense_Mutation_p.P30S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	30					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTCAGGGGTCCCTGGGGCCAT	0.493000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							45			22		0	0	0.000586117	0	0
NLRC5	84166	broad.mit.edu	37	16	57059751	57059751	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:57059751C>T	uc021tiu.1	+	4	1023	c.896C>T	c.(895-897)gCt>gTt	p.A299V	NLRC5_uc021tit.1_Missense_Mutation_p.A299V|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A104V|NLRC5_uc021tiw.1_Missense_Mutation_p.A104V|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	299	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 MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|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|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.N298N(1)		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)				GAGAAGAACGCTGACCAAGTC	0.557000														78			28		0	0	0.000878237	0	0
COL4A6	1288	broad.mit.edu	37	X	107457458	107457458	+	Splice_Site	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:107457458C>T	uc004enw.4	-	6	431	c.328_splice	c.e6-1	p.G110_splice	COL4A6_uc004env.4_Splice_Site_p.G109_splice|COL4A6_uc011msn.2_Splice_Site_p.G109_splice|COL4A6_uc010npk.3_Splice_Site_p.G109_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	110	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGGTGGCCCTGTTCAAAG	0.517000									Alport syndrome with Diffuse Leiomyomatosis					77			14		0	0	0.00074312	0	0
STAG3	10734	broad.mit.edu	37	7	99802628	99802628	+	Splice_Site	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:99802628G>A	uc003utx.1	+	28	3107	c.2952_splice	c.e28-1	p.K984_splice	STAG3_uc011kjk.1_Splice_Site_p.K926_splice|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Splice_Site_p.K208_splice	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	984					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAACCAAGGGAAGGCATCC	0.547000														91			38		0	0	0.00111076	0	0
TTN	7273	broad.mit.edu	37	2	179635322	179635323	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179635322_179635323GG>AA	uc021vsy.1	-	34	8421_8422	c.8196_8197CC>TT	c.(8194-8199)caccct>caTTct	p.P2733S	TTN_uc021vsz.1_Missense_Mutation_p.P2687S|TTN_uc021vta.1_Missense_Mutation_p.P2687S|TTN_uc021vtb.1_Missense_Mutation_p.P2687S|TTN_uc002unb.2_Missense_Mutation_p.P2733S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2733							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)			TTGACATTAGGGTGTGTAAGCT	0.391000														63			26		0	0	6.4e-05	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195441	80195441	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:80195441C>T	uc002kea.3	+	3	945	c.795C>T	c.(793-795)ttC>ttT	p.F265F	SLC16A3_uc021ufm.1_Silent_p.F265F|SLC16A3_uc002keb.3_Silent_p.F265F|SLC16A3_uc002kec.3_Silent_p.F265F|SLC16A3_uc002ked.3_Silent_p.F265F|SLC16A3_uc021ufn.1_Silent_p.F265F|SLC16A3_uc021ufo.1_Silent_p.F265F	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	265					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)	AGGCCGCCTTCCTGCTCACCA	0.682000														39			7		0	0	0.000274275	0	0
abParts	0	broad.mit.edu	37	14	107099220	107099220	+	RNA	SNP	A	T	T	rs148129115	by1000genomes	TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:107099220A>T	uc021ser.1	-	109		c.4854T>A								Parts of antibodies, mostly variable regions.																		GTCTCTGGAGATGGTGAATCG	0.498000														39			5		0	0	0.000602214	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261120	21261120	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:21261120C>T	uc010bwp.1	+	1	276	c.233C>T	c.(232-234)gCc>gTc	p.A78V	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	78										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AATGGCCATGCCCACTGCGTC	0.493000														60			8		0	0	0.000157383	0	0
DMXL2	23312	broad.mit.edu	37	15	51792048	51792048	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:51792048G>A	uc010ufy.2	-	17	3598	c.3373C>T	c.(3373-3375)Ctt>Ttt	p.L1125F	DMXL2_uc002abf.3_Missense_Mutation_p.L1125F|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1125						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)		AAATCATCAAGATGAATTGTT	0.378000														32			8		0	0	0.000274275	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736569	20736569	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:20736569G>A	uc002npa.3	-	1	256	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TATAAATTCCGCTGTGCAGTG	0.393000														95			10		0	0	0.00136819	0	0
KNG1	3827	broad.mit.edu	37	3	186460064	186460064	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:186460064C>T	uc011bsa.2	+	9	2113	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	627					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGAAATTAATCCAACCACACA	0.378000														73			34		0	0	0.00128727	0	0
PTPN4	5775	broad.mit.edu	37	2	120723176	120723176	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:120723176G>A	uc002tmf.1	+	24	3284	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	PTPN4_uc010flj.1_Missense_Mutation_p.R551Q|PTPN4_uc010yyr.1_Missense_Mutation_p.R471Q	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	838	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TGTCATGTACGAAACAAGAGG	0.438000														32			12		0	0	0.00136819	0	0
HEXB	3074	broad.mit.edu	37	5	74016258	74016258	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:74016258C>T	uc003kdf.4	+	11	1540	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	HEXB_uc003kdd.3_Nonsense_Mutation_p.Q250*|HEXB_uc010izi.1_Non-coding_Transcript	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	475					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGTACTCAGAAACAGAA	0.358000														44			16		0	0	0.000308642	0	0
TAF4	6874	broad.mit.edu	37	20	60575641	60575641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:60575641G>A	uc002ybs.3	-	9	2623	c.2623C>T	c.(2623-2625)Caa>Taa	p.Q875*		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	875					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AAAGGCGCTTGGAGGAGGAAG	0.458000														50			5		0	0	8.12818e-05	0	0
PCDP1	200373	broad.mit.edu	37	2	120362355	120362355	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:120362355C>T	uc002tmb.3	+	9	1153	c.41C>T	c.(40-42)cCt>cTt	p.P14L	PCDP1_uc010yyq.2_Missense_Mutation_p.P144L	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	300						cilium	calmodulin binding					Colorectal(110;0.196)					AAGCCGAAGCCTCAGAAGGTG	0.458000														59			24		0	0	0.000878237	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787239	121787239	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:121787239G>A	uc003ksw.1	+	9	2903	c.2697G>A	c.(2695-2697)agG>agA	p.R899R	SNCAIP_uc011cwl.1_Silent_p.R457R|SNCAIP_uc003ksy.1_Silent_p.R533R|SNCAIP_uc003ksx.1_Silent_p.R946R|SNCAIP_uc003ksz.1_Silent_p.R533R|SNCAIP_uc010jcu.2_Silent_p.R495R|SNCAIP_uc011cwm.1_Silent_p.R533R|SNCAIP_uc003kta.1_Silent_p.R531R|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.R593R|SNCAIP_uc010jcx.1_Silent_p.R839R|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.R415R	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	899					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTTGGGAGGAAGACAGATG	0.438000														82			12		0	0	0.000308642	0	0
HNF4G	3174	broad.mit.edu	37	8	76471069	76471069	+	Missense_Mutation	SNP	A	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:76471069A>G	uc003yaq.3	+	8	1049	c.779A>G	c.(778-780)aAg>aGg	p.K260R	HNF4G_uc003yar.3_Missense_Mutation_p.K297R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	260					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTAAAAATTAAGAACATGAGG	0.438000														43			10		0	0	0.000673444	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132319	52132319	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:52132319C>T	uc002pxe.3	-	3	850	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	237	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGTGATGGTCTGTGGAGCAT	0.522000														104			29		0	0	0.000491102	0	0
IGSF10	285313	broad.mit.edu	37	3	151166575	151166575	+	Silent	SNP	C	T	T	rs146034413	byFrequency	TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:151166575C>T	uc011bod.2	-	3	1194	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	398					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P398P(4)		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)			AATAGAGCTGCGGTGTTTCAC	0.428000														51			9		0	0	0.000442599	0	0
COL5A3	50509	broad.mit.edu	37	19	10071188	10071188	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:10071188G>A	uc002mmq.1	-	66	5223	c.5137C>T	c.(5137-5139)Cga>Tga	p.R1713*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1713	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.R1713*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AATCCCGCTCGAGAAGAGCTG	0.567000														57			22		0	0	0.000295444	0	0
SLC47A2	146802	broad.mit.edu	37	17	19611707	19611707	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:19611707G>A	uc002gwe.4	-	6	820	c.645C>T	c.(643-645)atC>atT	p.I215I	SLC47A2_uc002gwg.4_Silent_p.I179I|SLC47A2_uc002gwf.4_Silent_p.I179I|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	215						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GGGGCCAGGTGATCTTCTGAA	0.562000														58			25		0	0	0.000586117	0	0
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:128505667C>T	uc003qbk.3	-	6	1439	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_uc010kfc.3_Missense_Mutation_p.E358K|PTPRK_uc003qbj.3_Missense_Mutation_p.E358K|PTPRK_uc011ebu.2_Missense_Mutation_p.E358K|PTPRK_uc003qbl.1_Missense_Mutation_p.E228K|PTPRK_uc011ebv.1_Missense_Mutation_p.E358K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	358	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458000														71			12		0	0	0.00185496	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545497	196545497	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:196545497C>T	uc002utg.4	+	1	945	c.731C>T	c.(730-732)tCt>tTt	p.S244F	SLC39A10_uc002uth.4_Missense_Mutation_p.S244F|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	244					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AATGAAAATTCTGAGGTTATT	0.408000														28			7		0	0	0.000157383	0	0
TBX3	6926	broad.mit.edu	37	12	115109947	115109947	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:115109947G>A	uc001tvt.1	-	7	2895	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F	TBX3_uc001tvu.1_Missense_Mutation_p.S624F	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	644	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CACCGGGATGGAGTAGGGGCT	0.741000														3			3		0	0	6.4e-05	0	0
BTAF1	9044	broad.mit.edu	37	10	93741539	93741539	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:93741539C>T	uc001khr.3	+	15	1993	c.1895C>T	c.(1894-1896)gCt>gTt	p.A632V	BTAF1_uc001khs.1_Missense_Mutation_p.A302V|BTAF1_uc001kht.1_Missense_Mutation_p.A70V	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	632					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGTAAAAGCTAGAGCCAAG	0.378000														20			20		0	0	0.00121646	0	0
CCR2	729230	broad.mit.edu	37	3	46399716	46399716	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:46399716G>A	uc003cpn.4	+	1	1183	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	CCR2_uc003cpm.4_Missense_Mutation_p.R233Q|CCR2_uc021wxa.1_Missense_Mutation_p.R233Q	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	233					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTTCGGTGTCGAAACGAGAAG	0.458000														277			36		0	0	0.00170553	0	0
ZFP112	7771	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:44892134G>A	uc010xxa.2	-	3	337	c.294C>T	c.(292-294)atC>atT	p.I98I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.I91I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GAAGGTTCACGATATAATCCT	0.418000														73			17		0	0	0.000958276	0	0
NPY5R	4889	broad.mit.edu	37	4	164271557	164271557	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:164271557G>A	uc003iqn.3	+	3	314	c.132G>A	c.(130-132)ctG>ctA	p.L44L	NPY5R_uc021xtw.1_Silent_p.L44L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	44					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGTATTTTCTGATTGGGCTCT	0.388000														46			31		0	0	0.00178596	0	0
TTN	7273	broad.mit.edu	37	2	179587136	179587136	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179587136T>C	uc021vsy.1	-	73	18871	c.18646A>G	c.(18646-18648)Aga>Gga	p.R6216G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2877G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7143	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L6216V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCGTCTCTTAAAAGTACT	0.413000														49			13		0	0	0.00136819	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49344473	49344473	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:49344473G>A	uc002pkx.3	-	16	2389	c.1838C>T	c.(1837-1839)tCc>tTc	p.S613F	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	613						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AAGCCGGGGGGAGGTCGGGCG	0.711000														12			7		0	0	0.000442599	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147773	70147773	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:70147773G>A	uc004dyn.3	-	5	1092	c.918C>T	c.(916-918)ctC>ctT	p.L306L	SLC7A3_uc004dyo.3_Silent_p.L306L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	306					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCATCAGGGTGAGTGCAGAAG	0.527000														23			6		0	0	0.00116845	0	0
PRR12	57479	broad.mit.edu	37	19	50097782	50097782	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:50097782C>T	uc002poo.4	+	2	271	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	492	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGTCATGAACCTTATCTCGGC	0.667000														57			13		0	0	0.000308642	0	0
TMEM72	643236	broad.mit.edu	37	10	45429119	45429119	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:45429119G>A	uc001jbn.2	+	3	441	c.244G>A	c.(244-246)Gag>Aag	p.E82K	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_5'UTR	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	82						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CAGAGTAAGGGAGAAAGCCCA	0.597000														17			8		0	0	0.000442599	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623699	46623699	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:46623699C>T	uc003oyh.3	+	1	504	c.226C>T	c.(226-228)Cta>Tta	p.L76L	SLC25A27_uc011dwb.2_Silent_p.L76L|SLC25A27_uc003oyg.3_Silent_p.L76L|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GCGCACAGCTCTAGGGATCAT	0.488000														72			38		0	0	0.00128727	0	0
OR5H14	403273	broad.mit.edu	37	3	97868962	97868962	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:97868962C>T	uc003dsg.1	+	0	733	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGAGCTCATCTCTTATCTGT	0.413000														35			7		0	0	0.000157383	0	0
LRRC4	64101	broad.mit.edu	37	7	127669308	127669308	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:127669308C>T	uc003vmk.3	-	1	1523	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Silent_p.T462T	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	462	Thr-rich.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCGAGATCTCCGTGGTCTCCA	0.547000														86			26		0	0	0.000878237	0	0
MYO15A	51168	broad.mit.edu	37	17	18044418	18044418	+	Missense_Mutation	SNP	G	A	A	rs121908972		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:18044418G>A	uc021trm.1	+	20	5711	c.5492G>A	c.(5491-5493)gGa>gAa	p.G1831E	MYO15A_uc021trl.1_Missense_Mutation_p.G1829E	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1831	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCAAGGAGGGATTTCCAGTG	0.557000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			11		0	0	0.000308642	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008156	41008157	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:41008156_41008157CC>TT	uc002ony.3	+	8	1105_1106	c.1019_1020CC>TT	c.(1018-1020)tcc>tTT	p.S340F	SPTBN4_uc002onx.3_Missense_Mutation_p.S340F|SPTBN4_uc002onz.3_Missense_Mutation_p.S340F	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	340					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.S340F(2)		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)			TTTGCCAACTCCTTAAGTGGGG	0.604000														64			16		0	0	6.4e-05	0	0
PARP12	64761	broad.mit.edu	37	7	139734127	139734127	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:139734127G>A	uc003vvl.1	-	7	2203	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	443	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTTTCTGAACGAAGGCTGAAA	0.378000														23			9		0	0	0.000442599	0	0
ATRN	8455	broad.mit.edu	37	20	3553591	3553591	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:3553591C>T	uc002wim.2	+	11	2175	c.2085C>T	c.(2083-2085)tcC>tcT	p.S695S	ATRN_uc002wil.2_Silent_p.S695S|ATRN_uc021vzz.1_Silent_p.S579S	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	695					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGTTTTTCCAAAAGAAGTA	0.353000														13			10		0	0	0.000442599	0	0
OCRL	4952	broad.mit.edu	37	X	128696746	128696746	+	Missense_Mutation	SNP	G	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:128696746G>T	uc004euq.3	+	11	1392	c.1227G>T	c.(1225-1227)ttG>ttT	p.L409F	OCRL_uc004eur.3_Missense_Mutation_p.L409F	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCCCGCAGTTGAACATCATGA	0.433000														66			14		4.3838e-07	2.38511e-06	0.00185496	1	0
BAZ2B	29994	broad.mit.edu	37	2	160287382	160287382	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:160287382G>A	uc002uao.3	-	9	2591	c.2186C>T	c.(2185-2187)cCa>cTa	p.P729L	BAZ2B_uc002uap.3_Missense_Mutation_p.P727L|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.P302L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P729S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACCAGAGTGTGGGCTTGAAGT	0.408000														58			10		0	0	0.000442599	0	0
EID1	23741	broad.mit.edu	37	15	49170837	49170837	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:49170837C>A	uc001zxc.1	+	0	548	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	SHC4_uc010uey.1_5'Flank|SHC4_uc010uez.1_5'Flank|SHC4_uc001zxb.1_Intron	NM_014335	NP_055150	Q9Y6B2	EID1_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 1 (EID1), mRNA.	155					cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity			liver(1)|prostate(1)	2		all_lung(180;0.00455)		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)		GAGAAGACCCCGTTTGATCAG	0.448000														48			4		0.00116845	0.00624162	0.00116845	1	0
DGAT2L6	347516	broad.mit.edu	37	X	69397495	69397495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:69397495G>A	uc004dxx.1	+	0	160	c.63G>A	c.(61-63)tgG>tgA	p.W21*		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	21					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGCAATGGATCCCAGTCT	0.493000														47			11		0	0	0.00185496	0	0
APOBEC1	339	broad.mit.edu	37	12	7805412	7805412	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:7805412C>T	uc001qtb.3	-	2	98	c.64G>A	c.(64-66)Gag>Aag	p.E22K	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	22					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACGTCAAACTCCCAGGGTTCG	0.478000														54			16		0	0	0.000958276	0	0
SVOPL	136306	broad.mit.edu	37	7	138312999	138312999	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:138312999C>T	uc011kqh.2	-	9	973	c.973G>A	c.(973-975)Ggg>Agg	p.G325R	SVOPL_uc003vue.3_Missense_Mutation_p.G173R	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	325						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTGAGTCCCCCCCAGTCACC	0.557000														55			21		0	0	0.000295444	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374849	37374849	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:37374849C>T	uc010ynh.2	-	2	658	c.101G>A	c.(100-102)gGa>gAa	p.G34E	EIF2AK2_uc010fab.2_Missense_Mutation_p.G34E|EIF2AK2_uc010yng.2_Missense_Mutation_p.G34E|EIF2AK2_uc010fac.3_Missense_Mutation_p.G34E|EIF2AK2_uc010fad.2_Missense_Mutation_p.G34E	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	34	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ATGTGGAGGTCCTGAATTAGG	0.408000														84			23		0	0	0.000375601	0	0
CUTA	51596	broad.mit.edu	37	6	33385045	33385045	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:33385045G>A	uc003oej.1	-	2	588	c.300C>T	c.(298-300)atC>atT	p.I100I	CUTA_uc003oen.1_Silent_p.I119I|CUTA_uc003oem.1_Silent_p.I77I|CUTA_uc003oek.1_Silent_p.I77I|CUTA_uc003oel.1_Silent_p.I77I|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.2_5'Flank|SYNGAP1_uc010juy.3_5'Flank	NM_001014840	NP_057005	O60888	CUTA_HUMAN	Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 5, mRNA.	100					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TAATCTGAGGGATGAGGTTGA	0.532000														54			5		0	0	0.00116845	0	0
ANKFY1	51479	broad.mit.edu	37	17	4087198	4087198	+	Silent	SNP	A	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:4087198A>C	uc002fxn.3	-	12	1950	c.1833T>G	c.(1831-1833)gcT>gcG	p.A611A	ANKFY1_uc002fxo.3_Silent_p.A569A|ANKFY1_uc002fxp.3_Silent_p.A568A|ANKFY1_uc010ckp.3_Silent_p.A510A|ANKFY1_uc002fxq.1_Silent_p.A569A	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	569						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGCATGAAGAGCATTGGCTA	0.453000														77			7		0	0	0.000274275	0	0
TTLL4	9654	broad.mit.edu	37	2	219618933	219618933	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:219618933G>A	uc002viy.3	+	19	3791	c.3421G>A	c.(3421-3423)Ggc>Agc	p.G1141S	TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.3_Missense_Mutation_p.G1077S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1141					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GACTCAAGCTGGCCTTTCCCC	0.512000														63			36		0	0	0.000814825	0	0
KCNC2	3747	broad.mit.edu	37	12	75444664	75444664	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:75444664G>A	uc001sxg.1	-	2	1665	c.1121C>T	c.(1120-1122)aCt>aTt	p.T374I	KCNC2_uc009zry.3_Missense_Mutation_p.T374I|KCNC2_uc001sxe.3_Missense_Mutation_p.T374I|KCNC2_uc001sxf.3_Missense_Mutation_p.T374I|KCNC2_uc010stw.1_Missense_Mutation_p.T374I	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	374					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGCTCGAAGAGTATGTCCAAG	0.443000														34			9		0	0	0.000978159	0	0
LRMP	4033	broad.mit.edu	37	12	25259983	25259983	+	Splice_Site	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:25259983G>A	uc001rgh.3	+	20	2350	c.1256_splice	c.e20+1	p.V419_splice	LRMP_uc010sja.2_Splice_Site_p.V419_splice|LRMP_uc010sjc.2_Splice_Site_p.V419_splice|LRMP_uc001rgi.3_Splice_Site|LRMP_uc010sjb.2_Splice_Site_p.V366_splice|LRMP_uc010sjd.2_Splice_Site_p.V366_splice	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	475					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGTCTCTTCAGTGTAAGTTAT	0.378000														11			5		0	0	0.00116845	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688508	26688508	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:26688508G>A	uc003acb.3	+	1	427	c.231G>A	c.(229-231)gcG>gcA	p.A77A	SEZ6L_uc003acd.3_Silent_p.A77A|SEZ6L_uc011akd.2_Silent_p.A77A|SEZ6L_uc003ace.3_Silent_p.A77A|SEZ6L_uc011akc.2_Silent_p.A77A|SEZ6L_uc003acc.3_Silent_p.A77A|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	77						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACAGTCGGCGGAAGTGCTGG	0.652000														10			5		0	0	0.00116845	0	0
TFDP3	51270	broad.mit.edu	37	X	132351449	132351449	+	Missense_Mutation	SNP	A	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:132351449A>C	uc004exb.1	-	0	928	c.839T>G	c.(838-840)tTt>tGt	p.F280C		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	280	DCB2 (By similarity).|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)					GTTAAACTTAAACAGATATTC	0.493000														127			14		0	0	0.000308642	0	0
MFSD9	84804	broad.mit.edu	37	2	103335191	103335191	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:103335191G>A	uc002tcb.2	-	5	1181	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.A310A	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	371					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCATGGTGGGGGCCAAGGAGT	0.612000														17			6		0	0	0.000157383	0	0
NPY2R	4887	broad.mit.edu	37	4	156135252	156135252	+	Missense_Mutation	SNP	T	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:156135252T>A	uc003ioq.3	+	1	650	c.161T>A	c.(160-162)aTa>aAa	p.I54K	NPY2R_uc003ior.3_Missense_Mutation_p.I54K|NPY2R_uc021xtm.1_Missense_Mutation_p.I54K	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	54					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTTGTTCTCATATTGGCCTAC	0.468000														36			26		0	0	0.001512	0	0
MB21D2	151963	broad.mit.edu	37	3	192516600	192516600	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:192516600C>T	uc011bsp.2	-	1	1372	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	351										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCATAGTCTTCTTGAGCCAAG	0.522000														30			29		0	0	0.00106085	0	0
TNXB	7148	broad.mit.edu	37	6	32026058	32026058	+	Silent	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:32026058G>A	uc003nzl.2	-	21	7804	c.7602C>T	c.(7600-7602)tcC>tcT	p.S2534S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2594	Fibronectin type-III 17.				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						GCGAGTCAGGGGAGGATCCTG	0.677000														203			43		0	0	0.000680045	0	0
EDNRB	1910	broad.mit.edu	37	13	78477731	78477731	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:78477731C>T	uc001vkp.1	-	2	918	c.765G>A	c.(763-765)gaG>gaA	p.E255E	EDNRB_uc001vkq.1_Silent_p.E165E|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Silent_p.E165E|EDNRB_uc010aez.1_Silent_p.E165E	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	165					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGGCCAGTCCTCTGCCAGCA	0.463000														60			5		0	0	0.000602214	0	0
NFIL3	4783	broad.mit.edu	37	9	94171671	94171671	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:94171671C>T	uc022bjt.1	-	0	1346	c.1346G>A	c.(1345-1347)aGa>aAa	p.R449K	NFIL3_uc004arh.3_Missense_Mutation_p.R449K	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	449					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGCTATAAGTCTCTTGAGTGA	0.418000														27			40		0	0	0.000437636	0	0
CCDC132	55610	broad.mit.edu	37	7	92932844	92932844	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:92932844C>T	uc003umo.3	+	16	1562	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	CCDC132_uc003ump.3_Silent_p.F448F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.F198F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	478										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTCAAATTTCAGCATCTTGC	0.308000														141			35		0	0	0.00148497	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479091	32479091	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:32479091C>T	uc003amc.3	+	6	864	c.614C>T	c.(613-615)aCc>aTc	p.T205I	SLC5A1_uc011alz.2_Missense_Mutation_p.T78I	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	205					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.T205I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TACACGGACACCTTGCAGACG	0.587000														43			7		0	0	0.000274275	0	0
BMP15	9210	broad.mit.edu	37	X	50659023	50659023	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:50659023G>A	uc011mnw.2	+	1	644	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	199					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAATAACAAGGGACACAGGAT	0.453000														62			13		0	0	0.000219431	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766534	171766534	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:171766534C>T	uc003mbr.3	-	12	1746	c.1575G>A	c.(1573-1575)cgG>cgA	p.R525R		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	525					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGATTCTTTCCGCGGAGGGA	0.647000														37			6		0	0	0.00116845	0	0
SPPL3	121665	broad.mit.edu	37	12	121202819	121202819	+	Missense_Mutation	SNP	G	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:121202819G>C	uc001tzd.3	-	10	1623	c.1138C>G	c.(1138-1140)Cga>Gga	p.R380G	SPPL3_uc001tzc.3_Missense_Mutation_p.R210G	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	381	Poly-Ser.					integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCAGGAATCGGGAGCTGCTG	0.507000														31			11		0	0	0.000673444	0	0
ASPHD2	57168	broad.mit.edu	37	22	26838430	26838430	+	Nonsense_Mutation	SNP	A	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:26838430A>T	uc003acg.2	+	2	1289	c.892A>T	c.(892-894)Aaa>Taa	p.K298*		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	298					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						ACAAGGTCTGAAAACTCCAAA	0.532000														102			47		0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10366889	10366889	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:10366889C>T	uc002gmn.3	-	7	831	c.720G>A	c.(718-720)agG>agA	p.R240R	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	240	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						AGTTGTCATTCCTCACGGTCT	0.438000														44			30		0	0	0.00058488	0	0
AB231721	0	broad.mit.edu	37	11	58660193	58660193	+	RNA	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr11:58660193G>A	uc001nne.1	+	1		c.133G>A								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F.																		AGTCAGTGAAGGTAGAGCATT	0.433000														23			8		0	0	0.000274275	0	0
KCNH6	81033	broad.mit.edu	37	17	61622553	61622553	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:61622553C>T	uc002jay.3	+	12	2699	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	KCNH6_uc010wpl.2_Silent_p.A714A|KCNH6_uc010wpm.2_Silent_p.A837A|KCNH6_uc002jaz.1_Silent_p.A784A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	873					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGACCTGGCCTTGGTTCCTA	0.632000														61			9		0	0	0.000274275	0	0
INHBA	3624	broad.mit.edu	37	7	41730045	41730045	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:41730045G>A	uc003thq.3	-	1	719	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	INHBA_uc003thr.3_Missense_Mutation_p.P162S	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	162					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V161V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTGGCCTTGGGGACTTTTAGG	0.577000										TSP Lung(11;0.080)				51			13		0	0	0.000308642	0	0
GNPDA2	132789	broad.mit.edu	37	4	44709924	44709924	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:44709924C>T	uc003gwy.3	-	5	771	c.614G>A	c.(613-615)gGg>gAg	p.G205E	GNPDA2_uc010iga.3_Missense_Mutation_p.G171E|GNPDA2_uc011bzb.2_Missense_Mutation_p.G135E|GNPDA2_uc003gwz.1_Missense_Mutation_p.G205E	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	205					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CTTGTGTGCCCCTGTTATAAG	0.378000														30			16		0	0	0.00152264	0	0
EDNRB	1910	broad.mit.edu	37	13	78477733	78477733	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:78477733C>T	uc001vkp.1	-	2	916	c.763G>A	c.(763-765)Gag>Aag	p.E255K	EDNRB_uc001vkq.1_Missense_Mutation_p.E165K|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.E165K|EDNRB_uc010aez.1_Missense_Mutation_p.E165K	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	165					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGCCAGTCCTCTGCCAGCAGC	0.463000														57			5		0	0	0.000602214	0	0
TPRX1	284355	broad.mit.edu	37	19	48305309	48305309	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:48305309G>A	uc002php.2	-	1	1099	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	320	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggattggagctgggac	0.622000														8			5		0	0	0.000602214	0	0
SORCS2	57537	broad.mit.edu	37	4	7716002	7716002	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:7716002C>T	uc003gkb.4	+	15	2025	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	SORCS2_uc011bwi.2_Silent_p.F503F	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	675						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAGAAGTTTCCGGAAAAGAA	0.602000														3			8		0	0	0.000673444	0	0
HRNR	388697	broad.mit.edu	37	1	152187040	152187041	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:152187040_152187041AG>TT	uc001ezt.1	-	2	7140_7141	c.7064_7065CT>AA	c.(7063-7065)act>aAA	p.T2355K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2355					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)			ATCCATGCTGAGTGTAACCAGA	0.554000														502			66		0	0	6.4e-05	0	0
C6orf47	57827	broad.mit.edu	37	6	31627574	31627574	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:31627574C>T	uc003nvm.1	-	0	976	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_021184	NP_067007	O95873	CF047_HUMAN	Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.	51								p.M50I(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CCCACATCTTCCATGGTTTCT	0.577000														169			27		0	0	0.000878237	0	0
AP1G1	164	broad.mit.edu	37	16	71783811	71783811	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:71783811C>A	uc010cgg.3	-	14	1797	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	AP1G1_uc021tkz.1_Nonsense_Mutation_p.E283*|AP1G1_uc002fbb.3_Nonsense_Mutation_p.E518*|AP1G1_uc002faz.3_5'Flank|AP1G1_uc021tky.1_Nonsense_Mutation_p.E498*	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	495					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATAGGCTCTTCCTCTTCACAC	0.428000														210			65		7.33394e-39	4.00504e-38	0.000781405	1	0
PDGFRA	5156	broad.mit.edu	37	4	54256001	54256001	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:54256001C>T	uc003haa.3	+	5	544	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	PDGFRA_uc003gzx.4_Missense_Mutation_p.L105F|PDGFRA_uc011bzt.1_Missense_Mutation_p.L120F|PDGFRA_uc003gzy.3_Missense_Mutation_p.L120F|PDGFRA_uc011bzu.2_Missense_Mutation_p.L105F|PDGFRA_uc003gzz.3_Missense_Mutation_p.L105F|PDGFRA_uc003hab.3_Missense_Mutation_p.L108F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	0	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|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)	ACCTGTAAATCTTAACATCAA	0.308000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				87			5		0	0	0.00116845	0	0
DCC	1630	broad.mit.edu	37	18	50912435	50912435	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr18:50912435C>T	uc002lfe.2	+	15	2998	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	DCC_uc010xdr.1_Silent_p.I642I|DCC_uc010dpf.2_Silent_p.I449I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	794	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATTATGTAATCTCCCTAAAAG	0.363000														64			7		0	0	0.000274275	0	0
ASPM	259266	broad.mit.edu	37	1	197071419	197071419	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:197071419G>A	uc001gtu.3	-	17	7219	c.6962C>T	c.(6961-6963)tCa>tTa	p.S2321L	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.S169L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2321	IQ 22.				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						TCTTCTGTATGATGACTGGAT	0.378000														43			50		0	0	0.000781405	0	0
PSG4	5672	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:43411107C>T	uc002ovj.1	-	4	1306	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E243K|PSG4_uc002ovg.1_Missense_Mutation_p.E403K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	404	Ig-like C2-type 3.				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)				TTGGAGATTTCCTTGCCAGTG	0.448000														178			103		0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766201	77766201	+	Missense_Mutation	SNP	A	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:77766201A>T	uc003yau.2	+	9	7431	c.7044A>T	c.(7042-7044)caA>caT	p.Q2348H	ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2303H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2303	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGAAAGCCAAACAGAAGACT	0.458000										HNSCC(33;0.089)				109			32		0	0	0.000692331	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634314	156634314	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:156634314C>T	uc003iov.3	+	7	1687	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	GUCY1A3_uc010iqc.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S383L|GUCY1A3_uc003iow.3_Missense_Mutation_p.S384L|GUCY1A3_uc003iox.3_Missense_Mutation_p.S384L|GUCY1A3_uc010iqe.3_Missense_Mutation_p.S149L|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S384L|GUCY1A3_uc003ioz.3_Missense_Mutation_p.S149L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S384L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTTTGGGGTCACCCTGTGTG	0.428000														51			5		0	0	8.12818e-05	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282687	69282687	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:69282687G>A	uc004dxu.1	+	0	347	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	105										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGAGTCCGAGGAGAGGGAGCG	0.597000														5			4		0	0	0.00024832	0	0
TRPC5	7224	broad.mit.edu	37	X	111195594	111195594	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:111195594G>A	uc004epl.1	-	1	974	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	TRPC5_uc004epm.1_Missense_Mutation_p.P19S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	19					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATTTGCAGGGGGATGCGGTCT	0.517000														33			11		0	0	0.000978159	0	0
ALMS1	7840	broad.mit.edu	37	2	73747010	73747010	+	Silent	SNP	T	C	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:73747010T>C	uc002sje.1	+	10	9756	c.9645T>C	c.(9643-9645)tcT>tcC	p.S3215S	ALMS1_uc002sjf.1_Silent_p.S3173S|ALMS1_uc002sjg.3_Silent_p.S2603S|ALMS1_uc002sjh.1_Silent_p.S2603S|ALMS1_uc010fev.1_Silent_p.S32S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3215					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						TATTTTCATCTGAGATTTTTA	0.398000														41			19		0	0	0.00188189	0	0
COG4	25839	broad.mit.edu	37	16	70553588	70553588	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:70553588G>A	uc002ezc.3	-	1	229	c.218C>T	c.(217-219)aCc>aTc	p.T73I	COG4_uc002ezd.3_Missense_Mutation_p.T73I|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Intron	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	69	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACTTTCAATGGTGTTTTGCTG	0.453000														28			19		0	0	0.000958276	0	0
PPRC1	23082	broad.mit.edu	37	10	103899089	103899089	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:103899089C>T	uc001kum.3	+	4	863	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PPRC1_uc001kun.3_Missense_Mutation_p.P155L|PPRC1_uc010qqj.2_Missense_Mutation_p.P275L|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGGACTTCCCCATGCATTTG	0.572000														34			14		0	0	0.000566183	0	0
CLIP2	7461	broad.mit.edu	37	7	73770794	73770794	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:73770794C>T	uc003uam.3	+	4	1185	c.858C>T	c.(856-858)atC>atT	p.I286I	CLIP2_uc003uan.3_Silent_p.I286I	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	286						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACAAAGTGATCCGTATCGGCT	0.587000														112			26		0	0	0.00111076	0	0
RADIL	55698	broad.mit.edu	37	7	4871806	4871806	+	Missense_Mutation	SNP	T	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:4871806T>G	uc003snj.1	-	4	1593	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'UTR|RADIL_uc011jwc.1_Missense_Mutation_p.K234Q|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	474					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)		TCTTTGGTTTTCTCCTACAAT	0.517000														12			9		0	0	0.000673444	0	0
DNM2	1785	broad.mit.edu	37	19	10893739	10893739	+	Silent	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:10893739C>T	uc002mpt.2	+	5	982	c.792C>T	c.(790-792)gcC>gcT	p.A264A	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.A264A|DNM2_uc010dxl.2_Silent_p.A264A|DNM2_uc002mpu.2_Silent_p.A264A|DNM2_uc002mpv.2_Silent_p.A264A|DNM2_uc002mpw.3_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	264					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCACCCGGCCTACCGGCACA	0.582000			"""F, N, Splice, Mis, O"""		ETP ALL									27			17		0	0	0.00074312	0	0
VWF	7450	broad.mit.edu	37	12	6125965	6125965	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:6125965C>T	uc001qnn.1	-	28	5375	c.5125G>A	c.(5125-5127)Gaa>Aaa	p.E1709K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1709	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTCATTTCATCAAAATAA	0.507000														84			31		0	0	0.000409698	0	0
C7	730	broad.mit.edu	37	5	40959662	40959662	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:40959662C>T	uc003jmh.3	+	11	1715	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	534	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.S534C(1)					Ovarian(839;0.0112)				GGTGGGAGATCCTGCGTTGGA	0.547000														4			5		0	0	0.000602214	0	0
FUBP1	8880	broad.mit.edu	37	1	78426120	78426120	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:78426120delG	uc001dii.3	-	14	1494	c.1405delC	c.(1405-1407)catfs	p.H469fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.H490fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	469	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAGGTCCATGGGGGCCTGGG	0.537			"""F, N"""		oligodendroglioma								---	7	---	---	14	---					
TFPI	7035	broad.mit.edu	37	2	188348945	188348946	+	Splice_Site	INS	-	G	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:188348945_188348946insG	uc002upy.3	-	6	831	c.536_splice	c.e6-1	p.P179_splice	TFPI_uc002uqa.2_Splice_Site_p.P179_splice|TFPI_uc002uqb.2_Splice_Site_p.P179_splice	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	179					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AACCATTCGCTGGAAAAAAATA	0.391													---	56	---	---	11	---					
TBC1D5	9779	broad.mit.edu	37	3	17279855	17279855	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:17279855delT	uc010hev.3	-	17	1652	c.1388delA	c.(1387-1389)aatfs	p.N463fs	TBC1D5_uc010heu.3_Frame_Shift_Del_p.N50fs|TBC1D5_uc003cbf.3_Frame_Shift_Del_p.N463fs|TBC1D5_uc003cbe.3_Frame_Shift_Del_p.N463fs|TBC1D5_uc010hew.1_Frame_Shift_Del_p.N415fs	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	463						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCTTCCAAAATTAATCAGGCT	0.433													---	27	---	---	20	---					
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	T	T	rs34047276		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:6378797_6378798insT	uc003wqj.4	-	3	1029_1030	c.700_701insA	c.(700-702)atafs	p.I234fs	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Frame_Shift_Ins_p.I234fs|ANGPT2_uc010lri.3_Frame_Shift_Ins_p.I182fs|ANGPT2_uc003wql.4_Frame_Shift_Ins_p.I234fs	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	234					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366													---	103	---	---	8	---					
ZNF774	342132	broad.mit.edu	37	15	90904315	90904316	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:90904315_90904316delTT	uc002bpk.4	+	3	1438_1439	c.1252_1253delTT	c.(1252-1254)tttfs	p.F418fs		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGCTCCCACTTTATTACCCAT	0.520													---	34	---	---	13	---