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
TUBB8P7	0	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	46					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45910448	45910448	+	Missense_Mutation	SNP	C	C	A	rs34721735		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:45910448C>A	ENST00000309424.3	+	2	607	c.119C>A	c.(118-120)aCg>aAg	p.T40K	CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	40					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GGTCCAGATACGGAGCTGTGG	0.602000													3	60					0.004672	0.0047888	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145368516	145368516	+	Silent	SNP	G	G	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:145368516G>A	ENST00000342960.5	+	84	10529	c.10494G>A	c.(10492-10494)ccG>ccA	p.P3498P	NBPF10_ENST00000369338.1_Silent_p.P614P|NBPF10_ENST00000369339.2_Silent_p.P616P	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3498										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)		ATTCGACTCCGTCAATGTACT	0.448000													56	416					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154506755	154506755	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:154506755A>G	ENST00000409959.3	+	13	1352	c.1303A>G	c.(1303-1305)Atg>Gtg	p.M435V	KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V|KIAA0922_ENST00000409663.3_Missense_Mutation_p.M434V	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	434						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GACCAAGCACATGTTAAAGGT	0.323000													24	69					0	0	1	0	0
LILRB2	0	broad.mit.edu	37	19	54782291	54782291	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:54782291C>T	ENST00000391748.1	-	7	1208	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000391749.4_Missense_Mutation_p.A361T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCATCAGCTGCTCCCGCCTTG	0.577000													5	68					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158823428	158823428	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:158823428G>T	ENST00000262178.2	-	13	1381	c.1196C>A	c.(1195-1197)gCg>gAg	p.A399E	VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E|VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	399					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCCCGGCTCGCGGACGGGGT	0.701000													2	3					0.0784	0.0784	1	1	0
ODAM	54959	broad.mit.edu	37	4	71063664	71063664	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:71063664A>G	ENST00000396094.2	+	4	213	c.165A>G	c.(163-165)ccA>ccG	p.P55P		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	55					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CATGGATTCCACCTTTCTCTG	0.423000													10	108					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001793	177001793	+	Missense_Mutation	SNP	C	C	T	rs148328689		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:177001793C>T	ENST00000367654.2	-	3	677	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M			O14525	ASTN1_HUMAN	astrotactin 1	222					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGCCCTGCACGCGGGCATTG	0.602000													4	52					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	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													3	57					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584769	1584769	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:1584769C>G	ENST00000381297.4	-	2	893	c.683G>C	c.(682-684)gGc>gCc	p.G228A		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	228						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTCCCGGCCGTGCGCCTC	0.642000			T	CRLF2	"""B-ALL, Downs associated ALL"""								3	24					0	0	1	0	0
C2orf88	84281	broad.mit.edu	37	2	191064711	191064711	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:191064711T>C	ENST00000340623.4	+	2	536	c.125T>C	c.(124-126)gTt>gCt	p.V42A	C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A|C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	42										kidney(1)|large_intestine(1)|lung(1)	3						GCTTCTCCAGTTAATGTCAAA	0.458000													17	116					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14548194	14548194	+	Silent	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:14548194A>G	ENST00000218075.4	+	1	545	c.15A>G	c.(13-15)ctA>ctG	p.L5L	GLRA2_ENST00000355020.4_Silent_p.L5L|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	5					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	ACCGGCAGCTAGTGAACATTT	0.378000													14	86					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88454498	88454498	+	Silent	SNP	C	C	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:88454498C>A	ENST00000261304.2	-	3	424	c.318G>T	c.(316-318)ggG>ggT	p.G106G	GALC_ENST00000393569.2_Silent_p.G80G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000393568.4_Silent_p.G83G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	106					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTTGTCTGCCCATCACCAC	0.363000													3	46					0.00024832	0.000261054	1	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	34					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18880902	18880902	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:18880902C>T	ENST00000388995.6	-	5	2300	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	693										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCACCTGTGCCTCCTTGTCT	0.632000													17	40					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100400090	100400090	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:100400090A>G	ENST00000372927.1	+	16	1880	c.1603A>G	c.(1603-1605)Aaa>Gaa	p.K535E	CENPI_ENST00000218507.5_Missense_Mutation_p.K535E|CENPI_ENST00000423383.1_Missense_Mutation_p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	535					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTCTGTGTCTAAACTGATCCA	0.398000													14	105					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151821338	151821338	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:151821338G>A	ENST00000535741.1	-	14	2260	c.1787C>T	c.(1786-1788)aCg>aTg	p.T596M	LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M|LRBA_ENST00000357115.3_Missense_Mutation_p.T596M			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGAATTCCGTGGACAGATA	0.408000													11	51					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr16:90161618C>T	ENST00000567960.1	+	0	354				TUBB8P7_ENST00000564451.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													4	40					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203731	5203731	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:5203731C>T	ENST00000334314.3	-	4	455		c.e4-1							aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGGAAGAACCCTGGAAACCAA	0.388000													32	81					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024162	24024162	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:24024162T>C	ENST00000328046.8	-	3	904	c.649A>G	c.(649-651)Acc>Gcc	p.T217A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	217	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAATGATGGTATCGGTATGT	0.448000													4	240					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172535680	172535680	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:172535680C>T	ENST00000540014.1	+	5	1595	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CREBRF_ENST00000296953.2_Missense_Mutation_p.R426W			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	426							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AATATCTTCACGGAAGAGAGG	0.393000													5	81					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	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								8	36					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170642	36170642	+	Silent	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:36170642C>T	ENST00000335119.2	+	1	1254	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	381					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGTGGGCGGGAGCATTG	0.562000													4	81					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498000													12	53					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190316559	190316559	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:190316559C>T	ENST00000314761.4	+	4	371	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	104						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAACTTCATGCCCTCTTTACT	0.383000													4	149					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184686700	184686700	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:184686700C>G	ENST00000318130.8	-	12	1485	c.1219G>C	c.(1219-1221)Gca>Cca	p.A407P	EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	407					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTACTTTCTGCAAATTCTGGC	0.333000													3	55					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110217422	110217422	+	Silent	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:110217422T>C	ENST00000241337.4	+	8	671	c.621T>C	c.(619-621)ccT>ccC	p.P207P	GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCCCAAGACCTGTGTTCACAA	0.577000													4	55					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423000													3	37					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:111594984C>T	ENST00000261486.5	-	9	1013	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393000													8	78					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139934450	139934450	+	Silent	SNP	C	C	T			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:139934450C>T	ENST00000371600.3	-	7	1764	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	NPDC1_ENST00000371601.4_Silent_p.T286T			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	286						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACTCGTACACCGTGAAGTCTC	0.672000													4	62					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19373476	19373476	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:19373476T>A	ENST00000379806.5	+	8	872	c.727T>A	c.(727-729)Ttc>Atc	p.F243I	PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I|PDHA1_ENST00000422285.2_Missense_Mutation_p.F205I	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	205			Y -> N (in PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GGGCCAGATATTCGAAGCTTA	0.463000													22	180					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100047870	100047870	+	Silent	SNP	T	T	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:100047870T>C	ENST00000508393.1	-	9	1215	c.1050A>G	c.(1048-1050)gtA>gtG	p.V350V	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.V331V|ADH4_ENST00000505590.1_Silent_p.V350V|ADH4_ENST00000423445.1_Silent_p.V350V			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	331					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GGATAGAATCTACACTTTTCC	0.373000													6	72					0	0	1	0	0
RBM4	5936	broad.mit.edu	37	11	66407646	66407646	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr11:66407646A>G	ENST00000483858.1	+	2	531	c.464A>G	c.(463-465)aAt>aGt	p.N155S	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.N155S|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000310092.7_Intron|RBM14-RBM4_ENST00000412278.2_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGTGCAGAAAATGGTTGGATA	0.468000													3	19					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791974	42791974	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:42791974C>G	ENST00000572681.2	+	7	3573	c.3505C>G	c.(3505-3507)Cac>Gac	p.H1169D	CIC_ENST00000575354.2_Missense_Mutation_p.H260D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	260	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGGAGGCCCACTTCAAGGC	0.612000			"""Mis, F, S"""		oligodendroglioma								3	7					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37672031	37672031	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:37672031A>G	ENST00000447079.4	+	9	2849	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	939	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCAAGCCAATCTGGAACTG	0.403000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			6	51					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61785996	61785996	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:61785996A>G	ENST00000325324.6	+	15	1581	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	IPO11_ENST00000409296.3_Missense_Mutation_p.D511G|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	471						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTTGATTTTGATCAGTGGTTT	0.284000													12	86					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	32					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80940082	80940082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:80940082delT	ENST00000403729.2	-	11	1440	c.915delA	c.(913-915)tcfs	p.S305fs	ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.S305fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	305						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTAATGATCCTGAAATGACAG	0.303									Juvenile Hyaline Fibromatosis				2	4	---	---	---	---					
GIMAP8	155038	broad.mit.edu	37	7	150174536	150174537	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:150174536_150174537delTT	ENST00000307271.3	+	5	2240_2241	c.1666_1667delTT	c.(1666-1668)tfs	p.F556fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	556						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGAGCAGACTTTACGAAATAC	0.495													15	73	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA	rs112821450	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-300)cca>cCCACCAca	p.100_101insTT		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	100	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													4	9	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													2	4	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76781673	76781675	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:76781673_76781675delAGA	ENST00000287239.4	+	16	3545_3547	c.3056_3058delAGA	c.(3055-3060)gag>g	p.EK1019del	KAT6B_ENST00000372725.1_In_Frame_Del_p.EK727del|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_In_Frame_Del_p.EK836del|KAT6B_ENST00000372714.1_In_Frame_Del_p.EK727del|KAT6B_ENST00000372724.1_In_Frame_Del_p.EK727del	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1019					histone H3 acetylation|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 factor binding|zinc ion binding										AGCTGCTGGGAGAAGGAGGAACA	0.498											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	32	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	RNA	INS	-	-	G	rs141646579	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr12:7080210_7080211insG	ENST00000546220.1	+	0	155_156				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													4	4	---	---	---	---					
SNORD3A	0	broad.mit.edu	37	17	19091495	19091497	+	RNA	DEL	TTC	TTC	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:19091495_19091497delTTC	ENST00000365494.1	+	0	167_169																											ttgatgatcgttcttctctccgt	0.542													11	357	---	---	---	---					
KIAA0195	9772	broad.mit.edu	37	17	73487406	73487407	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:73487406_73487407delAG	ENST00000314256.7	+	13	1650_1651	c.1256_1257delAG	c.(1255-1257)cfs	p.Q419fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	419					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGACAAACAGGGGATCCTGT	0.589													14	86	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								29	98	---	---	---	---					
TBC1D8B	54885	broad.mit.edu	37	X	106117115	106117115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:106117115delT	ENST00000357242.5	+	21	3457	c.3283delT	c.(3283-3285)ttfs	p.F1096fs	TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1096						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGGTGAGGTTTTTTGAGAA	0.408													15	107	---	---	---	---					
