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
KANK4	163782	broad.mit.edu	37	1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000371150.1_Missense_Mutation_p.R142H|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562000													17	13					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:32725567C>T	ENST00000435145.2	-	4	801	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													5	19					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													3	66					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	112					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													4	44					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77380495	77380495	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:77380495C>T	ENST00000373316.4	+	9	1228	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A218V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	354					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GGAACCAAAGCTCTCATGGAT	0.493000													12	68					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121158888	121158888	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:121158888C>T	ENST00000264233.5	-	27	7468	c.7340G>A	c.(7339-7341)cGt>cAt	p.R2447H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2447					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAATATCTACGCCTTCCCAA	0.328000								DNA polymerases (catalytic subunits)					19	32					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237730050	237730050	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:237730050G>A	ENST00000366574.2	+	28	3715	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1133	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGATGAACGTGCCTTTGCC	0.527000													88	126					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53276168	53276168	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:53276168C>T	ENST00000462138.1	-	2	286	c.198G>A	c.(196-198)ccG>ccA	p.P66P	TKT_ENST00000423525.2_Silent_p.P66P|TKT_ENST00000423516.1_Silent_p.P66P|TKT_ENST00000296289.6_Silent_p.P19P			P29401	TKT_HUMAN	transketolase	66					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTCATTGTGCGGATTCCGGG	0.617000													4	103					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94745679	94745679	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:94745679T>C	ENST00000399300.2	-	3	3173	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	987	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGCCTATCATTTAGATCTTT	0.378000													23	29					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	81					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	58					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62986483	62986483	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr12:62986483A>G	ENST00000393630.3	+	36	5502	c.5111A>G	c.(5110-5112)gAt>gGt	p.D1704G	MON2_ENST00000393632.2_Missense_Mutation_p.D1703G|MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D1674G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1704					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTTTAAGGATTTCATGCAG	0.393000													26	43					0	0	1	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037441	44037441	+	Splice_Site	SNP	C	C	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:44037441C>A	ENST00000372712.2	+	3	721	c.139_splice	c.e3-1	p.P47_splice	SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Splice_Site_p.P47_splice|DBNDD2_ENST00000372722.3_Splice_Site_p.P47_splice|DBNDD2_ENST00000360981.4_Splice_Site_p.P47_splice|DBNDD2_ENST00000372723.3_Splice_Site_p.P47_splice|DBNDD2_ENST00000372717.1_Splice_Site_p.P47_splice|DBNDD2_ENST00000372720.3_Splice_Site_p.P145_splice|DBNDD2_ENST00000372710.3_Splice_Site_p.P149_splice|SYS1-DBNDD2_ENST00000452133.1_3'UTR			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	145					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGATCCGCAGCCCCCATAGGT	0.517000													17	21					3.45872e-05	3.58923e-05	1	1	0
SLC25A52	147407	broad.mit.edu	37	18	29340011	29340011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr18:29340011G>A	ENST00000269205.5	-	1	832	c.644C>T	c.(643-645)aCg>aTg	p.T215M	SLC25A52_ENST00000579441.2_Missense_Mutation_p.T205M	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	205					transport	integral to membrane|mitochondrial inner membrane											ACTGTGAGTCGTTGCGGTAGG	0.453000													8	62					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65397113	65397113	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:65397113G>T	ENST00000355703.3	+	26	4662	c.4123G>T	c.(4123-4125)Gtc>Ttc	p.V1375F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1375						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACTGCTTCGTCCTGGCCTC	0.617000													7	14					0.00198382	0.00202056	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													4	45					0.00909568	0.00909568	1	1	0
ZNF438	220929	broad.mit.edu	37	10	31134429	31134429	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:31134429C>G	ENST00000538351.1	-	8	2555	c.1801G>C	c.(1801-1803)Ggt>Cgt	p.G601R	ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G640R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G650R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGACAACGACCACATTTGATT	0.393000													29	62					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527000													13	291					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23703565	23703565	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:23703565G>A	ENST00000256797.4	-	18	2500	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	ERN2_ENST00000457008.2_Missense_Mutation_p.R678C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	730	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTTGCCTGGCGATAAAGACTG	0.612000													55	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577545T>C	ENST00000420246.2	-	7	868	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	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 LFS; germline mutation and in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)		CTCCGGTTCATGCCGCCCATG	0.577000		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)			25	50					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784549	54784549	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:54784549A>G	ENST00000218436.6	-	8	1987	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	653					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GACCTTGGGCACCAAGGCTGG	0.532000													6	69					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								30	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			10	13					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041183	107041183	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:107041183C>T	ENST00000409886.3	-	20	3327	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R	RGPD3_ENST00000304514.7_Silent_p.R1080R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1080	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCCAAGCCCCTTTCTTTCC	0.378000													175	268					0	0	1	0	0
SMIM19	114926	broad.mit.edu	37	8	42401645	42401645	+	Silent	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:42401645C>T	ENST00000438528.3	+	2	79	c.30C>T	c.(28-30)gaC>gaT	p.D10D	SMIM19_ENST00000417410.2_Silent_p.D10D|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000416469.2_Silent_p.D10D|SMIM19_ENST00000414154.2_Silent_p.D10D|SMIM19_ENST00000490331.2_Silent_p.D10D	NM_001135676.1	NP_001129148.1			small integral membrane protein 19																		TGATGGGTGACGATGGTTCTA	0.433000													42	107					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99865219	99865219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr14:99865219C>T	ENST00000331768.5	-	13	1741	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	528					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGCCTCCTCCTCGAGGTTT	0.532000													69	92					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582000													3	44					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:16006353G>A	ENST00000221700.5	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	102					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597000													5	251					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638129	149638129	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:149638129T>A	ENST00000370401.2	+	4	594	c.284T>A	c.(283-285)aTg>aAg	p.M95K	MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	95					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTGCAATGGGCCCAGGT	0.517000													17	133					0	0	1	0	0
AC093642.5	0	broad.mit.edu	37	2	243037116	243037116	+	RNA	SNP	T	T	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:243037116T>A	ENST00000456398.1	+	0	248																											GCTGGAAGAATTGTGAATCTT	0.398000													5	71					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4202046	4202046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:4202046G>A	ENST00000600132.1	+	6	643	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACCTGGCCGCCAAATACGG	0.522000													4	87					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100860	3100860	+	Silent	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:3100860A>G	ENST00000381951.1	+	1	48	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTCCTGGGAGTTACTAGTC	0.398000													52	62					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6526324	6526324	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:6526324G>C	ENST00000361413.3	-	6	1340	c.982C>G	c.(982-984)Cca>Gca	p.P328A	KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	328						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCAGGAAGTGGATGCTCCCCT	0.522000													4	61					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	45					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39046913	39046913	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:39046913T>C	ENST00000373256.4	+	10	1023	c.980T>C	c.(979-981)gTc>gCc	p.V327A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	327					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TTTGTTCGGGTCATCTGCATC	0.557000													4	158					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134021578	134021578	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:134021578T>C	ENST00000368622.1	-	12	1427	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	STK32C_ENST00000368625.4_Missense_Mutation_p.D479G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	466	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TTCCGCCTCGTCCTCCACAGG	0.706000													3	30					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													5	58					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138192428	138192428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:138192428G>A	ENST00000389567.4	+	19	2474	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	763	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCACAGTGCGCTATGTGTGT	0.562000													62	93					0	0	1	0	0
AC093642.5	0	broad.mit.edu	37	2	243037115	243037115	+	RNA	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:243037115A>G	ENST00000456398.1	+	0	247																											GGCTGGAAGAATTGTGAATCT	0.398000													5	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443923	179443923	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:179443923C>T	ENST00000589042.1	-	320	68058	c.67834G>A	c.(67834-67836)Gat>Aat	p.D22612N	TTN_ENST00000591111.1_Missense_Mutation_p.D20971N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20971	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGCAATCGTACACTATA	0.443000													38	50					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	27					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155234153	155234153	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:155234153A>G	ENST00000424344.3	+	6	806	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	IL9R_ENST00000244174.5_Missense_Mutation_p.I168V|IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V			Q01113	IL9R_HUMAN	interleukin 9 receptor	168					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCTGGAGCATCAGTCCTGC	0.547000													10	72					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	59					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:28566121G>A	ENST00000383768.2	+	10	1201	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	338							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303000													8	56					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939235	76939235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:76939235C>A	ENST00000373344.5	-	9	1727	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	505					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)	TTGGCAGGTTCATATTGAGGT	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						112	172					1.45418e-49	1.53807e-49	1	1	0
ZNF215	7762	broad.mit.edu	37	11	6977476	6977476	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:6977476C>T	ENST00000278319.5	+	7	1856	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I	ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACAAACCTTACTAAGCATCAA	0.408000													7	31					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													7	9	---	---	---	---					
CNTNAP2	26047	broad.mit.edu	37	7	146829342	146829342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:146829342delT	ENST00000361727.3	+	8	1605	c.1089delT	c.(1087-1089)aafs	p.N363fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	363	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGGGAAATTTGAGCTTTT	0.428										HNSCC(39;0.1)			64	54	---	---	---	---