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
DPY19L2P2	349152	broad.mit.edu	37	7	102850743	102850743	+	RNA	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:102850743C>T	ENST00000312132.4	-	0	3363																											CTAAAACACGCGAAATATCAC	0.259000													8	16					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825383	21825383	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr14:21825383G>A	ENST00000216297.2	-	22	2971	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433000													4	28					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268674	30268674	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:30268674A>T	ENST00000378981.3	+	4	385	c.64A>T	c.(64-66)Acc>Tcc	p.T22S	MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	22										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCGAGAGGAGACCCAGGGTCT	0.592000													3	10					0	0	1	0	0
PPT2	9374	broad.mit.edu	37	6	32130673	32130673	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:32130673C>T	ENST00000324816.6	+	9	1423	c.855C>T	c.(853-855)gcC>gcT	p.A285A	PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Silent_p.A285A|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	285					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CCCACACAGCCTGGCACTCCA	0.547000													51	135					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512000													7	865					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	58					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775248	72775248	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:72775248G>A	ENST00000299687.5	+	8	5571	c.5571G>A	c.(5569-5571)gcG>gcA	p.A1857A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGCCAGCGCCGCCCCCTG	0.682000													21	55					0	0	1	0	0
RPL23AP7	118433	broad.mit.edu	37	2	114369629	114369629	+	RNA	SNP	G	G	T	rs112337169	by1000genomes	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:114369629G>T	ENST00000416673.2	-	0	527					NR_000029.3																						GTTTCTCCTGGGGGTGCTCTT	0.532000													4	33					0.0581538	0.0581538	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	75					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	120					0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998550	8998550	+	Silent	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:8998550A>G	ENST00000310455.3	-	2	762	c.612T>C	c.(610-612)tcT>tcC	p.S204S	PPP1R3B_ENST00000519699.1_Silent_p.S204S	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	204	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TTCTTTCATAAGACTGAATCT	0.483000													3	38					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	79					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887218	128887218	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:128887218C>T	ENST00000371106.3	+	11	1293	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	367					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCCTCAAGGCCAGCCACGTAA	0.547000													30	30					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815542	156815542	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:156815542G>A	ENST00000368195.3	-	10	2439	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	681	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCCATCTCGGCCTCAGGAT	0.637000													10	43					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	183					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													5	26					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903516	62903516	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:62903516T>C	ENST00000512091.1	+	23	4202	c.3455T>C	c.(3454-3456)aTt>aCt	p.I1152T	LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000514591.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1130					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.I1152N(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGAGTTCCATTGGTTCAGGG	0.403000													5	62					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144828599	144828599	+	Missense_Mutation	SNP	G	G	A	rs28736716		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:144828599G>A	ENST00000338347.4	+	14	1645	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.G147R					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CTCACTGGATGGATGTTATTC	0.463000													5	322					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	152027726	152027726	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:152027726C>T	ENST00000355193.2	-	3	567	c.349G>A	c.(349-351)Gca>Aca	p.A117T	KMT2C_ENST00000262189.6_Missense_Mutation_p.A117T					lysine (K)-specific methyltransferase 2C																		AGGGAGTTTGCCGATTCCTCA	0.428000													4	101					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16734587	16734587	+	Silent	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:16734587G>A	ENST00000433922.2	+	8	958	c.780G>A	c.(778-780)aaG>aaA	p.K260K	BZW2_ENST00000405202.1_Silent_p.K184K|BZW2_ENST00000407633.1_Silent_p.K66K|BZW2_ENST00000258761.3_Silent_p.K260K|BZW2_ENST00000452975.2_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	260	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AACTGCAGAAGGAGCTCCAGG	0.522000													3	37					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41805396	41805396	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:41805396T>A	ENST00000396930.3	-	12	2318	c.1775A>T	c.(1774-1776)aAc>aTc	p.N592I	KAT6A_ENST00000485568.1_Missense_Mutation_p.N592I|KAT6A_ENST00000406337.1_Missense_Mutation_p.N592I|KAT6A_ENST00000265713.2_Missense_Mutation_p.N592I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	592	Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AAGACACAGGTTTTGACAATA	0.363000													3	31					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948879	133948879	+	Translation_Start_Site	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:133948879G>A	ENST00000445123.1	+	0	353				FAM122C_ENST00000414371.2_Splice_Site_p.L99_splice|FAM122C_ENST00000370784.4_Splice_Site_p.L63_splice|FAM122C_ENST00000370785.3_Splice_Site_p.L63_splice			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GACGCTCTCTGGTAAGGAAAT	0.383000													39	35					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501630	171501630	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:171501630G>A	ENST00000367742.3	+	12	1645	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	PRRC2C_ENST00000338920.4_Missense_Mutation_p.R466H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R466H			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	466	Glu-rich.		E -> G (in dbSNP:rs704839).				protein C-terminus binding										CGTAAACGGCGTGAAGAGGAA	0.458000													5	16					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266931	6266931	+	Missense_Mutation	SNP	C	C	T	rs142954620	by1000genomes	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:6266931C>T	ENST00000264870.3	-	4	696	c.431G>A	c.(430-432)cGg>cAg	p.R144Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R144Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGACAGCCGCACAGACCT	0.512000													15	50					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672206	28672206	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:28672206A>C	ENST00000280904.6	-	3	655	c.212T>G	c.(211-213)tTc>tGc	p.F71C	DSC2_ENST00000251081.6_Missense_Mutation_p.F71C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	71					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAAATTTGGAAGTCAGGATC	0.338000													5	46					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352433	36352433	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:36352433T>A	ENST00000312412.4	-	11	1353	c.1354A>T	c.(1354-1356)Att>Ttt	p.I452F	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.I297F|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						TTATCCCCAATGTAGTCATGC	0.358000													4	24					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28909395	28909395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:28909395C>A	ENST00000395503.4	+	13	1678	c.1494C>A	c.(1492-1494)tgC>tgA	p.C498*	ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.C498*	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	498					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGTCTATTGCTCCCCAGCCA	0.542000													37	74					3.93418e-24	4.31989e-24	1	1	0
SRP72	6731	broad.mit.edu	37	4	57350934	57350934	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:57350934A>T	ENST00000342756.5	+	10	1711	c.990A>T	c.(988-990)ttA>ttT	p.L330F	SRP72_ENST00000510663.1_Missense_Mutation_p.L269F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	330					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGCCAGTTTACAGTCCCAAA	0.428000													36	76					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19056299	19056299	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:19056299C>T	ENST00000421369.3	+	10	1659	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	TMC7_ENST00000304381.5_Silent_p.C477C|TMC7_ENST00000569532.1_Silent_p.C477C	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	477						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTGACCTTTGCGGCTACAACC	0.562000													4	126					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													5	114					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304658	176304658	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr5:176304658G>T	ENST00000329542.4	+	10	1863	c.1589G>T	c.(1588-1590)aGc>aTc	p.S530I	UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	530	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCTGACAGCTGGAGCCTG	0.647000													10	25					1.11149e-13	1.19699e-13	1	1	0
FRG1BP	284802	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.536_splice	c.e9-1	p.E180_splice	FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269000													6	72					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764710	184764710	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:184764710T>G	ENST00000367511.3	-	14	2381	c.2188A>C	c.(2188-2190)Atg>Ctg	p.M730L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	730	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTCTTCCATCACTGGAGCA	0.542000													28	88					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3990757	3990757	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:3990757G>C	ENST00000381638.2	-	14	2437	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	771							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAAAATTCCAGAAGATCTGCA	0.308000													15	42					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:77469597A>G	ENST00000416283.2	+	1	151	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318000													9	34					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74718668	74718668	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:74718668C>A	ENST00000410003.1	+	8	754	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	TTC31_ENST00000233623.5_Missense_Mutation_p.P249T|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	249							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGGGGATTGGCCCCTCAGTGC	0.562000													5	197					1.23904e-05	1.30917e-05	1	1	0
RRBP1	6238	broad.mit.edu	37	20	17614233	17614233	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr20:17614233G>A	ENST00000377813.1	-	8	2785	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R395W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W|RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	828					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCTCCTGCCGAAGCTTGGCC	0.592000													10	30					0	0	1	0	0
RPS27A	6233	broad.mit.edu	37	2	55460001	55460001	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:55460001C>T	ENST00000272317.6	+	2	365	c.41C>T	c.(40-42)aCc>aTc	p.T14I	RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	14	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						AAGACCATCACCCTCGAGGTA	0.537000													4	8					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159635	18159635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:18159635C>T	ENST00000396275.2	+	3	1247	c.886C>T	c.(886-888)Cag>Tag	p.Q296*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAGGGCTCTGCAGGACACGCC	0.552000													22	46					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127975673	127975673	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:127975673C>T	ENST00000373544.1	+	5	402	c.236C>T	c.(235-237)aCc>aTc	p.T79I	RABEPK_ENST00000373538.3_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	79					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GACTTAGATACCTGCAAGGGC	0.488000													6	85					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52773447	52773447	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr3:52773447G>A	ENST00000233027.5	-	14	2499	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEK4_ENST00000383721.4_Missense_Mutation_p.S720L|NEK4_ENST00000535191.1_Missense_Mutation_p.S677L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	766					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTGATCACCTGAAGGTAGCTC	0.428000													34	41					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18840857	18840857	+	Silent	SNP	C	C	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr10:18840857C>T	ENST00000377304.4	-	9	1384	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	322							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGGTGCATCCAGAAGAATTC	0.398000													4	48					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr15:22473333A>G	ENST00000557788.2	-	0	20																											CCAGGAGGAGAAAGAACCACA	0.512000													5	66					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8111173	8111173	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:8111173G>A	ENST00000305253.4	+	3	461	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	TUB_ENST00000299506.2_Missense_Mutation_p.G19S|TUB_ENST00000534099.1_Missense_Mutation_p.G25S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	19					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGATGATGAGGGCAGAAACCT	0.602000													15	48					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95418813	95418813	+	Silent	SNP	T	T	C	rs145725375	by1000genomes	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:95418813T>C	ENST00000287996.3	-	3	426	c.150A>G	c.(148-150)caA>caG	p.Q50Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	50					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCTGCAGGTGTTGAAATATCT	0.458000													32	63					0	0	1	0	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	118	---	---	---	---					
PNO1	56902	broad.mit.edu	37	2	68400518	68400518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:68400518delG	ENST00000263657.2	+	6	751	c.660delG	c.(658-660)atfs	p.M220fs		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	220	KH.					nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						ATATCAAGATGGCAAGAACTG	0.403													33	62	---	---	---	---					
TMEFF2	23671	broad.mit.edu	37	2	193059174	193059175	+	In_Frame_Ins	INS	-	-	GCAGCA			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:193059174_193059175insGCAGCA	ENST00000409056.3	-	1	75_76	c.76_77insTGCTGC	c.(76-78)cgt>TGCTGCcgt	p.25_26insCC	TMEFF2_ENST00000272771.5_In_Frame_Ins_p.25_26insCC|TMEFF2_ENST00000392314.1_In_Frame_Ins_p.25_26insCC			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	25						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TAGCATGACGGGCAGCAGCAGC	0.599													10	30	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
ABCC6P1	653190	broad.mit.edu	37	16	18593648	18593649	+	RNA	INS	-	-	A			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:18593648_18593649insA	ENST00000546162.2	+	0	805					NR_003569.1																						accctgtctcgaaaaaaaaaaa	0.505													2	4	---	---	---	---					
LILRB4	11006	broad.mit.edu	37	19	55179244	55179244	+	Splice_Site	DEL	G	G	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr19:55179244delG	ENST00000391736.1	+	13	1515	c.1200_splice	c.e13+1	p.E400_splice	LILRB4_ENST00000391733.3_Splice_Site_p.E401_splice|LILRB4_ENST00000270452.2_Splice_Site_p.E400_splice|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Splice_Site_p.E399_splice	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	400						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGACACTGAGGTGAGTCCTT	0.617													7	20	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													12	227	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939263	76939263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:76939263delT	ENST00000373344.5	-	9	1699	c.1485delA	c.(1483-1485)aafs	p.K495fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	495					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTATCAGATTTCTTATGTT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						114	172	---	---	---	---