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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PPP6R3	55291	broad.mit.edu	37	11	68326128	68326128	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:68326128C>T	uc001onv.3	+	7	1093	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	PPP6R3_uc001onw.3_Missense_Mutation_p.L276F|PPP6R3_uc001ony.4_Missense_Mutation_p.L276F|PPP6R3_uc001onx.3_Missense_Mutation_p.L276F|PPP6R3_uc009ysh.3_Missense_Mutation_p.L276F|PPP6R3_uc001onu.3_Missense_Mutation_p.L276F|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	276					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTGACTTTACTTGAGACACG	0.358000													20	60					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107007	107007	+	RNA	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrGL000211.1:107007G>A	uc003boa.3	+	3		c.706G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCCTGGTTAGCAGAAAATGC	0.408000													4	137					0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74299554	74299554	+	RNA	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:74299554C>T	uc011kfj.2	-	6		c.729G>A						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTATCTCGCACTCAGGGTAGA	0.542000													25	81					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167289081	167289081	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:167289081T>A	uc002udu.2	-	14	2469	c.2339A>T	c.(2338-2340)cAt>cTt	p.H780L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	780					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCATTTACATGGTCCATTGT	0.353000													41	57					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	31					0	0	1	0	0
BLOC1S1	2647	broad.mit.edu	37	12	56109922	56109922	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:56109922G>A	uc009zny.2	+	0	105	c.87G>A	c.(85-87)atG>atA	p.M29I	BLOC1S1_uc001shi.3_Missense_Mutation_p.M1I|BLOC1S1_uc021qys.1_Non-coding_Transcript|BLOC1S1_uc001shj.4_Missense_Mutation_p.M29I|RDH5_uc021qyt.1_5'UTR|BLOC1S1_uc021qyu.1_5'Flank|BLOC1S1_uc021qyv.1_5'Flank			P78537	BL1S1_HUMAN	Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 1 (BLOC1S1), transcript variant 1, mRNA.	29					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						ACGTGACCATGCTGTCCCGCC	0.657000													15	16					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55653236	55653236	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:55653236C>T	uc002qjb.4	-	6	270	c.181G>A	c.(181-183)Gtt>Att	p.V61I	TNNT1_uc002qjc.4_Missense_Mutation_p.V61I|TNNT1_uc002qje.4_Missense_Mutation_p.V50I|TNNT1_uc002qjd.4_Missense_Mutation_p.V50I|TNNT1_uc002qjf.2_Missense_Mutation_p.V57I	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	61					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCGAAGTCAACGCGCTCCCCT	0.602000													23	141					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	59829994	59829994	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:59829994G>T	uc002ybn.2	+	2	257	c.169_splice	c.e2+1	p.V57_splice		NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	57					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTACTTCAAGGTAAGGCGGGG	0.483000													34	57					0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31922417	31922417	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:31922417A>T	uc003nyk.3	-	6	861	c.657T>A	c.(655-657)gaT>gaA	p.D219E	RDBP_uc011dot.2_Missense_Mutation_p.D189E	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	219	30 X 2 AA approximate tandem repeats of R-[DSNE].				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.D219>?(2)		cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						cccgatcccgatccctgtccc	0.642000													15	53					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:72413896A>G	uc003twk.2	+	10	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_uc003twj.3_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1122	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	24					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284343	47284343	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:47284343G>C	uc001cqn.4	+	11	1480	c.1396G>C	c.(1396-1398)Gtg>Ctg	p.V466L	CYP4B1_uc001cqm.4_Missense_Mutation_p.V465L|CYP4B1_uc009vym.3_Missense_Mutation_p.V451L|CYP4B1_uc010omk.2_Missense_Mutation_p.V302L	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	465					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGATGAAGGTGGTCACAGC	0.537000													56	43					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528715	20528715	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:20528715A>G	uc001vwn.1	+	0	512	c.512A>G	c.(511-513)cAc>cGc	p.H171R		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTCTGTGGCCACAATGTCATA	0.398000													62	66					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286045	11286045	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286045T>C	uc009zhs.1	-	0	799	c.799A>G	c.(799-801)Att>Gtt	p.I267V	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTGAATATAATAGCTTGGCAG	0.398000													97	58					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103470202	103470202	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:103470202G>T	uc001dum.3	-	18	2215	c.1897C>A	c.(1897-1899)Caa>Aaa	p.Q633K	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.Q621K|COL11A1_uc001dun.3_Missense_Mutation_p.Q582K|COL11A1_uc009weh.3_Missense_Mutation_p.Q505K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	621	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGAGGACCTTGAGGACCTCGT	0.323000													4	13					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622158	18622158	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:18622158G>A	uc004cym.3	+	11	1367	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	CDKL5_uc004cyn.3_Missense_Mutation_p.A372T|CDKL5_uc022btn.1_Missense_Mutation_p.A363T	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	372					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGAAACCTTGCTGGAGCTAG	0.522000													44	168					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33295250	33295250	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:33295250C>T	uc003zsr.3	+	1	1011	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NFX1_uc011lnw.2_Silent_p.L286L|NFX1_uc003zso.3_Silent_p.L286L|NFX1_uc003zsp.2_Silent_p.L286L|NFX1_uc010mjr.2_Silent_p.L286L|NFX1_uc003zsq.3_Silent_p.L286L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	286					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGGATGACCTCAATGAAAGAC	0.512000													26	17					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:153247366C>T	uc003ims.3	-	9	1598	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_uc011cii.2_Missense_Mutation_p.R479Q|FBXW7_uc003imt.3_Missense_Mutation_p.R479Q|FBXW7_uc011cih.2_Missense_Mutation_p.R303Q|FBXW7_uc003imq.3_Missense_Mutation_p.R399Q|FBXW7_uc003imr.3_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	479					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R479Q(62)|p.R479L(11)|p.R479G(3)|p.R399Q(3)|p.R479P(3)|p.R479*(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R479R(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								9	32					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	90024791	90024791	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:90024791C>A	uc003pnb.2	-	0	177	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L		NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	57					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGCATTTCCACCTGCCCTGTC	0.507000													10	215					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805175	115805175	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:115805175T>C	uc011bis.2	-	1	891	c.384A>G	c.(382-384)gtA>gtG	p.V128V	LSAMP_uc003ebs.3_Silent_p.V128V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	128					cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.V128I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTTACCTTGTACGATCAAGT	0.438000													10	45					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:33245110C>T	uc001bvy.1	-	11	2137	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_uc001bvw.1_Missense_Mutation_p.R110H|YARS_uc001bvx.1_Missense_Mutation_p.R101H	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	450	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	p.R450H(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557000													19	29					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739574	41739574	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:41739574T>A	uc003azw.3	+	12	1669	c.1453T>A	c.(1453-1455)Tgc>Agc	p.C485S		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	501					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACTACCTGTGCAAAGGTGG	0.677000													11	12					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55062742	55062742	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:55062742G>T	uc002iuv.4	+	2	282	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Missense_Mutation_p.G27C	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	77					proteolysis	extracellular region	serine-type carboxypeptidase activity	p.G77S(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCCATAGGGCGGTCCAGGCGG	0.423000													17	51					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39230233	39230233	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:39230233T>C	uc003gtv.3	+	16	2059	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	WDR19_uc011byi.2_Silent_p.H475H|WDR19_uc003gtw.1_Silent_p.H232H	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	635					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTAGCACCCATGGCTTTCTCA	0.428000													46	44					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87780297	87780297	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:87780297G>A	uc003ujn.3	+	19	1782	c.1567_splice	c.e19-1	p.C523_splice	ADAM22_uc003ujk.2_Splice_Site_p.C523_splice|ADAM22_uc003ujl.2_Splice_Site_p.C523_splice|ADAM22_uc003ujm.3_Splice_Site_p.C523_splice|ADAM22_uc003ujo.3_Splice_Site_p.C523_splice|ADAM22_uc003ujp.1_Splice_Site_p.C575_splice	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	523	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCTAGTGTGCCCCTAAT	0.328000													25	15					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438844	58438844	+	Silent	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:58438844A>G	uc002qqs.1	-	3	997	c.705T>C	c.(703-705)tgT>tgC	p.C235C	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.C150C	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGGATTTCCCACATTCCCAGC	0.403000													11	55					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323301	29323301	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:29323301G>T	uc011dlo.2	-	0	754	c.672C>A	c.(670-672)acC>acA	p.T224T		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTCAAGATGGTGGAGATTA	0.468000													29	164					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151688402	151688402	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:151688402C>T	uc001eys.2	-	0	889	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	CELF3_uc021oyt.1_5'UTR|CELF3_uc009wmy.3_Missense_Mutation_p.R32Q|CELF3_uc001eyr.3_Missense_Mutation_p.R32Q|CELF3_uc009wmx.2_Missense_Mutation_p.R32Q|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Missense_Mutation_p.R32Q|RIIAD1_uc001eyu.2_Intron	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	32	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTCAAAGATCCGACCAAACTG	0.592000													4	87					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416020	86416020	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:86416020C>T	uc003uid.3	+	2	2011	c.912C>T	c.(910-912)ggC>ggT	p.G304G	GRM3_uc010lef.3_Silent_p.G302G|GRM3_uc010leg.3_Silent_p.G176G|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	304					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACGGCTGGGGCGCGCAGGAGA	0.677000													19	49					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995770	8995770	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:8995770A>C	uc001quz.4	+	11	1387	c.1289A>C	c.(1288-1290)cAa>cCa	p.Q430P	A2ML1_uc001qva.1_Missense_Mutation_p.Q10P|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	274						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AATCCGGAACAAGTGCCACGT	0.483000													54	45					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47324352	47324352	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:47324352A>C	uc001wwj.4	-	14	2916	c.2758T>G	c.(2758-2760)Tta>Gta	p.L920V	MDGA2_uc001wwh.4_Missense_Mutation_p.L53V|MDGA2_uc001wwi.4_Missense_Mutation_p.L622V	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	851	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACATTTAAGACACCTAAA	0.308000													5	23					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915512	136915512	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:136915512G>T	uc004cew.3	-	4	886	c.698C>A	c.(697-699)aCg>aAg	p.T233K	BRD3_uc004cex.2_Missense_Mutation_p.T233K	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	233						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GACAGGCGGCGTAGGAGGGAC	0.692000			T	C15orf55	lethal midline carcinoma of young people								57	2					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414289	68414289	+	RNA	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:68414289C>T	uc004aex.3	+	0		c.844C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ggaagacttgcaagtctctca	0.443000													6	40					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152711818	152711818	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:152711818C>A	uc002tya.3	-	10	1008	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	CACNB4_uc002txy.3_Missense_Mutation_p.D280Y|CACNB4_uc002txz.3_Missense_Mutation_p.D296Y|CACNB4_uc010fnz.3_Missense_Mutation_p.D314Y	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	314					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TTGATGGTGTCTGCATCAAGA	0.373000													5	33					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148360	44148360	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:44148360T>G	uc001rns.4	-	1	769	c.689A>C	c.(688-690)aAa>aCa	p.K230T	PUS7L_uc001rnq.4_Missense_Mutation_p.K230T|PUS7L_uc001rnr.4_Missense_Mutation_p.K230T|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	230					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAAGGTAAATTTGGAATTTTC	0.308000													6	40					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413573	68413573	+	RNA	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:68413573G>A	uc004aex.3	+	0		c.128G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CAGTGGCGCCGGATCTAGGAA	0.597000													3	36					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457843	98457843	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:98457843G>C	uc003upo.3	-	2	699	c.510C>G	c.(508-510)ctC>ctG	p.L170L	TMEM130_uc011kiq.2_Silent_p.L151L|TMEM130_uc011kir.2_Silent_p.L170L|TMEM130_uc003upn.3_Silent_p.L68L	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	170	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCGGTCTTGAGGAAGTTGC	0.592000													14	29					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107044	107044	+	RNA	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrGL000211.1:107044T>C	uc003boa.3	+	3		c.743T>C								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		ACAAAGAAAATAGAACGCCTT	0.358000													5	122					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	124008056	124008056	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:124008056A>T	uc001ufe.2	-	1	682	c.446T>A	c.(445-447)tTc>tAc	p.F149Y	RILPL1_uc010tas.1_Missense_Mutation_p.F149Y	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 1 (RILPL1), mRNA.	149					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ATGCTTCTGGAACTCCTCCTC	0.577000													22	79					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185088	39185088	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:39185088C>G	uc003cjg.3	-	4	1442	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CSRNP1_uc003cjh.3_Missense_Mutation_p.E410Q	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	410					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCCCTTCCTCCTCTTCCTCC	0.602000													11	49					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159642727	159642727	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:159642727A>T	uc010kjv.3	+	6	966	c.766_splice	c.e6+1	p.E256_splice	FNDC1_uc010kjw.1_Splice_Site_p.E204_splice	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	256						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAAGATTTCAGGTATGTTTC	0.453000													3	33					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53611281	53611281	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:53611281G>A	uc004dsp.3	-	40	5428	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C	HUWE1_uc004dsn.3_Missense_Mutation_p.R501C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1676	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACAGGGCGTCGGTTCCCT	0.438000													5	52					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118406	118406	+	RNA	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrGL000205.1:118406T>C	uc002kgk.4	+	0		c.1784T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CCAACAGTGGTACATCCTTCC	0.562000													26	109					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150889670	150889670	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:150889670T>G	uc003lue.4	-	20	11984	c.11971A>C	c.(11971-11973)Act>Cct	p.T3991P	FAT2_uc003lud.4_Missense_Mutation_p.T598P	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3991	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGCAAAAGTACAGTTCTCC	0.522000													6	141					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100733115	100733115	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:100733115A>G	uc003yiv.3	+	38	7076	c.6965A>G	c.(6964-6966)tAt>tGt	p.Y2322C	VPS13B_uc003yiw.3_Missense_Mutation_p.Y2297C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2322					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGGGGTCTATGAAGTCTTA	0.348000													14	21					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27277388	27277388	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:27277388A>T	uc002ylz.3	-	15	2110	c.1910_splice	c.e15-1	p.V637_splice	APP_uc011acg.2_Splice_Site_p.V145_splice|APP_uc010glk.3_Splice_Site_p.V613_splice|APP_uc002yma.3_Splice_Site_p.V618_splice|APP_uc011ach.2_Splice_Site_p.V581_splice|APP_uc021whz.1_Intron|APP_uc021wia.1_Intron|APP_uc002ymb.3_Splice_Site_p.V562_splice|APP_uc010glj.3_Splice_Site_p.V506_splice|APP_uc021wib.1_Intron|APP_uc011aci.2_Splice_Site_p.V527_splice	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	637					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAACAGGCTCAACTGGGCACA	0.537000													10	13					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058029	53058029	+	Silent	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:53058029G>A	uc010epq.1	+	4	2037	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ATACTGGAGAGAAACCATACA	0.398000													35	34					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45914649	45914649	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:45914649C>T	uc010gzz.3	+	1	314	c.167C>T	c.(166-168)aCg>aTg	p.T56M	FBLN1_uc003bgg.1_Missense_Mutation_p.T56M|FBLN1_uc003bgh.3_Missense_Mutation_p.T56M|FBLN1_uc003bgi.1_Missense_Mutation_p.T56M|FBLN1_uc003bgj.1_Missense_Mutation_p.T56M	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	56	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATATGCTACGGAATCCAAA	0.562000													18	0					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	Missense_Mutation	SNP	G	G	A	rs142836124	by1000genomes	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:141070116G>A	uc010ncq.3	+	3	1196	c.356G>A	c.(355-357)cGc>cAc	p.R119H						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													4	85					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652949	1652949	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:1652949C>T	uc002qxa.3	-	16	2667	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	868					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCCTGGCCCGGGAGTCATT	0.662000													17	31					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414338	68414338	+	RNA	SNP	G	G	T	rs62545747		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:68414338G>T	uc004aex.3	+	0		c.893G>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		gcttagtgaagatgtagaatt	0.413000													5	29					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138282944	138282944	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:138282944G>C	uc003ldo.3	-	10	1454	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	SIL1_uc003ldp.3_Silent_p.P416P	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	416					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGAGCTGGGGGTCCTGAC	0.677000									Marinesco-Sjgren syndrome				34	21					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139981513	139981513	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:139981513C>G	uc004cld.2	+	0	97	c.62C>G	c.(61-63)aCg>aGg	p.T21R	MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.2_Missense_Mutation_p.T21R|MAN1B1_uc010ncc.2_Non-coding_Transcript|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	21					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GACTTCCTGACGCCGCCAGTG	0.687000													4	10					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286029	11286029	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286029G>A	uc009zhs.1	-	0	815	c.815C>T	c.(814-816)cCt>cTt	p.P272L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTGGGTTGAAGGATAGCTGAA	0.413000													94	52					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154056029	154056029	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:154056029C>A	uc003faa.3	-	3	1755	c.1655G>T	c.(1654-1656)tGt>tTt	p.C552F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	552						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATGCACACAAGGGAAT	0.448000													61	135					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40691917	40691917	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:40691917T>C	uc003jlz.3	+	2	1496	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	302					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCAGCCAAGTTTGGAGCGAGA	0.413000													17	72					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87696407	87696407	+	Silent	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:87696407T>A	uc003hpz.3	+	33	6072	c.5592T>A	c.(5590-5592)gtT>gtA	p.V1864V	PTPN13_uc003hpy.3_Silent_p.V1869V|PTPN13_uc003hqa.3_Silent_p.V1845V|PTPN13_uc003hqb.3_Silent_p.V1673V|PTPN13_uc003hqc.1_Silent_p.V230V	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1864	PDZ 4.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGATTAGTTATTGGACGAG	0.388000													4	23					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92506029	92506029	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:92506029T>C	uc001xzy.3	-	0	375	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRIP11_uc001xzz.4_Non-coding_Transcript	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAGGACGACATCGCGGCGAGT	0.602000			T	PDGFRB	AML								6	2					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33604672	33604672	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:33604672G>T	uc002nug.1	+	14	2207	c.1893_splice	c.e14-1	p.D631_splice	GPATCH1_uc002nuh.1_Missense_Mutation_p.S8I	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	631			D -> E (in dbSNP:rs35389599).			catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAATTCCCAGTTCAACTTTA	0.433000													15	26					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41507845	41507845	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:41507845G>C	uc001uxs.3	-	8	1949	c.1576C>G	c.(1576-1578)Cca>Gca	p.P526A	ELF1_uc010tfc.2_Missense_Mutation_p.P502A|ELF1_uc010acd.3_Missense_Mutation_p.P419A	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	526					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTGAAGGATGGAGAGGAAGCC	0.512000													45	4					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513391	109513391	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:109513391G>C	uc010fjn.3	-	11	1962	c.1415C>G	c.(1414-1416)cCt>cGt	p.P472R	EDAR_uc010yws.2_Missense_Mutation_p.P472R|EDAR_uc002teq.4_Missense_Mutation_p.P440R	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	440					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGGAGGCAGGTGGCACAAC	0.592000													12	9					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577552	7577552	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577552C>A	uc002gim.2	-	6	923	c.729G>T	c.(727-729)atG>atT	p.M243I	TP53_uc002gig.1_Missense_Mutation_p.M243I|TP53_uc002gih.3_Missense_Mutation_p.M243I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M111I|TP53_uc010cnf.1_Missense_Mutation_p.M111I|TP53_uc002gii.1_Missense_Mutation_p.M111I|TP53_uc010cni.1_Missense_Mutation_p.M243I|TP53_uc010cnh.1_Missense_Mutation_p.M243I|TP53_uc002gij.2_Missense_Mutation_p.M243I|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M150I|TP53_uc002gio.2_Missense_Mutation_p.M111I|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	243	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(74)|p.C242Y(41)|p.C242S(27)|p.C242fs*5(16)|p.M243I(14)|p.C242R(12)|p.M243L(10)|p.0?(8)|p.C242W(7)|p.M243T(6)|p.?(5)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242G(2)|p.C242fs*98(2)|p.M243R(2)|p.M243fs*18(2)|p.M243_G244>IC(2)|p.M243K(2)|p.S241_G245delSCMGG(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.G244fs*3(1)|p.N239_C242>S(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCATGCCGCCCATGCAGGAAC	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	2					0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:22473333A>G	uc001yuj.2	-	5		c.78T>C								Parts of antibodies, mostly variable regions.																		CCAGGAGGAGAAAGAACCACA	0.512000													4	47					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	36872095	36872095	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:36872095G>T	uc001zje.4	+	0	284	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S		NM_001130010	NP_115888	Q9Y2V0	CO041_HUMAN	Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA.	12							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CGACGAGATAGCCCAGTGCCT	0.567000													8	11					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118506246	118506246	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118506246C>G	uc001ptr.2	+	10	2868	c.2515C>G	c.(2515-2517)Cgc>Ggc	p.R839G	PHLDB1_uc001pts.3_Missense_Mutation_p.R839G|PHLDB1_uc001ptt.3_Missense_Mutation_p.R839G|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.R639G|PHLDB1_uc001ptw.2_Missense_Mutation_p.R241G|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	839										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCTGCTCCGCAGCATCGC	0.632000													17	56					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140278710	140278710	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:140278710G>A	uc003ihu.1	+	11	1513	c.1257_splice	c.e11+1	p.K419_splice		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	419					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATCTATAAGGTAAAAATCTT	0.284000													6	4					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689572	42689572	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:42689572G>T	uc003osk.3	-	0	787	c.501C>A	c.(499-501)ggC>ggA	p.G167G		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	167			G -> D (in PDREP; butterfly-shaped).|G -> S (in PDREP; butterfly-shaped).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AACCGTTGTTGCCGCAGCATT	0.502000													22	234					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90484253	90484253	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:90484253G>A	uc001dnq.2	+	8	1223	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	ZNF326_uc009wda.1_Missense_Mutation_p.V273M|ZNF326_uc001dnr.2_Missense_Mutation_p.V156M	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGAGTGTATGGTGAATAAATT	0.289000													12	11					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6696569	6696569	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:6696569A>C	uc001qpo.3	-	24	4024	c.3860T>G	c.(3859-3861)gTa>gGa	p.V1287G	CHD4_uc001qpn.3_Missense_Mutation_p.V1280G|CHD4_uc001qpp.3_Missense_Mutation_p.V1284G	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1287					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTTCCCGTACCACATACTG	0.448000													35	66					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42745780	42745780	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:42745780G>A	uc001rng.1	+	2	271	c.166G>A	c.(166-168)Gtt>Att	p.V56I	PPHLN1_uc001rna.3_Intron|PPHLN1_uc001rnb.3_Missense_Mutation_p.V63I|PPHLN1_uc001rnc.3_Missense_Mutation_p.V56I|PPHLN1_uc001rnd.3_Intron|PPHLN1_uc001rnf.3_Missense_Mutation_p.V56I|PPHLN1_uc010skq.2_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	56					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGTCATGTTGATTACCG	0.423000													15	30					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127439984	127439984	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:127439984G>C	uc003ejx.3	-	4	537	c.392C>G	c.(391-393)aCg>aGg	p.T131R	MGLL_uc003ejw.3_Missense_Mutation_p.T141R|MGLL_uc011bko.2_Missense_Mutation_p.T141R|MGLL_uc010hsp.1_Missense_Mutation_p.T131R|MGLL_uc003ejv.3_Missense_Mutation_p.T105R	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	131					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCTGCGGCCGTGAGGATGGC	0.537000													22	60					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38713335	38713335	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:38713335A>C	uc021uty.1	-	1	151	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V	DPF1_uc002ohm.3_Missense_Mutation_p.F42V|DPF1_uc002ohl.3_Missense_Mutation_p.F42V|DPF1_uc002ohn.3_5'UTR|DPF1_uc010xtw.1_Missense_Mutation_p.F16V	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	42					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGCGGTAGAAGTCCTCGCCT	0.731000													8	13					0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52448894	52448894	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52448894G>A	uc001rzs.3	+	2	1101	c.782G>A	c.(781-783)gGt>gAt	p.G261D	NR4A1_uc010sno.2_Missense_Mutation_p.G274D|NR4A1_uc001rzr.2_Missense_Mutation_p.G261D|NR4A1_uc009zmb.2_Missense_Mutation_p.G261D|NR4A1_uc001rzt.3_Missense_Mutation_p.G261D|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	261					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCCCCAGGTGGAAGTGAA	0.612000													45	48					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77713331	77713331	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:77713331G>A	uc021rks.1	-	52	7926	c.7659_splice	c.e52+1	p.D2553_splice	MYCBP2_uc010aev.3_Splice_Site_p.D1919_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTACTTACGTCAACAGGGA	0.383000													4	76					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972583	235972583	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:235972583T>C	uc001hxj.2	-	4	1710	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.H512R	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	512					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTCGGTGATGATGCATAAA	0.383000													45	23					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9663433	9663433	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:9663433C>T	uc002qzu.3	-	6	971	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	ADAM17_uc010ewy.3_Missense_Mutation_p.R263Q|ADAM17_uc010ewz.3_Intron|ADAM17_uc010exa.3_Non-coding_Transcript	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	263	Peptidase M12B.				B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGAAGTGTTCCGATAGATGTC	0.323000													34	28					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024554	45024554	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:45024554G>C	uc010ejn.1	-	4	1000	c.984C>G	c.(982-984)aaC>aaG	p.N328K	CEACAM20_uc010ejo.1_Missense_Mutation_p.N328K|CEACAM20_uc010ejp.1_Missense_Mutation_p.N328K|CEACAM20_uc010ejq.1_Missense_Mutation_p.N328K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	328	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTGCCCCAGTTCCAGACCT	0.617000													26	22					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102300458	102300458	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:102300458A>C	uc001krj.4	+	2	571	c.496A>C	c.(496-498)Aac>Cac	p.N166H		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit inhibitor (HIF1AN), mRNA.	166	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTTAGGTTTTAACTGGAACTG	0.448000													39	7					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52387803	52387803	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52387803G>T	uc010snn.2	+	9	1627	c.1550G>T	c.(1549-1551)tGt>tTt	p.C517F	ACVR1B_uc001rzn.3_Missense_Mutation_p.C476F|ACVR1B_uc021qya.1_Missense_Mutation_p.C424F	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	476					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATGCGAGAGTGTTGGTATGCC	0.607000													60	51					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178339	42178339	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:42178339G>A	uc001zos.3	-	6	1342	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	372					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTCTGTAGCCGGAAGAGCAGG	0.672000													12	1					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347056	48347056	+	Silent	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:48347056C>A	uc010rhv.2	+	0	564	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517000													7	83					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95557638	95557638	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:95557638T>A	uc001ydw.2	-	25	5641	c.5429A>T	c.(5428-5430)gAt>gTt	p.D1810V	DICER1_uc010avh.1_Missense_Mutation_p.D708V|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.D1800V|DICER1_uc001ydx.2_Missense_Mutation_p.D1810V	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1810	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1810A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCAAAAATATCCCCCATGGC	0.453000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				116	122					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31605884	31605884	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:31605884G>C	uc002rnv.1	-	10	1100	c.1021C>G	c.(1021-1023)Caa>Gaa	p.Q341E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	341	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GACTTGACTTGCTTCCCAGCA	0.557000													32	22					0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042103	2042103	+	Silent	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:2042103C>G	uc002cod.3	+	1	386	c.228C>G	c.(226-228)ctC>ctG	p.L76L	TCRBV20S1_uc021tak.1_Intron	NM_004209	NP_004200	O43761	SNG3_HUMAN	Homo sapiens synaptogyrin 3 (SYNGR3), mRNA.	76	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGCTGGGCCTCGGAGCCTTCC	0.706000													10	5					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764634	82764634	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:82764634C>T	uc003uhx.2	-	2	2521	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_uc003uhv.2_Silent_p.Q744Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	690	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTTGTCCTGCTCAGATG	0.517000													14	40					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217391	111217393	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:111217391_111217393delGGC	uc001dzv.1	-	0	263_265	c.39_41delGCC	c.(37-42)ccgccc>ccc	p.13_14PP>P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	13						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGCTGAGGGCGGCGGCGGCG	0.768													2	4	---	---	---	---					
OSTalpha	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:195955100_195955102delCTG	uc003fwd.3	+	4	678_680	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del	OSTalpha_uc010iac.1_In_Frame_Del_p.C48del|OSTalpha_uc003fwe.3_In_Frame_Del_p.C31del	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	164	Poly-Cys.					integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		ACACAGGCCCctgctgctgctgc	0.665													7	201	---	---	---	---					
ATP8B5P	158381	broad.mit.edu	37	9	35450411	35450411	+	RNA	DEL	T	T	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:35450411delT	uc010mko.3	+	10		c.1821delT			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		TGACTTGAGGTTTTTTTTTCC	0.343													2	4	---	---	---	---					
IL18BP	10068	broad.mit.edu	37	11	71712330	71712332	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:71712330_71712332delATT	uc001orh.2	+	2	1241_1243	c.319_321delATT	c.(319-321)attdel	p.I107del	IL18BP_uc001orf.1_In_Frame_Del_p.I107del|IL18BP_uc021qmv.1_In_Frame_Del_p.I107del|IL18BP_uc001ore.1_In_Frame_Del_p.I107del|IL18BP_uc001org.1_In_Frame_Del_p.I107del|IL18BP_uc001ori.2_In_Frame_Del_p.I107del|IL18BP_uc009ysv.1_Intron	NM_005699	NP_005690	O95998	I18BP_HUMAN	Homo sapiens interleukin 18 binding protein (IL18BP), transcript variant C, mRNA.	107	Ig-like C2-type.				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGGTTCCTTCATTGAGCACCTCC	0.611													30	26	---	---	---	---					
ANKFY1	51479	broad.mit.edu	37	17	4071081	4071086	+	In_Frame_Del	DEL	CCCCAC	CCCCAC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:4071081_4071086delCCCCAC	uc002fxn.3	-	24	3740_3745	c.3623_3628delGTGGGG	c.(3622-3630)ggtggggtt>gtt	p.GG1208del	ANKFY1_uc002fxo.3_In_Frame_Del_p.GG1167del|ANKFY1_uc002fxp.3_In_Frame_Del_p.GG1165del|ANKFY1_uc010ckp.3_In_Frame_Del_p.GG1108del	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	1166						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						CACTAAGAAACCCCACCCAGAGTCAG	0.544													19	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577134	7577134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577134delG	uc002gim.2	-	7	998	c.804delC	c.(802-804)aacfs	p.N268fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N268fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N136fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N136fs|TP53_uc002gii.1_Frame_Shift_Del_p.N136fs|TP53_uc010cni.1_Frame_Shift_Del_p.N268fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N268fs|TP53_uc002gij.2_Frame_Shift_Del_p.N268fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	268	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R267W(23)|p.R267P(15)|p.R267Q(10)|p.0?(8)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.N268N(4)|p.R267L(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.N268H(3)|p.G266_N268delGRN(2)|p.?(2)|p.L265_K305del41(2)|p.E258fs*71(1)|p.G262fs*2(1)|p.N268fs*8(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.N268F(1)|p.N268I(1)|p.N268S(1)|p.R267G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTCAAAGCTGTTCCGTCCCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	2	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:278688_278690delCGG	uc002wdf.3	+	0	485_487	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	159	Poly-Ala.						nucleic acid binding|zinc ion binding	p.A159delA(6)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													4	3	---	---	---	---					
GPRASP1	9737	broad.mit.edu	37	X	101912011	101912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:101912011delG	uc010nod.3	+	2	3812	c.3170delG	c.(3169-3171)tggfs	p.W1057fs	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Frame_Shift_Del_p.W1057fs|GPRASP1_uc004ejj.4_Frame_Shift_Del_p.W1057fs|GPRASP1_uc004eji.4_Frame_Shift_Del_p.W1057fs|GPRASP1_uc022cbd.1_Frame_Shift_Del_p.W1057fs	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1057	OPRD1-binding.					cytoplasm	protein binding	p.P1056S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTCCATGGGGTAGGGTC	0.517													104	135	---	---	---	---					
