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
PRB1	5542	broad.mit.edu	37	12	11508473	11508473	+	Silent	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:11508473C>A	ENST00000500254.2	-	1	52	c.15G>T	c.(13-15)ctG>ctT	p.L5L	PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Silent_p.L5L	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	5						extracellular region		p.L5L(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCACTGACAGCAGAATCAACA	0.507000													11	83					2.23348e-06	2.60573e-06	0.028581	1	0
OR4C11	219429	broad.mit.edu	37	11	55371130	55371130	+	Silent	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:55371130A>T	ENST00000302231.4	-	1	744	c.720T>A	c.(718-720)tcT>tcA	p.S240S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAATTATGTGAGACGTGCAAG	0.403000													22	22					0	0	0.010504	0	0
AMER1	139285	broad.mit.edu	37	X	63411835	63411835	+	Silent	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:63411835A>T	ENST00000330258.3	-	2	1604	c.1332T>A	c.(1330-1332)tcT>tcA	p.S444S	AMER1_ENST00000374869.3_Silent_p.S444S|AMER1_ENST00000403336.1_Silent_p.S444S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.S444S(2)									GGCCAGGATAAGACCTAACTG	0.537000													11	17					0	0	0.013537	0	0
AMER3	205147	broad.mit.edu	37	2	131520209	131520209	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:131520209G>A	ENST00000423981.1	+	2	674	c.564G>A	c.(562-564)ggG>ggA	p.G188G	AMER3_ENST00000321420.4_Silent_p.G188G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.G188G(1)									CCTCCCCAGGGGACCCGTCAG	0.667000													8	30					0	0	0.004482	0	0
LACTB	114294	broad.mit.edu	37	15	63433834	63433834	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:63433834G>C	ENST00000261893.4	+	6	1546	c.1474G>C	c.(1474-1476)Gcc>Ccc	p.A492P	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	492						mitochondrion	hydrolase activity	p.A492P(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGCAGTGGGTGCCAGTAGTGT	0.443000													3	35					0	0	0.004672	0	0
P4HB	5034	broad.mit.edu	37	17	79803440	79803440	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr17:79803440C>G	ENST00000331483.4	-	9	1578	c.1356G>C	c.(1354-1356)agG>agC	p.R452S	P4HB_ENST00000439918.2_Missense_Mutation_p.R408S|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	452	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R452S(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GGCGCACCGTCCTGTCGGCAC	0.642000													3	11					0	0	0.009096	0	0
FAM47B	170062	broad.mit.edu	37	X	34962818	34962818	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:34962818C>G	ENST00000329357.5	+	1	1906	c.1870C>G	c.(1870-1872)Cct>Gct	p.P624A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	624								p.P624A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTTAAGACTCCTATTCAACG	0.398000													6	77					0	0	0.029380	0	0
VPS13B	157680	broad.mit.edu	37	8	100514085	100514085	+	Splice_Site	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:100514085A>G	ENST00000395996.1	+	26	4152	c.4042_splice	c.e26+1	p.T1347_splice	VPS13B_ENST00000358544.2_Splice_Site_p.T1347_splice|VPS13B_ENST00000357162.2_Splice_Site_p.T1347_splice			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1347					protein transport			p.T1347T(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAAAGGCACAGGTACAGGAT	0.488000													10	124					0	0	0.006214	0	0
PROCR	10544	broad.mit.edu	37	20	33764041	33764041	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:33764041C>T	ENST00000216968.4	+	3	475	c.393C>T	c.(391-393)ttC>ttT	p.F131F	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	131					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	p.F131F(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ATGTCTTCTTCGAAGTGGCTG	0.602000													6	60					0	0	0.029380	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											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)		TTTCACAACAGTAAGTTAAGA	0.423000													5	57					0	0	0.021553	0	0
FAM84A	151354	broad.mit.edu	37	2	14774863	14774863	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:14774863G>A	ENST00000295092.2	+	2	1048	c.760G>A	c.(760-762)Gtc>Atc	p.V254I	FAM84A_ENST00000331243.4_Missense_Mutation_p.V254I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	254								p.V254I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			AGAGAACAAGGTCCACACCGC	0.657000													6	9					0	0	0.021553	0	0
INSRR	3645	broad.mit.edu	37	1	156810666	156810666	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:156810666C>T	ENST00000368195.3	-	22	4289	c.3893G>A	c.(3892-3894)tGa>tAa	p.*1298*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	0					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.*1298*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGTGCCCCTCAGTGCCCTGG	0.657000													5	17					0	0	0.014758	0	0
GPR182	11318	broad.mit.edu	37	12	57389032	57389032	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:57389032G>A	ENST00000300098.1	+	2	258	c.39G>A	c.(37-39)gaG>gaA	p.E13E		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	13						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E13E(1)		endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCCCCTCGGAGGGGGTCACCG	0.597000													46	90					0	0	0.013114	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508774	161508774	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:161508774G>A	ENST00000392142.4	+	10	2759	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E871K|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E871K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E871K	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	871					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.E871K(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTCTTGCTGAGGAGAAGAG	0.398000													11	97					0	0	0.010729	0	0
RPA4	29935	broad.mit.edu	37	X	96139810	96139810	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:96139810G>T	ENST00000373040.3	+	1	904	c.501G>T	c.(499-501)atG>atT	p.M167I	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	167					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.M167I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CACACATGATGCTGGATAAAG	0.468000								Other identified genes with known or suspected DNA repair function					14	28					2.32078e-09	2.97834e-09	0.024245	1	0
ANKRD17	26057	broad.mit.edu	37	4	73956685	73956685	+	Silent	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:73956685T>C	ENST00000358602.4	-	29	6776	c.6660A>G	c.(6658-6660)ctA>ctG	p.L2220L	ANKRD17_ENST00000330838.6_Silent_p.L1969L|ANKRD17_ENST00000509867.2_Silent_p.L2107L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2220					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.L2220L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGTCGAAGGTAGCTGGACAG	0.453000													46	181					0	0	0.010771	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	35					0	0	0.009096	0	0
LEMD3	23592	broad.mit.edu	37	12	65564184	65564184	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:65564184G>A	ENST00000308330.2	+	1	834	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	LEMD3_ENST00000541171.1_3'UTR	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	270					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	p.A270T(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CGACGACGTGGCCTCCAGCAG	0.622000													7	19					0	0	0.029380	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													7	26					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141242964	141242964	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:141242964C>T	ENST00000389484.3	-	59	10344	c.9373G>A	c.(9373-9375)Gtt>Att	p.V3125I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3125					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V3125I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTGCTAACGAGTATAGTA	0.363000										TSP Lung(27;0.18)			4	71					0	0	0.014758	0	0
LRRC66	339977	broad.mit.edu	37	4	52860700	52860700	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:52860700G>C	ENST00000343457.3	-	4	2494	c.2488C>G	c.(2488-2490)Ctt>Gtt	p.L830V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	830						integral to membrane		p.L830V(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTGGATTGAAGAGCTGTGTCA	0.473000													8	49					0	0	0.004482	0	0
KIAA1109	84162	broad.mit.edu	37	4	123258169	123258169	+	Silent	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:123258169A>T	ENST00000264501.4	+	71	12517	c.12144A>T	c.(12142-12144)cgA>cgT	p.R4048R	KIAA1109_ENST00000388738.3_Silent_p.R4048R			Q2LD37	K1109_HUMAN	KIAA1109	4048					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R4048R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTATGTACGAGTTCAGGTGA	0.313000													33	56					0	0	0.021022	0	0
TMEM132E	124842	broad.mit.edu	37	17	32959769	32959769	+	Missense_Mutation	SNP	G	G	A	rs139895222		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr17:32959769G>A	ENST00000321639.5	+	7	1587	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	420						integral to membrane		p.R420Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AAAGAGTCTCGAGGGTCCATG	0.562000													12	61					0	0	0.013537	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731741	140731741	+	Silent	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:140731741G>T	ENST00000523390.1	+	1	1914	c.1914G>T	c.(1912-1914)ctG>ctT	p.L638L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.L638L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCGCCTGCTGGTCGCTG	0.687000													9	26					3.27435e-08	4.04479e-08	0.020292	1	0
ZC2HC1C	79696	broad.mit.edu	37	14	75538401	75538401	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:75538401C>T	ENST00000524913.1	+	2	1614	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	ZC2HC1C_ENST00000238686.8_Silent_p.D375D|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	0								p.D375D(1)									TGGCACCAGACTCCTCAGGTT	0.572000													3	33					0	0	0.004672	0	0
NALCN	259232	broad.mit.edu	37	13	101756965	101756965	+	Silent	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr13:101756965G>T	ENST00000251127.6	-	24	2754	c.2673C>A	c.(2671-2673)gtC>gtA	p.V891V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	891						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.V891V(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGATGATCATGACCCAGTCCA	0.458000													13	28					6.31663e-08	7.76139e-08	0.024245	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18524165	18524165	+	Silent	SNP	T	T	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:18524165T>A	ENST00000433979.1	+	12	1793	c.1677T>A	c.(1675-1677)acT>acA	p.T559T	PIK3C2G_ENST00000266497.5_Silent_p.T559T|PIK3C2G_ENST00000538779.1_Silent_p.T600T	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	559					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.T559T(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCATGCTCACTGTAAAACTGT	0.388000													5	22					0	0	0.014758	0	0
TRNT1	51095	broad.mit.edu	37	3	3188226	3188226	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:3188226G>C	ENST00000251607.6	+	6	823	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	TRNT1_ENST00000280591.6_Missense_Mutation_p.E241Q	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	241					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	p.E241Q(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GATTTGGGTGGAACTGAAAAA	0.378000													6	72					0	0	0.021553	0	0
CSMD3	114788	broad.mit.edu	37	8	113314099	113314099	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:113314099C>T	ENST00000297405.5	-	53	8607	c.8363G>A	c.(8362-8364)gGa>gAa	p.G2788E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2748E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2619E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2718E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2788	Sushi 17.					integral to membrane|plasma membrane		p.G2748E(1)|p.G2788E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGCATGAATCCCAAGTCGCA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	58					0	0	0.033300	0	0
POLL	27343	broad.mit.edu	37	10	103339273	103339273	+	Silent	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:103339273A>G	ENST00000370162.3	-	9	2159	c.1665T>C	c.(1663-1665)acT>acC	p.T555T	POLL_ENST00000370172.1_Silent_p.T467T|DPCD_ENST00000416979.2_Intron|POLL_ENST00000339310.3_Silent_p.T278T|POLL_ENST00000370169.1_Silent_p.T555T|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370168.3_Silent_p.T228T|POLL_ENST00000370158.3_Silent_p.T280T|POLL_ENST00000299206.4_Silent_p.T555T|POLL_ENST00000456836.2_Silent_p.T292T	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	555					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	p.T555T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CATCCTTCTCAGTGGGAGTGG	0.627000								DNA polymerases (catalytic subunits)					7	31					0	0	0.004482	0	0
HPSE	10855	broad.mit.edu	37	4	84216631	84216631	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:84216631G>A	ENST00000405413.2	-	13	1634	c.1498C>T	c.(1498-1500)Cta>Tta	p.L500L	HPSE_ENST00000512196.1_Silent_p.L426L|HPSE_ENST00000311412.5_Silent_p.L500L|HPSE_ENST00000513463.1_Silent_p.L442L	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	500					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	p.L500L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACCATCTTTAGAGTTAGACCA	0.443000													15	68					0	0	0.033300	0	0
XIRP2	129446	broad.mit.edu	37	2	168101882	168101882	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:168101882G>A	ENST00000409195.1	+	9	4069	c.3980G>A	c.(3979-3981)cGa>cAa	p.R1327Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1105Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1327Q|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1152					actin cytoskeleton organization	cell junction	actin binding	p.R1327Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTCAAGACCGAGAAGGGTCC	0.403000													6	57					0	0	0.029380	0	0
DENND4C	55667	broad.mit.edu	37	9	19346132	19346132	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr9:19346132T>C	ENST00000307015.9	+	19	2681	c.929T>C	c.(928-930)aTg>aCg	p.M310T	DENND4C_ENST00000540671.1_Missense_Mutation_p.M167T|DENND4C_ENST00000602925.1_Missense_Mutation_p.M1073T|DENND4C_ENST00000434457.2_Missense_Mutation_p.M1122T|DENND4C_ENST00000380432.2_Missense_Mutation_p.M837T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	837						integral to membrane		p.M837T(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCTATCATGATGGGAGCAGAT	0.408000													21	148					0	0	0.010504	0	0
C5orf42	65250	broad.mit.edu	37	5	37180987	37180987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:37180987G>A	ENST00000274258.7	-	27	5772	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	C5orf42_ENST00000508244.1_Nonsense_Mutation_p.Q1848*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1848*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1848								p.Q1848*(1)|p.Q729*(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATTTATTCTGACCATTTCTT	0.408000													9	67					0	0	0.006214	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138624	55138624	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:55138624G>C	ENST00000257290.5	+	9	1632	c.1301G>C	c.(1300-1302)aGg>aCg	p.R434T	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	434	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R434T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAGACGGTGAGGTGCACAGCT	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			16	67					0	0	0.033300	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811194	140811194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:140811194C>T	ENST00000252085.3	+	1	1010	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.Q290*(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCGGCCCAAGTTTTCAA	0.502000													10	78					0	0	0.006214	0	0
VWF	7450	broad.mit.edu	37	12	6131160	6131160	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:6131160C>T	ENST00000261405.5	-	27	3834	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1194	TIL 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.E1194K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGACAGTCTTCAGGGTCAACG	0.517000													22	187					0	0	0.014323	0	0
VCAN	1462	broad.mit.edu	37	5	82834300	82834300	+	Silent	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:82834300T>C	ENST00000265077.3	+	8	6043	c.5478T>C	c.(5476-5478)cgT>cgC	p.R1826R	VCAN_ENST00000343200.5_Silent_p.R839R|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1826	GAG-beta.		R -> H (in dbSNP:rs188703).		cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1826R(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTCTCCCACGTAGTCCTGCCT	0.483000													26	65					0	0	0.030593	0	0
ANKLE2	23141	broad.mit.edu	37	12	133324804	133324804	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:133324804C>T	ENST00000539605.1	-	3	7459	c.775G>A	c.(775-777)Gag>Aag	p.E259K	ANKLE2_ENST00000357997.5_Missense_Mutation_p.E321K|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E321K			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	321						cytoplasm|integral to membrane|nuclear envelope		p.E321K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTGTCCTCCTCTCCCTTCTCC	0.547000													5	24					0	0	0.021553	0	0
ZNF282	8427	broad.mit.edu	37	7	148895816	148895816	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:148895816C>A	ENST00000262085.3	+	2	662	c.557C>A	c.(556-558)cCc>cAc	p.P186H	ZNF282_ENST00000479907.1_Missense_Mutation_p.P186H	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	186					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P186H(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCGGCTGCCCCCGGGCAGC	0.602000													11	122					0.000219431	0.000237975	0.020292	1	0
CHL1	10752	broad.mit.edu	37	3	443339	443339	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:443339C>A	ENST00000256509.2	+	27	4058	c.3416C>A	c.(3415-3417)cCa>cAa	p.P1139Q	CHL1_ENST00000397491.2_Missense_Mutation_p.P1123Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1123					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P1139Q(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CATCCAGACCCAGAAATTCAG	0.323000													18	42					3.32936e-07	4.02661e-07	0.006122	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140615771	140615771	+	RNA	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:140615771G>T	ENST00000526308.1	+	0	1834					NR_001281.1													p.V496L(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGGTGCGCGTGCTGGTGCT	0.701000													16	39					2.31682e-05	2.63638e-05	0.024245	1	0
ADRBK1	156	broad.mit.edu	37	11	67049199	67049199	+	Splice_Site	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:67049199G>C	ENST00000308595.5	+	10	1116	c.826_splice	c.e10+1	p.G276_splice	ADRBK1_ENST00000526285.1_Splice_Site_p.G276_splice	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	276	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.?(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTCATGAACGGTGAGTGCTG	0.642000													7	39					0	0	0.029380	0	0
OTUD4	54726	broad.mit.edu	37	4	146059096	146059096	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:146059096C>T	ENST00000454497.2	-	21	2773	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.R944Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	943							protein binding	p.R878Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCTGCCTTTCGTGTCTGGGA	0.522000													26	120					0	0	0.009535	0	0
LAMP5	24141	broad.mit.edu	37	20	9498855	9498855	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:9498855C>T	ENST00000246070.2	+	5	1136	c.644C>T	c.(643-645)tCa>tTa	p.S215L	LAMP5_ENST00000427562.2_Missense_Mutation_p.S171L	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	215						integral to membrane		p.S215L(1)									GACATTATCTCAGATTTTGTC	0.493000													5	34					0	0	0.021553	0	0
PSMB11	122706	broad.mit.edu	37	14	23511887	23511887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:23511887C>A	ENST00000408907.2	+	1	512	c.453C>A	c.(451-453)tgC>tgA	p.C151*		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	151					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.C151*(3)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CTGCCCTCTGCGGCTGGGACC	0.622000													7	42					0.00198382	0.00211181	0.029380	1	0
SETBP1	26040	broad.mit.edu	37	18	42643042	42643042	+	Splice_Site	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr18:42643042A>T	ENST00000282030.5	+	6	4467		c.e6-1			NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							nucleus	DNA binding	p.?(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCTCCCGCAGTCGGCTCCT	0.512000									Schinzel-Giedion syndrome				7	23					0	0	0.010729	0	0
FBXO42	54455	broad.mit.edu	37	1	16632321	16632321	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:16632321G>C	ENST00000375592.3	-	3	560	c.344C>G	c.(343-345)cCa>cGa	p.P115R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	115								p.P115R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGAGTGATTGGGGTTCCAGG	0.463000													6	71					0	0	0.029380	0	0
RELN	5649	broad.mit.edu	37	7	103275985	103275985	+	Silent	SNP	C	C	A	rs148510862	byFrequency	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:103275985C>A	ENST00000424685.2	-	19	2511	c.2352G>T	c.(2350-2352)acG>acT	p.T784T	RELN_ENST00000428762.1_Silent_p.T784T|RELN_ENST00000343529.5_Silent_p.T784T			P78509	RELN_HUMAN	reelin	784					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.T784T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGCTCTGCACGTGCTCAGAA	0.393000													32	68					1.26612e-14	1.72043e-14	0.015359	1	0
WDR63	126820	broad.mit.edu	37	1	85561661	85561661	+	Silent	SNP	G	G	A	rs139599532		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:85561661G>A	ENST00000294664.6	+	11	1401	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	WDR63_ENST00000370596.1_Silent_p.P368P|WDR63_ENST00000326813.8_Silent_p.P368P	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	407								p.P407P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGTTCTGTCCGAGTGATCCTA	0.368000													11	125					0	0	0.010729	0	0
TRAM1	23471	broad.mit.edu	37	8	71520431	71520431	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:71520431C>T	ENST00000262213.2	-	1	173	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	2					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.A2T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTGCGAATCGCCATGGTGGGG	0.662000													30	69					0	0	0.013726	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625530	25625530	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr22:25625530G>C	ENST00000398215.2	+	5	605	c.434G>C	c.(433-435)cGg>cCg	p.R145P		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens	p.R145Q(1)|p.R145P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						TCATCTGTGCGGGTGCAGAGT	0.567000													4	16					0	0	0.021553	0	0
CLU	1191	broad.mit.edu	37	8	27464027	27464027	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:27464027C>A	ENST00000316403.10	-	4	666	c.261G>T	c.(259-261)gaG>gaT	p.E87D	CLU_ENST00000405140.3_Missense_Mutation_p.E87D|CLU_ENST00000560366.1_Missense_Mutation_p.E139D|CLU_ENST00000546343.1_Missense_Mutation_p.E98D|CLU_ENST00000523500.1_Missense_Mutation_p.E87D			P10909	CLUS_HUMAN	clusterin	87					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.E139D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATTCCCTGGTCTCATTTAGGG	0.562000													28	66					7.41945e-09	9.36554e-09	0.027356	1	0
HOXC11	3227	broad.mit.edu	37	12	54367216	54367216	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:54367216C>G	ENST00000546378.1	+	1	307	c.191C>G	c.(190-192)tCg>tGg	p.S64W	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S64W|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	64					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S64W(1)		large_intestine(1)|ovary(1)	2						TATCCCTACTCGGCCCAAGTG	0.632000			T	NUP98	AML								5	97					0	0	0.021553	0	0
TIMD4	91937	broad.mit.edu	37	5	156353318	156353318	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:156353318C>T	ENST00000274532.2	-	6	906	c.850G>A	c.(850-852)Gat>Aat	p.D284N	TIMD4_ENST00000406964.1_5'UTR|TIMD4_ENST00000407087.3_Missense_Mutation_p.D256N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	284						integral to membrane		p.D284N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGCTGTATCAGATGCTGGG	0.358000													6	60					0	0	0.021553	0	0
ATP11C	286410	broad.mit.edu	37	X	138844209	138844209	+	Nonsense_Mutation	SNP	T	T	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:138844209T>A	ENST00000370557.1	-	22	3569	c.2542A>T	c.(2542-2544)Aag>Tag	p.K848*	ATP11C_ENST00000370543.1_Nonsense_Mutation_p.K854*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.K854*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.K854*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.K854*|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	854					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K854*(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTTTAAACTTTGGAACAGAA	0.353000													115	69					0	0	0.014410	0	0
POU3F4	5456	broad.mit.edu	37	X	82763628	82763628	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:82763628C>A	ENST00000373200.2	+	1	360	c.296C>A	c.(295-297)cCa>cAa	p.P99Q	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	99					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.P99Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CACCGCTCGCCACACGTAGCC	0.667000													6	4					0.00116845	0.00126127	0.021553	1	0
FIGNL1	63979	broad.mit.edu	37	7	50513042	50513042	+	Silent	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:50513042A>G	ENST00000419119.1	-	2	3497	c.1944T>C	c.(1942-1944)ttT>ttC	p.F648F	FIGNL1_ENST00000395556.2_Silent_p.F648F|FIGNL1_ENST00000433017.1_Silent_p.F648F|FIGNL1_ENST00000356889.4_Silent_p.F648F			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	648					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.F648F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GCACAGTTCTAAAAGCATTTT	0.383000													15	73					0	0	0.028581	0	0
HYOU1	10525	broad.mit.edu	37	11	118925362	118925362	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:118925362G>C	ENST00000404233.3	-	7	646	c.522C>G	c.(520-522)atC>atG	p.I174M	HYOU1_ENST00000543287.1_Missense_Mutation_p.I87M|HYOU1_ENST00000525859.1_Missense_Mutation_p.I174M|HYOU1_ENST00000529972.1_Missense_Mutation_p.I174M	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	174						endoplasmic reticulum lumen	ATP binding|protein binding	p.I174M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGGCACGGTGATCACTGCAT	0.552000													4	37					0	0	0.009096	0	0
OR4M2	390538	broad.mit.edu	37	15	22369229	22369229	+	Silent	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:22369229T>C	ENST00000332663.2	+	1	752	c.654T>C	c.(652-654)taT>taC	p.Y218Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y218Y(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TAATGTCCTATGCCTTCCTTC	0.478000													19	195					0	0	0.006122	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209198190	209198190	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:209198190C>G	ENST00000264380.4	+	24	4273	c.4115C>G	c.(4114-4116)tCc>tGc	p.S1372C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1372					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.S1372C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CAGTATTTCTCCTATAACCAG	0.408000													11	30					0	0	0.013537	0	0
MPO	4353	broad.mit.edu	37	17	56356421	56356421	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr17:56356421C>G	ENST00000340482.3	-	5	1105	c.929G>C	c.(928-930)gGc>gCc	p.G310A	MPO_ENST00000225275.3_Missense_Mutation_p.G278A			P05164	PERM_HUMAN	myeloperoxidase	278					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.G278A(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAGTTGACGCCAGTGACGAA	0.657000													6	18					0	0	0.029380	0	0
COL6A5	256076	broad.mit.edu	37	3	130159053	130159053	+	Silent	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:130159053T>C	ENST00000265379.6	+	35	6365	c.5871T>C	c.(5869-5871)ccT>ccC	p.P1957P	COL6A5_ENST00000432398.2_Silent_p.P1957P			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1957	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen		p.P1957P(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTTTCTTACCTGAAGATTCAT	0.408000													3	41					0	0	0.009096	0	0
GRK4	2868	broad.mit.edu	37	4	3011428	3011428	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:3011428G>C	ENST00000398052.4	+	7	933	c.590G>C	c.(589-591)gGa>gCa	p.G197A	GRK4_ENST00000398051.4_Missense_Mutation_p.G165A|GRK4_ENST00000345167.6_Missense_Mutation_p.G165A|GRK4_ENST00000504933.1_Missense_Mutation_p.G197A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	197	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.G197A(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAAAAGGCGGATTTGGAGAG	0.463000													6	58					0	0	0.003080	0	0
CDK18	5129	broad.mit.edu	37	1	205496951	205496951	+	Silent	SNP	C	C	T	rs139419406	byFrequency	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:205496951C>T	ENST00000360066.2	+	9	1060	c.759C>T	c.(757-759)ctC>ctT	p.L253L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L253L|CDK18_ENST00000506784.1_Silent_p.L283L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	251	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.L283L(2)|p.L253L(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TCCGGGGCCTCGCCTACTGTC	0.622000													7	69					0	0	0.003080	0	0
TFEC	22797	broad.mit.edu	37	7	115624414	115624414	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:115624414G>T	ENST00000265440.7	-	2	262	c.82C>A	c.(82-84)Cat>Aat	p.H28N	TFEC_ENST00000393485.1_Missense_Mutation_p.H28N|TFEC_ENST00000484212.1_Missense_Mutation_p.H118N|TFEC_ENST00000320239.7_Missense_Mutation_p.H28N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	28	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.H28N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGTGTGCATGCTGCACAAGA	0.458000													37	136					1.26612e-14	1.72043e-14	0.015359	1	0
KDSR	2531	broad.mit.edu	37	18	61002580	61002580	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr18:61002580G>C	ENST00000406396.3	-	9	1180	c.789C>G	c.(787-789)ttC>ttG	p.F263L	KDSR_ENST00000326575.5_Missense_Mutation_p.F199L|KDSR_ENST00000589592.1_5'UTR	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	263					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	p.F263L(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GGGAACTGTTGAAATTTCCTT	0.478000													5	31					0	0	0.014758	0	0
SMG5	23381	broad.mit.edu	37	1	156238164	156238164	+	Silent	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:156238164G>C	ENST00000361813.5	-	8	900	c.756C>G	c.(754-756)ctC>ctG	p.L252L	SMG5_ENST00000368267.4_Silent_p.L252L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	252					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.L252L(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACAGCCGCTTGAGGTTCCCAT	0.517000													10	209					0	0	0.008291	0	0
PTK6	5753	broad.mit.edu	37	20	62164021	62164021	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:62164021C>T	ENST00000217185.2	-	5	717	c.690G>A	c.(688-690)caG>caA	p.Q230Q	PTK6_ENST00000542869.1_Silent_p.Q129Q	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	230	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q230Q(1)		endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACTGCAGCATCTGCTGGTGCA	0.657000													5	50					0	0	0.014758	0	0
POLM	27434	broad.mit.edu	37	7	44113229	44113229	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:44113229C>T	ENST00000242248.5	-	10	1494	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	POLM_ENST00000335195.6_Missense_Mutation_p.E428K|POLM_ENST00000395831.3_Missense_Mutation_p.E385K	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	465					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.E465K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TGTACCTGCTCCGGGTCAAAC	0.602000								DNA polymerases (catalytic subunits)					20	90					0	0	0.018920	0	0
CCNJL	79616	broad.mit.edu	37	5	159680453	159680453	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:159680453C>A	ENST00000393977.3	-	7	1525	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.A366S	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	414						nucleus		p.A414S(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGTGGTGGCGAGGCAGTGC	0.602000													6	36					3.59834e-05	4.03503e-05	0.021553	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291447	141291447	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:141291447C>G	ENST00000247452.3	-	3	674	c.327G>C	c.(325-327)tgG>tgC	p.W109C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	109	Ser-rich.					cytoplasm|nucleus		p.W109C(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATGAGCTCCATGAAAAAG	0.537000										HNSCC(46;0.14)			26	38					0	0	0.024334	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605270	13605270	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:13605270C>A	ENST00000040738.5	-	10	3389	c.3254G>T	c.(3253-3255)gGa>gTa	p.G1085V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1085							DNA binding	p.G1085V(1)									TTTTTCTTCTCCTTTGGCCAT	0.428000													13	48					1.5842e-08	1.98886e-08	0.016723	1	0
C17orf53	78995	broad.mit.edu	37	17	42226180	42226180	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr17:42226180C>T	ENST00000319977.4	+	3	1246	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	C17orf53_ENST00000585683.1_Missense_Mutation_p.R337W|C17orf53_ENST00000245382.6_Missense_Mutation_p.R337W	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	337								p.R337W(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTATTTCCTCGGATACCCTT	0.512000													13	249					0	0	0.020292	0	0
RPSA	3921	broad.mit.edu	37	3	39452305	39452305	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:39452305C>A	ENST00000301821.6	+	4	422	c.313C>A	c.(313-315)Cct>Act	p.P105T	RPSA_ENST00000443003.1_Missense_Mutation_p.P110T|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	105	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.P105T(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CCGCTTCACTCCTGGAACCTT	0.547000													22	24					1.61788e-16	2.25139e-16	0.012213	1	0
CYP2C9	1559	broad.mit.edu	37	10	96745844	96745844	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:96745844C>T	ENST00000260682.6	+	8	1216	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	402					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.P402S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CAAAGAATTTCCCAACCCAGA	0.378000													41	67					0	0	0.030466	0	0
NCAPD3	23310	broad.mit.edu	37	11	134062726	134062726	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:134062726C>A	ENST00000534548.2	-	16	1967	c.1903G>T	c.(1903-1905)Gtg>Ttg	p.V635L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	635					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.V635L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTCCTGCACAGTGCTCTCG	0.587000													17	53					5.03518e-11	6.64644e-11	0.007413	1	0
HERC2	8924	broad.mit.edu	37	15	28377245	28377245	+	Splice_Site	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:28377245C>T	ENST00000261609.7	-	81	12679		c.e81+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGGGAAATACCTTCATAGGC	0.617000													4	9					0	0	0.009096	0	0
ABCG4	64137	broad.mit.edu	37	11	119031707	119031707	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:119031707T>A	ENST00000307417.3	+	15	2196	c.1832T>A	c.(1831-1833)gTg>gAg	p.V611E	ABCG4_ENST00000531739.1_Missense_Mutation_p.V611E|ABCG4_ENST00000449422.2_Missense_Mutation_p.V611E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	611	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.V611E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCGCTGGATGTGGAGGATGCC	0.582000													9	29					0	0	0.004482	0	0
MS4A4A	51338	broad.mit.edu	37	11	60073663	60073663	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:60073663A>T	ENST00000355131.3	+	7	803	c.580A>T	c.(580-582)Acc>Tcc	p.T194S	MS4A4A_ENST00000532114.1_Missense_Mutation_p.T160S|MS4A4A_ENST00000395016.3_Missense_Mutation_p.T194S|MS4A4A_ENST00000337908.4_Missense_Mutation_p.T213S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	213						integral to membrane	receptor activity	p.T194S(1)|p.T213S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCTCTGTTGTACCCCTGGTGG	0.453000													26	44					0	0	0.037714	0	0
DPH6	89978	broad.mit.edu	37	15	35747012	35747012	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:35747012C>T	ENST00000256538.4	-	4	348	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6									p.E108K(1)									CCCTCTACTTCTTCTTTTTCC	0.303000													8	42					0	0	0.004482	0	0
RPIA	22934	broad.mit.edu	37	2	89036090	89036090	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:89036090G>T	ENST00000283646.4	+	7	690	c.635G>T	c.(634-636)gGa>gTa	p.G212V		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	212					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.G212V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGGCACAAGGGAATCCCCATC	0.488000													24	47					2.27525e-19	3.20478e-19	0.021523	1	0
SEMA6D	80031	broad.mit.edu	37	15	48058843	48058843	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:48058843C>T	ENST00000316364.5	+	16	2116	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	SEMA6D_ENST00000558816.1_Silent_p.F559F|SEMA6D_ENST00000389433.2_Silent_p.F559F|SEMA6D_ENST00000389428.3_Silent_p.F559F|SEMA6D_ENST00000537942.1_Silent_p.F572F|SEMA6D_ENST00000558014.1_Silent_p.F572F|SEMA6D_ENST00000354744.4_Silent_p.F559F|SEMA6D_ENST00000355997.3_Silent_p.F559F|SEMA6D_ENST00000536845.2_Silent_p.F559F|SEMA6D_ENST00000389432.2_Silent_p.F572F|SEMA6D_ENST00000358066.4_Silent_p.F572F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	559	PSI.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.F559F(1)|p.F572F(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACACAGAATTCGGCAACACAG	0.443000													8	20					0	0	0.003080	0	0
PITHD1	57095	broad.mit.edu	37	1	24112241	24112241	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:24112241C>G	ENST00000246151.4	+	4	508	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V	PITHD1_ENST00000374524.1_Missense_Mutation_p.L20V	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	133	PITH.							p.L133V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GAACCGGGATCTTACAGGAGA	0.428000													7	50					0	0	0.029380	0	0
ZNF248	57209	broad.mit.edu	37	10	38121742	38121742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:38121742C>A	ENST00000395867.3	-	6	1091	c.541G>T	c.(541-543)Gag>Tag	p.E181*	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Nonsense_Mutation_p.E181*|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E181*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GGGATTTTCTCATGCCTAATA	0.338000													18	75					2.37509e-13	3.17137e-13	0.010504	1	0
NCAM1	4684	broad.mit.edu	37	11	113076267	113076267	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:113076267G>A	ENST00000316851.7	+	3	339	c.339G>A	c.(337-339)gcG>gcA	p.A113A	NCAM1_ENST00000401611.2_Silent_p.A122A|NCAM1_ENST00000533760.1_Silent_p.A5A|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	123					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.A122A(2)|p.A113A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCAAGAATGCGCCAACCCCAC	0.522000													12	39					0	0	0.013537	0	0
AHR	196	broad.mit.edu	37	7	17379714	17379714	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:17379714G>C	ENST00000242057.4	+	10	2908	c.2265G>C	c.(2263-2265)caG>caC	p.Q755H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	755					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q755H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TAAATCCACAGTCAGCCATAA	0.458000													55	111					0	0	0.014410	0	0
TEX10	54881	broad.mit.edu	37	9	103102556	103102556	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr9:103102556C>A	ENST00000374902.4	-	5	1409	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	TEX10_ENST00000537512.1_Missense_Mutation_p.R346S|TEX10_ENST00000535814.1_Missense_Mutation_p.R414S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	411				R -> G (in Ref. 5; AAH30652).		integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.R411S(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTGGCTCTTTCCTTTTGTGCT	0.303000													6	136					5.9392e-07	7.1456e-07	0.021553	1	0
PLAUR	5329	broad.mit.edu	37	19	44160780	44160780	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:44160780G>A	ENST00000221264.4	-	4	749	c.323C>T	c.(322-324)aCc>aTc	p.T108I	PLAUR_ENST00000340093.3_Missense_Mutation_p.T108I|PLAUR_ENST00000339082.3_Missense_Mutation_p.T108I|PLAUR_ENST00000601723.1_Missense_Mutation_p.T108I	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	108	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	p.T108I(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCGGGAATAGGTGACAGCCCG	0.587000													8	27					0	0	0.003080	0	0
MCTP2	55784	broad.mit.edu	37	15	94983439	94983439	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:94983439A>G	ENST00000357742.4	+	17	2120	c.2120A>G	c.(2119-2121)tAt>tGt	p.Y707C	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	707					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.Y707C(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTGAACTATATATGATCCCC	0.403000													26	174					0	0	0.027356	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834891	74834891	+	Splice_Site	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:74834891G>T	ENST00000370895.1	+	17	1753	c.1717_splice	c.e17-1	p.G573_splice	FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.G573_splice|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Splice_Site_p.G472_splice|TNNI3K_ENST00000370891.2_Splice_Site_p.G573_splice|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G573_splice			Q59H18	TNI3K_HUMAN		472	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.G472V(1)									ACAATTGTAGGTTCTTTTGGG	0.289000													5	34					2.7689e-08	3.43879e-08	0.029380	1	0
RIMS2	9699	broad.mit.edu	37	8	105261015	105261015	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:105261015G>T	ENST00000507740.1	+	19	3241	c.3005G>T	c.(3004-3006)cGc>cTc	p.R1002L	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188L|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124L|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1206L|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R1002H(2)|p.R1002L(2)|p.R1206L(1)|p.R1206H(1)|p.R1188L(1)|p.R1188H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGTGGGACGCCAGACTCTG	0.428000										HNSCC(12;0.0054)			27	49					3.96558e-24	5.61994e-24	0.024334	1	0
OR52B2	255725	broad.mit.edu	37	11	6191452	6191452	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:6191452G>A	ENST00000530810.1	-	1	186	c.105C>T	c.(103-105)ctC>ctT	p.L35L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L35L(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGTAAATGAGGCAAAGAG	0.463000													5	64					0	0	0.014758	0	0
TNRC6A	27327	broad.mit.edu	37	16	24828156	24828156	+	Silent	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:24828156A>G	ENST00000395799.3	+	20	4980	c.4851A>G	c.(4849-4851)ccA>ccG	p.P1617P	TNRC6A_ENST00000315183.7_Silent_p.P1568P|TNRC6A_ENST00000432286.2_Silent_p.P95P|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1617					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.P1617P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTGGTGAGCCATGGAAAGGTT	0.363000													26	86					0	0	0.037714	0	0
MTFMT	123263	broad.mit.edu	37	15	65308840	65308840	+	Silent	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:65308840A>G	ENST00000220058.4	-	6	760	c.747T>C	c.(745-747)agT>agC	p.S249S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	249						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	p.S249S(2)		endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATTTTATACAACTGGTACCAG	0.388000													13	93					0	0	0.020292	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410668	105410668	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:105410668G>A	ENST00000333244.5	-	7	11239	c.11120C>T	c.(11119-11121)cCg>cTg	p.P3707L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3707						nucleus		p.P3707L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGCCCTCCGGGAGCTTCAC	0.637000													26	135					0	0	0.024334	0	0
FANCM	57697	broad.mit.edu	37	14	45653004	45653004	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:45653004G>C	ENST00000267430.5	+	17	4499	c.4414G>C	c.(4414-4416)Gag>Cag	p.E1472Q	FANCM_ENST00000542564.2_Missense_Mutation_p.E1446Q|FANCM_ENST00000555013.1_3'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1472					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.E1472Q(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGATGAGAGTGAGAATTTTCC	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	29					0	0	0.021553	0	0
FLRT2	23768	broad.mit.edu	37	14	86088908	86088908	+	Silent	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:86088908C>G	ENST00000330753.4	+	2	1817	c.1050C>G	c.(1048-1050)gtC>gtG	p.V350V	FLRT2_ENST00000554746.1_Silent_p.V350V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	350	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.V350V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGATGGCCGTCAGGGAATTAA	0.532000													19	91					0	0	0.010504	0	0
OR52E6	390078	broad.mit.edu	37	11	5862769	5862769	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:5862769A>T	ENST00000329322.5	-	1	358	c.359T>A	c.(358-360)aTg>aAg	p.M120K	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.M124K	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M124K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAAAGGCCATGGCCACCAA	0.453000													45	82					0	0	0.011902	0	0
LPIN2	9663	broad.mit.edu	37	18	2922166	2922166	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr18:2922166G>T	ENST00000261596.4	-	17	2444	c.2206C>A	c.(2206-2208)Cgt>Agt	p.R736S		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	736	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	p.R736S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCGATGGCACGAGCCGAGCAG	0.527000													8	14					2.17888e-05	2.49169e-05	0.006214	1	0
PCDH1	5097	broad.mit.edu	37	5	141248314	141248314	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:141248314C>A	ENST00000287008.3	-	2	870	c.723G>T	c.(721-723)gaG>gaT	p.E241D	PCDH1_ENST00000503492.1_Missense_Mutation_p.E241D|PCDH1_ENST00000456271.1_Missense_Mutation_p.E229D|PCDH1_ENST00000536585.1_Missense_Mutation_p.E219D|PCDH1_ENST00000394536.3_Missense_Mutation_p.E241D	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	241	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.E241D(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGTCCCAGCGCTCACGGTCCA	0.632000													7	28					0.0293803	0.0305714	0.029380	1	0
MUC16	94025	broad.mit.edu	37	19	8971681	8971681	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:8971681A>T	ENST00000397910.4	-	78	43114	c.42911T>A	c.(42910-42912)gTg>gAg	p.V14304E	MUC16_ENST00000380951.5_Missense_Mutation_p.V945E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14399	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V14304E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTACCTGTCACATGGATGTC	0.527000													7	30					0	0	0.004482	0	0
GLS	2744	broad.mit.edu	37	2	191769787	191769787	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:191769787G>C	ENST00000320717.3	+	6	1131	c.873G>C	c.(871-873)ttG>ttC	p.L291F	GLS_ENST00000338435.4_Missense_Mutation_p.L291F	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	291					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	p.L291F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAAACCTTTGAAATATGCCA	0.348000													5	56					0	0	0.021553	0	0
FAM174A	345757	broad.mit.edu	37	5	99871346	99871346	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:99871346G>A	ENST00000312637.4	+	1	338	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	38						integral to membrane		p.E38K(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCAGGCAGCCGAGGCCGCGCC	0.692000													4	28					0	0	0.014758	0	0
CIT	11113	broad.mit.edu	37	12	120142201	120142201	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:120142201G>A	ENST00000392521.2	-	41	5326	c.5271C>T	c.(5269-5271)taC>taT	p.Y1757Y	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.Y1715Y	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1715	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.Y1743Y(1)|p.Y1715Y(1)|p.Y1757Y(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGTTTTCGTTGTAGCGGAGAA	0.507000													6	39					0	0	0.029380	0	0
ZBTB8OS	339487	broad.mit.edu	37	1	33116092	33116092	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:33116092C>G	ENST00000468695.1	-	1	93	c.75G>C	c.(73-75)ttG>ttC	p.L25F	ZBTB8OS_ENST00000341885.5_Missense_Mutation_p.L25F|ZBTB8OS_ENST00000492007.1_5'UTR|ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.L13F	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	13								p.L25F(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTTCTTCAGTCAAATTGTAAT	0.483000													6	99					0	0	0.021553	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022666	58022666	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:58022666G>A	ENST00000341156.4	-	8	1416	c.832C>T	c.(832-834)Cta>Tta	p.L278L	B4GALNT1_ENST00000449184.3_Silent_p.L245L|B4GALNT1_ENST00000418555.2_Silent_p.L223L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	278					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.L278L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATCGTGACTAGAGCGCTGATG	0.577000													9	42					0	0	0.010729	0	0
ANKRD1	27063	broad.mit.edu	37	10	92680017	92680017	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:92680017A>G	ENST00000371697.3	-	2	364	c.116T>C	c.(115-117)tTa>tCa	p.L39S		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	39					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.L39S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTGCTTCTCTAAAGTAACAGC	0.517000													77	117					0	0	0.014410	0	0
CTCFL	140690	broad.mit.edu	37	20	56089731	56089731	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:56089731T>C	ENST00000426658.2	-	6	1908	c.1247A>G	c.(1246-1248)cAt>cGt	p.H416R	CTCFL_ENST00000433949.2_Missense_Mutation_p.H416R|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000429804.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.H416R|CTCFL_ENST00000422869.2_Missense_Mutation_p.H416R|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000539382.1_Missense_Mutation_p.H211R|CTCFL_ENST00000502686.2_Missense_Mutation_p.H154R|CTCFL_ENST00000423479.2_Missense_Mutation_p.H416R|CTCFL_ENST00000371196.2_Missense_Mutation_p.H416R			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	416					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.H416R(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTGCAGAATATGTATTTTCAT	0.507000											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	118					0	0	0.006214	0	0
ADD3	120	broad.mit.edu	37	10	111872541	111872541	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:111872541C>T	ENST00000277900.8	+	3	567	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	ADD3_ENST00000356080.4_Missense_Mutation_p.R68W|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.R68W	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	68						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.R68W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACAGGCCTTTCGGGAAGACTT	0.413000													17	77					0	0	0.008871	0	0
ACSM5	54988	broad.mit.edu	37	16	20448451	20448451	+	Missense_Mutation	SNP	T	T	A	rs147520476	byFrequency	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:20448451T>A	ENST00000331849.4	+	11	1533	c.1386T>A	c.(1384-1386)gaT>gaA	p.D462E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	462					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.D462E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGACAAGGATGGCTACTTTT	0.473000													31	106					0	0	0.015359	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625531	25625531	+	Silent	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr22:25625531G>T	ENST00000398215.2	+	5	606	c.435G>T	c.(433-435)cgG>cgT	p.R145R		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens	p.R145P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CATCTGTGCGGGTGCAGAGTG	0.572000													4	15					3.59834e-05	4.03503e-05	0.021553	1	0
ELOVL2	54898	broad.mit.edu	37	6	11005676	11005676	+	Missense_Mutation	SNP	G	G	A	rs35925595	byFrequency	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:11005676G>A	ENST00000354666.3	-	3	267	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	62					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.L62F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CTGAGAGAAAGAGCAGGTCTG	0.433000													4	56					0	0	0.014758	0	0
MGAT1	4245	broad.mit.edu	37	5	180219003	180219003	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:180219003C>A	ENST00000446023.2	-	3	1719	c.969G>T	c.(967-969)caG>caT	p.Q323H	MGAT1_ENST00000307826.4_Missense_Mutation_p.Q323H|MGAT1_ENST00000333055.3_Missense_Mutation_p.Q323H|MGAT1_ENST00000393340.3_Missense_Mutation_p.Q323H|MGAT1_ENST00000427865.2_Missense_Mutation_p.Q323H	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	323					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.Q323H(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCAAAGAACTGCCCGTGGC	0.602000													13	32					7.93312e-07	9.3977e-07	0.020292	1	0
MUC7	4589	broad.mit.edu	37	4	71347553	71347553	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:71347553G>T	ENST00000413702.1	+	4	1380	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N	MUC7_ENST00000304887.5_Missense_Mutation_p.K364N|MUC7_ENST00000456088.1_Missense_Mutation_p.K364N	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	364						extracellular region	protein binding	p.K364N(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TATATATGAAGAATCTACTAA	0.343000													8	69					5.18039e-06	5.95358e-06	0.003080	1	0
DCHS2	54798	broad.mit.edu	37	4	155256122	155256122	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:155256122G>C	ENST00000357232.3	-	8	1113	c.1114C>G	c.(1114-1116)Ctg>Gtg	p.L372V	DCHS2_ENST00000339452.1_Missense_Mutation_p.L871V|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	372	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L372V(1)|p.L871V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGGTGCCAGAGTTGTCTGG	0.463000													27	51					0	0	0.024334	0	0
ADRBK1	156	broad.mit.edu	37	11	67049200	67049200	+	Splice_Site	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:67049200G>A	ENST00000308595.5	+	10	1116		c.e10+1		ADRBK1_ENST00000526285.1_Splice_Site	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1						activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.?(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTCATGAACGGTGAGTGCTGG	0.642000													7	39					0	0	0.029380	0	0
POF1B	79983	broad.mit.edu	37	X	84560871	84560871	+	Missense_Mutation	SNP	C	C	T	rs150903638		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:84560871C>T	ENST00000262753.4	-	13	1508	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	POF1B_ENST00000373145.3_Missense_Mutation_p.E455K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	455							actin binding	p.E455K(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTGCCAATCTCATCCATTTTA	0.388000													10	37					0	0	0.008291	0	0
GBP1P1	400759	broad.mit.edu	37	1	89890089	89890089	+	RNA	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:89890089G>A	ENST00000513638.1	+	0	830					NR_003133.2																						TACTGTGGCAGAGAGAACATG	0.478000													3	26					0	0	0.004672	0	0
NLRP9	338321	broad.mit.edu	37	19	56244284	56244284	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:56244284A>T	ENST00000332836.2	-	2	940	c.913T>A	c.(913-915)Tcg>Acg	p.S305T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT.					cytoplasm	ATP binding	p.S305T(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGAAATACGACTTCTTTTCA	0.388000													25	69					0	0	0.030593	0	0
OR9G4	283189	broad.mit.edu	37	11	56510970	56510970	+	Silent	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:56510970G>C	ENST00000302957.3	-	1	317	c.318C>G	c.(316-318)cgC>cgG	p.R106R		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R106R(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAGGAAATGCGCTTATCTT	0.463000													27	68					0	0	0.021523	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747973	41747973	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:41747973C>T	ENST00000226382.2	-	3	1155	c.796G>A	c.(796-798)Gct>Act	p.A266T		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	266					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A266T(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGGCCCCCAGCCGCAGCCAGG	0.771000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	7					0	0	0.009096	0	0
GALE	2582	broad.mit.edu	37	1	24125393	24125393	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:24125393G>C	ENST00000374497.3	-	3	196	c.105C>G	c.(103-105)ttC>ttG	p.F35L	GALE_ENST00000470383.1_5'UTR	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	35					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	p.F35L(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGGCATTATGGAAGTTATCGA	0.612000													23	59					0	0	0.018920	0	0
OPRM1	4988	broad.mit.edu	37	6	154412465	154412465	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:154412465T>A	ENST00000414028.2	+	3	1072	c.1022T>A	c.(1021-1023)cTg>cAg	p.L341Q	OPRM1_ENST00000435918.2_Missense_Mutation_p.L341Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.L341Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.L341Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.L341Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.L260Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.L241Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.L341Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.L241Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.L241Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.L341Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.L434Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.L341Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.L341Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.L341Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	341					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.L341Q(2)|p.L434Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TATGCATTTCTGGATGAAAAC	0.438000													33	122					0	0	0.019004	0	0
MUC5B	727897	broad.mit.edu	37	11	1268963	1268963	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:1268963G>C	ENST00000447027.1	+	31	10920	c.10862G>C	c.(10861-10863)cGt>cCt	p.R3621P	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3618P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3618	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R3597P(1)|p.R3618P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGAGTGCCGTGCCCAGGCC	0.687000													21	30					0	0	0.021523	0	0
ACACB	32	broad.mit.edu	37	12	109678885	109678885	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:109678885C>T	ENST00000338432.7	+	36	4940	c.4821C>T	c.(4819-4821)atC>atT	p.I1607I	ACACB_ENST00000377848.3_Silent_p.I1607I|ACACB_ENST00000377854.5_Silent_p.I1537I|ACACB_ENST00000543201.1_Silent_p.I273I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1607					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.I1607I(1)|p.I273I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGGGCAGATCGAGGAGTCCG	0.512000													13	44					0	0	0.020292	0	0
PCLO	27445	broad.mit.edu	37	7	82580373	82580373	+	Silent	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:82580373C>A	ENST00000423517.2	-	6	9868	c.9531G>T	c.(9529-9531)acG>acT	p.T3177T	PCLO_ENST00000333891.8_Silent_p.T3177T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3108	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T3177T(2)|p.T3108T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAGTCTATCGTCTCAGCAG	0.413000													7	40					5.4927e-09	6.97151e-09	0.004482	1	0
GML	2765	broad.mit.edu	37	8	143921919	143921919	+	Silent	SNP	C	C	A	rs138131984	byFrequency	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:143921919C>A	ENST00000220940.1	+	2	156	c.66C>A	c.(64-66)cgC>cgA	p.R22R		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	22					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.R22R(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCACCATGCGCGCTCAGTGTA	0.572000													14	23					4.7546e-09	6.06803e-09	0.028581	1	0
IL9R	3581	broad.mit.edu	37	X	155233498	155233498	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:155233498G>T	ENST00000369423.2	+	5	583	c.545G>T	c.(544-546)cGg>cTg	p.R182L	IL9R_ENST00000424344.3_Silent_p.P116P|IL9R_ENST00000244174.5_Silent_p.P137P|IL9R_ENST00000540897.1_Missense_Mutation_p.R172L			Q01113	IL9R_HUMAN	interleukin 9 receptor	146	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.P137P(1)		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)					TGGTGGACCCGGAGTACCTGC	0.622000													5	28					3.59834e-05	4.03503e-05	0.021553	1	0
MDH2	4191	broad.mit.edu	37	7	75686766	75686766	+	Missense_Mutation	SNP	G	G	T	rs145477708		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:75686766G>T	ENST00000315758.5	+	3	368	c.274G>T	c.(274-276)Ggt>Tgt	p.G92C	MDH2_ENST00000443006.1_5'UTR|MDH2_ENST00000432020.2_Missense_Mutation_p.G92C	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	92					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	p.G92C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CTGCCTGAAAGGTTGTGATGT	0.502000													11	67					3.07112e-06	3.56497e-06	0.010729	1	0
TMTC1	83857	broad.mit.edu	37	12	29673649	29673649	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:29673649C>T	ENST00000256062.5	-	12	1939	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	TMTC1_ENST00000551659.1_Missense_Mutation_p.R659Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621Q|TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Missense_Mutation_p.R597Q	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	597						integral to membrane	binding	p.R489Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTTTAAACCGCTCCTTTAA	0.318000													5	70					0	0	0.014758	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234273	54234273	+	RNA	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:54234273C>A	ENST00000385068.1	+	0	14					NR_030210.1																						CAAGCTGTGACTGCAAAGGGA	0.433000													27	127					8.4185e-14	1.13724e-13	0.012213	1	0
KIAA0754	643314	broad.mit.edu	37	1	39877402	39877402	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:39877402C>G	ENST00000530275.1	+	1	1252	c.1057C>G	c.(1057-1059)Caa>Gaa	p.Q353E	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	353										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTACAGAATCAAATCTCTTC	0.423000													3	55					0	0	0.004672	0	0
MMP25	64386	broad.mit.edu	37	16	3108181	3108181	+	Splice_Site	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:3108181G>A	ENST00000336577.4	+	8	1243		c.e8-1		RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25						inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GTCCCCTGCAGGCCCCTGGTT	0.687000													7	26					0	0	0.004482	0	0
OR4C12	283093	broad.mit.edu	37	11	50003538	50003538	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:50003538C>A	ENST00000335238.4	-	1	533	c.500G>T	c.(499-501)tGt>tTt	p.C167F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C167L(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTGGGGCCACAGAAGGGCAG	0.478000													42	72					9.9191e-30	1.41439e-29	0.033182	1	0
MLLT3	4300	broad.mit.edu	37	9	20414405	20414405	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr9:20414405G>A	ENST00000380338.4	-	5	725	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H144Y	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.H147Y(1)		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)		ctgctgGTATGAATACTCCTA	0.488000			T	MLL	ALL								4	24					0	0	0.014758	0	0
ITGA6	3655	broad.mit.edu	37	2	173338872	173338872	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:173338872G>A	ENST00000375221.2	+	7	1185	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	ITGA6_ENST00000264107.7_Missense_Mutation_p.V289M|ITGA6_ENST00000409532.1_Missense_Mutation_p.V170M|ITGA6_ENST00000343713.4_Missense_Mutation_p.V284M|ITGA6_ENST00000409080.1_Missense_Mutation_p.V289M|ITGA6_ENST00000264106.6_Missense_Mutation_p.V328M			P23229	ITA6_HUMAN	integrin, alpha 6	328					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.V289M(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAGTGGAGCCGTGGTTTTGCT	0.458000													3	43					0	0	0.004672	0	0
MKKS	8195	broad.mit.edu	37	20	10393428	10393428	+	Silent	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:10393428A>G	ENST00000347364.2	-	3	1497	c.735T>C	c.(733-735)tgT>tgC	p.C245C		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	245	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	p.C245C(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATAAAGTTGTACAAAAGAGTG	0.428000													3	62					0	0	0.004672	0	0
MYD88	4615	broad.mit.edu	37	3	38181459	38181459	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:38181459G>A	ENST00000417037.2	+	2	656	c.472G>A	c.(472-474)Gcg>Acg	p.A158T	MYD88_ENST00000495303.1_Intron|MYD88_ENST00000443433.2_Missense_Mutation_p.A158T|MYD88_ENST00000424893.1_Intron|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Missense_Mutation_p.A158T	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	145					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	p.A158T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCAGAGCTGGCGGGCATCAC	0.537000			Mis		ABC-DLBCL								11	8					0	0	0.008291	0	0
RRAS	6237	broad.mit.edu	37	19	50140165	50140165	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:50140165T>A	ENST00000246792.3	-	3	362	c.260A>T	c.(259-261)cAg>cTg	p.Q87L		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	87					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	p.Q87L(1)		endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GAACTCTTCCTGGCCCGCGGT	0.657000													15	27					0	0	0.020292	0	0
FABP12	646486	broad.mit.edu	37	8	82441712	82441712	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:82441712T>G	ENST00000360464.4	-	2	269	c.207A>C	c.(205-207)gaA>gaC	p.E69D	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	69							lipid binding|transporter activity	p.E69D(2)		large_intestine(1)|lung(3)	4						CCTCAAACTCTTCTCCCAGCT	0.408000													49	122					0	0	0.014410	0	0
SEMA6B	10501	broad.mit.edu	37	19	4557219	4557219	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:4557219C>T	ENST00000586582.1	-	4	572	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SEMA6B_ENST00000586965.1_Missense_Mutation_p.V88I|SEMA6B_ENST00000301293.3_Missense_Mutation_p.V88I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	88	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.V88I(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTCTACGCGGTAGAGG	0.662000													5	7					0	0	0.029380	0	0
DZIP3	9666	broad.mit.edu	37	3	108403121	108403121	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:108403121C>T	ENST00000361582.3	+	27	3172	c.2942C>T	c.(2941-2943)aCt>aTt	p.T981I	DZIP3_ENST00000463306.1_Missense_Mutation_p.T981I	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	981					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.T981I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCCATACTTACTGTTCCTCAA	0.428000													108	130					0	0	0.014410	0	0
XRCC6	2547	broad.mit.edu	37	22	42042935	42042935	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr22:42042935C>G	ENST00000359308.4	+	6	1464	c.809C>G	c.(808-810)tCt>tGt	p.S270C	XRCC6_ENST00000405878.1_Missense_Mutation_p.S270C|XRCC6_ENST00000360079.3_Missense_Mutation_p.S270C|XRCC6_ENST00000405506.1_Missense_Mutation_p.S220C|XRCC6_ENST00000428575.2_Missense_Mutation_p.S137C|XRCC6_ENST00000402580.3_Missense_Mutation_p.S229C			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	270	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	p.S270C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGTGATCTCTGTGGGCATT	0.408000								Non-homologous end-joining					19	159					0	0	0.008871	0	0
ZNF831	128611	broad.mit.edu	37	20	57767422	57767422	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:57767422G>T	ENST00000371030.2	+	1	1348	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	450						intracellular	nucleic acid binding|zinc ion binding	p.D450Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACCTACAAGGACTCCTTCCA	0.692000													7	18					5.18039e-06	5.95358e-06	0.003080	1	0
SESTD1	91404	broad.mit.edu	37	2	179974756	179974756	+	Splice_Site	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:179974756C>G	ENST00000428443.3	-	18	2278		c.e18-1			NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1						regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.?(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTGTTCGGTTCTAAAAATCAA	0.338000													11	54					0	0	0.016723	0	0
OPTC	26254	broad.mit.edu	37	1	203465262	203465262	+	Silent	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:203465262T>C	ENST00000367222.2	+	2	245	c.129T>C	c.(127-129)gtT>gtC	p.V43V		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	43						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V43V(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTTTGAAGTTCTGCCTCTGC	0.542000													8	35					0	0	0.003080	0	0
WTAP	9589	broad.mit.edu	37	6	160176087	160176087	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:160176087A>C	ENST00000358372.4	+	8	2392	c.635A>C	c.(634-636)gAt>gCt	p.D212A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	212					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.D212A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATCCAGCTTGATGAAGAAGTA	0.453000													5	25					0	0	0.014758	0	0
ZNF835	90485	broad.mit.edu	37	19	57175150	57175150	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:57175150G>T	ENST00000537055.2	-	2	1648	c.1417C>A	c.(1417-1419)Ccc>Acc	p.P473T		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.P495T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CACTCGTAGGGCTTCTCCCCG	0.662000													29	114					3.90053e-15	5.36322e-15	0.012213	1	0
ZNF431	170959	broad.mit.edu	37	19	21366070	21366070	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:21366070G>T	ENST00000311048.7	+	5	1108	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G322F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGAATGTGGCAAAGCTTT	0.403000													8	29					0.000157383	0.000171488	0.003080	1	0
ACTN2	88	broad.mit.edu	37	1	236894581	236894581	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:236894581C>A	ENST00000366578.4	+	7	830	c.664C>A	c.(664-666)Cac>Aac	p.H222N	ACTN2_ENST00000542672.1_Missense_Mutation_p.H222N|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	222	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.H222N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCTGAGAAGCACCTGGATAT	0.363000													18	70					1.87028e-06	2.19307e-06	0.012319	1	0
MFAP3	4238	broad.mit.edu	37	5	153429449	153429449	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:153429449C>G	ENST00000436816.1	+	2	386	c.167C>G	c.(166-168)tCg>tGg	p.S56W	MFAP3_ENST00000439768.2_Intron|MFAP3_ENST00000322602.5_Missense_Mutation_p.S56W	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	56	Ig-like C2-type.					integral to membrane|plasma membrane		p.S56W(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGTTCCCACTCGGATGATGAT	0.433000													9	27					0	0	0.010729	0	0
TECTA	7007	broad.mit.edu	37	11	121038838	121038838	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:121038838A>G	ENST00000392793.1	+	19	5933	c.5662A>G	c.(5662-5664)Agg>Ggg	p.R1888G	TECTA_ENST00000264037.2_Missense_Mutation_p.R1888G			O75443	TECTA_HUMAN	tectorin alpha	1888	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1888G(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCATCACCAGGGACCGCAC	0.453000													46	142					0	0	0.014410	0	0
TAGAP	117289	broad.mit.edu	37	6	159457919	159457919	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:159457919G>C	ENST00000367066.3	-	10	1467	c.1136C>G	c.(1135-1137)cCc>cGc	p.P379R	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P201R|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	379					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.P379R(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGCATGCTGGGCTCTGAGTA	0.617000													11	32					0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr17:7578542G>A	ENST00000420246.2	-	5	520	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TP53_ENST00000413465.2_Missense_Mutation_p.L130F|TP53_ENST00000359597.4_Missense_Mutation_p.L130F|TP53_ENST00000269305.4_Missense_Mutation_p.L130F|TP53_ENST00000445888.2_Missense_Mutation_p.L130F|TP53_ENST00000455263.2_Missense_Mutation_p.L130F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552000		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)			7	19					0	0	0.029380	0	0
ADCY2	108	broad.mit.edu	37	5	7709400	7709400	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:7709400G>A	ENST00000338316.4	+	10	1567	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R313H|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	493					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R493H(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCTCGGTCCGCATGACCCGG	0.587000													3	37					0	0	0.009096	0	0
SON	6651	broad.mit.edu	37	21	34926907	34926907	+	Silent	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr21:34926907T>C	ENST00000356577.4	+	3	5845	c.5370T>C	c.(5368-5370)taT>taC	p.Y1790Y	SON_ENST00000300278.4_Silent_p.Y1790Y|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.Y1790Y|SON_ENST00000381679.4_Silent_p.Y1790Y	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1790					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.Y1790Y(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAGATGATTATGAAATTTTTG	0.388000													12	99					0	0	0.013537	0	0
CAD	790	broad.mit.edu	37	2	27465212	27465212	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:27465212G>A	ENST00000264705.4	+	40	6301	c.6139G>A	c.(6139-6141)Gat>Aat	p.D2047N	CAD_ENST00000403525.1_Missense_Mutation_p.D1984N	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2047	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.D2047N(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAATGCTGGGGATGGGGTCGG	0.612000													18	16					0	0	0.007413	0	0
NUB1	51667	broad.mit.edu	37	7	151074177	151074177	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:151074177G>A	ENST00000568733.1	+	15	1852	c.1786G>A	c.(1786-1788)Gtc>Atc	p.V596I	NUB1_ENST00000566856.1_Missense_Mutation_p.V558I|NUB1_ENST00000355851.4_Missense_Mutation_p.V572I|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Missense_Mutation_p.V582I			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	572	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	p.V558I(1)		endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GACAGAGGCCGTCAATGAGAT	0.433000													5	10					0	0	0.029380	0	0
ITIH2	3698	broad.mit.edu	37	10	7751133	7751133	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:7751133C>T	ENST00000358415.4	+	4	507	c.341C>T	c.(340-342)gCa>gTa	p.A114V	ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.A103V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	114	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A114V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCCAAAGGAGCATTCATTTCC	0.453000													11	61					0	0	0.013537	0	0
TRAP1	10131	broad.mit.edu	37	16	3740882	3740882	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:3740882C>T	ENST00000246957.5	-	2	281	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	65					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	p.E65K(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCCTTGTCCTCGGCGGTCTGC	0.602000											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	35					0	0	0.004672	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600625	31600625	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:31600625G>T	ENST00000170150.3	+	4	415	c.220G>T	c.(220-222)Gtc>Ttc	p.V74F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	74						extracellular region	lipid binding	p.V74F(1)									GATTCTGAATGTCCATGTGCC	0.532000													21	212					9.57634e-11	1.24979e-10	0.018920	1	0
CLDN25	644672	broad.mit.edu	37	11	113650996	113650996	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:113650996G>T	ENST00000453129.2	+	1	528	c.479G>T	c.(478-480)tGg>tTg	p.W160L		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	160						integral to membrane|tight junction	structural molecule activity	p.W160L(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						ATACCTCGGTGGGAGTTTGGA	0.567000													9	39					1.76689e-08	2.20623e-08	0.006214	1	0
CPT1C	126129	broad.mit.edu	37	19	50204776	50204776	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:50204776T>A	ENST00000392518.4	+	7	950	c.578T>A	c.(577-579)aTc>aAc	p.I193N	CPT1C_ENST00000354199.5_Missense_Mutation_p.I193N|CPT1C_ENST00000323446.5_Missense_Mutation_p.I193N|CPT1C_ENST00000598293.1_Missense_Mutation_p.I193N|CPT1C_ENST00000405931.2_Missense_Mutation_p.I193N	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	193					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.I193N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTCCGGCCCATCCTCTCCGAC	0.706000													3	28					0	0	0.009096	0	0
TERT	7015	broad.mit.edu	37	5	1278792	1278792	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:1278792G>A	ENST00000310581.5	-	6	2307	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	TERT_ENST00000334602.6_Silent_p.A750A|TERT_ENST00000296820.5_Silent_p.A750A|TERT_ENST00000508104.2_Silent_p.A750A	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	750	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.A750A(1)|p.A738A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCATGGGCGGCCTTCTGGA	0.572000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				156	273					0	0	0.014410	0	0
GRIA3	2892	broad.mit.edu	37	X	122319788	122319788	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:122319788A>G	ENST00000264357.5	+	2	506	c.214A>G	c.(214-216)Aat>Gat	p.N72D	GRIA3_ENST00000371264.3_Missense_Mutation_p.N72D|GRIA3_ENST00000371256.5_Missense_Mutation_p.N72D|GRIA3_ENST00000542149.1_Missense_Mutation_p.N72D|GRIA3_ENST00000541091.1_Missense_Mutation_p.N56D|GRIA3_ENST00000371251.1_Missense_Mutation_p.N72D|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Missense_Mutation_p.N72D	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	72					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.N72D(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTTCCATTTGAATTACCACGT	0.468000													4	41					0	0	0.009096	0	0
CHD4	1108	broad.mit.edu	37	12	6690314	6690314	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:6690314G>A	ENST00000309577.6	-	32	5052	c.4889C>T	c.(4888-4890)tCa>tTa	p.S1630L	CHD4_ENST00000544484.1_Missense_Mutation_p.S1627L|CHD4_ENST00000357008.2_Missense_Mutation_p.S1602L|CHD4_ENST00000544040.1_Missense_Mutation_p.S1595L|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1602	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.S1602L(1)|p.S1630L(1)		central_nervous_system(2)	2						TTCATCCTCTGAGGCAGGGGC	0.488000													88	197					0	0	0.014410	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472782	64472782	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:64472782G>T	ENST00000355086.3	+	9	1733	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q403H|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q363H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	403					axon guidance	cytosol		p.Q403H(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AATGCTTCCAGCACAGTCGTT	0.463000													18	63					1.33834e-09	1.73683e-09	0.007413	1	0
NDC80	10403	broad.mit.edu	37	18	2616504	2616504	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr18:2616504G>A	ENST00000261597.4	+	17	2042	c.1860G>A	c.(1858-1860)tcG>tcA	p.S620S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	620	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.S620S(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAGATCTCTCGGAAAATATTA	0.299000													12	30					0	0	0.013537	0	0
ACKR3	57007	broad.mit.edu	37	2	237489712	237489712	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:237489712G>A	ENST00000272928.3	+	2	914	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.E202K(1)									CTTCTACCCCGAGCACAGCAT	0.567000													10	67					0	0	0.008291	0	0
RWDD3	25950	broad.mit.edu	37	1	95709848	95709848	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:95709848A>G	ENST00000429514.2	+	3	328	c.122A>G	c.(121-123)cAt>cGt	p.H41R	RWDD3_ENST00000370202.4_Missense_Mutation_p.H56R|RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.H56R|RWDD3_ENST00000495272.1_3'UTR			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	56	RWD.					cytoplasm|nucleus	protein binding	p.H56R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TTGGTGTTCCATTTGCCAGTC	0.428000													7	75					0	0	0.029380	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537608	75537608	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:75537608C>G	ENST00000524913.1	+	2	821	c.332C>G	c.(331-333)tCa>tGa	p.S111*	ZC2HC1C_ENST00000238686.8_Nonsense_Mutation_p.S111*|ZC2HC1C_ENST00000439583.2_Nonsense_Mutation_p.S111*|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	111								p.S111*(1)									TTTTACTCGTCAGGCCCTCAA	0.498000													10	104					0	0	0.006214	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372617	151372617	+	Silent	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:151372617G>T	ENST00000287878.4	-	4	1077	c.573C>A	c.(571-573)atC>atA	p.I191I	PRKAG2_ENST00000433631.2_Silent_p.I67I|PRKAG2_ENST00000492843.1_Silent_p.I67I|PRKAG2_ENST00000392801.2_Silent_p.I147I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	191					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	p.I191I(2)|p.I67I(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		ACGAGGCATAGATGCGATTCT	0.592000													22	55					2.98393e-07	3.64703e-07	0.016522	1	0
ENPP1	5167	broad.mit.edu	37	6	132203498	132203498	+	Missense_Mutation	SNP	C	C	T	rs138032713		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:132203498C>T	ENST00000360971.2	+	21	2134	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	705	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.T653M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGTTTCTCTACGGAAGACTTC	0.358000													12	89					0	0	0.016723	0	0
PSME4	23198	broad.mit.edu	37	2	54127099	54127099	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr2:54127099G>T	ENST00000404125.1	-	29	3396	c.3341C>A	c.(3340-3342)tCt>tAt	p.S1114Y	PSME4_ENST00000421748.2_Missense_Mutation_p.S258Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.S1114Y(1)|p.S1000Y(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTGGTTGATAGAGGGGTTTTT	0.358000													7	160					3.09899e-07	3.76771e-07	0.004482	1	0
FAM47A	158724	broad.mit.edu	37	X	34148020	34148020	+	Nonstop_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:34148020C>A	ENST00000346193.3	-	1	2427	c.2376G>T	c.(2374-2376)taG>taT	p.*792Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	0								p.*792fs?(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGAAAACTGCCTAATCTTCTT	0.388000													10	14					7.48243e-07	8.90949e-07	0.006214	1	0
LILRB1	10859	broad.mit.edu	37	19	55146165	55146165	+	Silent	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:55146165C>A	ENST00000396331.1	+	11	1791	c.1434C>A	c.(1432-1434)ctC>ctA	p.L478L	LILRB1_ENST00000396327.3_Silent_p.L479L|LILRB1_ENST00000427581.2_Silent_p.L528L|LILRB1_ENST00000434867.2_Silent_p.L478L|LILRB1_ENST00000396332.4_Silent_p.L478L|LILRB1_ENST00000418536.2_Silent_p.L462L|LILRB1_ENST00000396315.1_Silent_p.L479L|LILRB1_ENST00000396321.2_Silent_p.L478L|LILRB1_ENST00000324602.7_Silent_p.L479L|LILRB1_ENST00000396317.1_Silent_p.L462L|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Silent_p.L478L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	478					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		tcctcctcctcctcttcctca	0.612000										HNSCC(37;0.09)			10	57					3.86212e-05	4.3099e-05	0.008291	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147009296	147009296	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:147009296G>T	ENST00000265272.5	-	15	2356	c.1889C>A	c.(1888-1890)cCt>cAt	p.P630H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.P588H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.P609H	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	630						Golgi apparatus		p.P630H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGATCAGGGATGTTCAC	0.383000													15	48					2.32078e-09	2.97834e-09	0.024245	1	0
MAN1A1	4121	broad.mit.edu	37	6	119670168	119670168	+	Silent	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:119670168C>A	ENST00000368468.3	-	2	504	c.63G>T	c.(61-63)ggG>ggT	p.G21G	MAN1A1_ENST00000368466.2_Silent_p.G21G	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	21					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G21G(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		cgccgccgagccccccgccca	0.746000													5	6					0.00198382	0.00211181	0.029380	1	0
BRINP1	1620	broad.mit.edu	37	9	121929698	121929698	+	Silent	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr9:121929698G>A	ENST00000265922.3	-	8	2411	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		650					cell cycle arrest|cell death	cytoplasm	protein binding	p.I650I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGAGATCTTGATGTAGAACT	0.582000													56	61					0	0	0.014410	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215724	140215724	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr5:140215724G>T	ENST00000525929.1	+	1	1756	c.1756G>T	c.(1756-1758)Ggc>Tgc	p.G586C	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G586C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1												p.G586C(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTCTGTGGGCGCGGGCCA	0.662000													24	55					5.35356e-11	7.02654e-11	0.016522	1	0
NTRK3	4916	broad.mit.edu	37	15	88423518	88423518	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr15:88423518G>T	ENST00000394480.1	-	18	2596	c.2275C>A	c.(2275-2277)Caa>Aaa	p.Q759K	NTRK3_ENST00000357724.2_Missense_Mutation_p.Q765K|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q773K|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q751K|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q759K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	773	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q759K(1)|p.Q773K(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTGAGAGTTGGAACCATGGC	0.493000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	47					1.58986e-06	1.87377e-06	0.008291	1	0
OR4C12	283093	broad.mit.edu	37	11	50003539	50003539	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:50003539A>G	ENST00000335238.4	-	1	532	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C167L(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTGGGGCCACAGAAGGGCAGC	0.473000													42	72					0	0	0.033182	0	0
UBR2	23304	broad.mit.edu	37	6	42626404	42626404	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr6:42626404A>C	ENST00000372899.1	+	29	3342	c.3084A>C	c.(3082-3084)aaA>aaC	p.K1028N	UBR2_ENST00000372901.1_Missense_Mutation_p.K1028N|UBR2_ENST00000372883.3_Missense_Mutation_p.K536T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1028					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.K1028N(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACAAAGACAAAGCTGAGAGGA	0.383000													17	25					0	0	0.006122	0	0
ADAD1	132612	broad.mit.edu	37	4	123317479	123317479	+	Missense_Mutation	SNP	G	G	T	rs113377246		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:123317479G>T	ENST00000296513.2	+	7	856	c.671G>T	c.(670-672)cGt>cTt	p.R224L	ADAD1_ENST00000388725.2_Missense_Mutation_p.R206L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.R224L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	224					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.R224L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTCTAATCGTTCAGAATAC	0.274000													20	44					5.03518e-11	6.64644e-11	0.007413	1	0
SLC1A1	6505	broad.mit.edu	37	9	4564398	4564398	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr9:4564398T>C	ENST00000262352.3	+	4	616	c.380T>C	c.(379-381)aTt>aCt	p.I127T	SLC1A1_ENST00000490167.1_3'UTR	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	127					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.I127T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GTGGGTGAAATTGCGAGGACA	0.542000													3	17					0	0	0.004672	0	0
LIM2	3982	broad.mit.edu	37	19	51890513	51890513	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:51890513G>T	ENST00000221973.3	-	2	227	c.185C>A	c.(184-186)cCc>cAc	p.P62H	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.P62H(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		ACCCTGGCCGGGGGGCTCACC	0.652000													18	57					2.37509e-13	3.17137e-13	0.010504	1	0
SF1	7536	broad.mit.edu	37	11	64536756	64536756	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr11:64536756G>A	ENST00000377390.3	-	7	1055	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	SF1_ENST00000227503.9_Missense_Mutation_p.R240W|SF1_ENST00000377394.3_Missense_Mutation_p.R240W|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R365W|SF1_ENST00000334944.5_Missense_Mutation_p.R240W|SF1_ENST00000422298.2_Missense_Mutation_p.R125W|SF1_ENST00000433274.2_Missense_Mutation_p.R214W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	240					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.R240W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGCATCTTCCGTAGATCATTC	0.473000													20	46					0	0	0.016522	0	0
MYF5	4617	broad.mit.edu	37	12	81110975	81110975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:81110975G>T	ENST00000228644.3	+	1	285	c.133G>T	c.(133-135)Gag>Tag	p.E45*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E45*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCACAAAGCAGAGCTGCAGGG	0.617000													6	18					0.00307968	0.00326333	0.003080	1	0
ITGA8	8516	broad.mit.edu	37	10	15714724	15714724	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr10:15714724G>C	ENST00000378076.3	-	7	1054	c.701C>G	c.(700-702)gCa>gGa	p.A234G		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	234					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.A234G(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATGATATCTGCAACACTGGC	0.443000													13	59					0	0	0.013537	0	0
AHR	196	broad.mit.edu	37	7	17378833	17378833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:17378833C>T	ENST00000242057.4	+	10	2027	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	462					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q462*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGCCATGATGCAACAAGATGA	0.403000													23	100					0	0	0.018920	0	0
ZNF431	170959	broad.mit.edu	37	19	21366071	21366071	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:21366071G>T	ENST00000311048.7	+	5	1109	c.965G>T	c.(964-966)gGc>gTc	p.G322V	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G322F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGAATGTGGCAAAGCTTTT	0.403000													8	28					0.000157383	0.000171488	0.003080	1	0
HES5	388585	broad.mit.edu	37	1	2461331	2461331	+	Silent	SNP	C	C	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:2461331C>T	ENST00000378453.3	-	2	254	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_001010926.3	NP_001010926.1	Q5TA89	HES5_HUMAN	hes family bHLH transcription factor 5	58	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus		p.K58K(1)		lung(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGATGTCGGCCTTCTCCAGCT	0.677000													5	2					0	0	0.014758	0	0
EP400	57634	broad.mit.edu	37	12	132471165	132471165	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:132471165G>C	ENST00000333577.4	+	7	2253	c.2144G>C	c.(2143-2145)gGa>gCa	p.G715A	EP400_ENST00000332482.4_Missense_Mutation_p.G642A|EP400_ENST00000389562.2_Missense_Mutation_p.G678A|EP400_ENST00000389561.2_Missense_Mutation_p.G679A|EP400_ENST00000330386.6_Missense_Mutation_p.G679A			Q96L91	EP400_HUMAN	E1A binding protein p400	715					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.G678A(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCGGCCCAGGACCCTCCCCT	0.642000													22	45					0	0	0.016522	0	0
KALRN	8997	broad.mit.edu	37	3	124153192	124153192	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr3:124153192G>C	ENST00000360013.3	+	17	2989	c.2862G>C	c.(2860-2862)caG>caC	p.Q954H	KALRN_ENST00000460856.1_Missense_Mutation_p.Q945H|KALRN_ENST00000240874.3_Missense_Mutation_p.Q954H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	954					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.Q954H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGACGCACCAGAGTGCCCTGC	0.612000													5	29					0	0	0.021553	0	0
CHD4	1108	broad.mit.edu	37	12	6690315	6690315	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr12:6690315A>G	ENST00000309577.6	-	32	5051	c.4888T>C	c.(4888-4890)Tca>Cca	p.S1630P	CHD4_ENST00000544484.1_Missense_Mutation_p.S1627P|CHD4_ENST00000357008.2_Missense_Mutation_p.S1602P|CHD4_ENST00000544040.1_Missense_Mutation_p.S1595P|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1602	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.S1602L(1)|p.S1630L(1)		central_nervous_system(2)	2						TCATCCTCTGAGGCAGGGGCA	0.483000													88	197					0	0	0.014410	0	0
DGKK	139189	broad.mit.edu	37	X	50136332	50136332	+	RNA	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:50136332G>T	ENST00000376025.2	-	0	1472							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.G267G(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTACTAATTGGCCTGACACAA	0.398000													7	2					0.000157383	0.000171488	0.003080	1	0
TMEM2	23670	broad.mit.edu	37	9	74324227	74324227	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr9:74324227C>A	ENST00000377044.4	-	17	3472	c.2933G>T	c.(2932-2934)tGt>tTt	p.C978F	TMEM2_ENST00000377066.5_Missense_Mutation_p.C915F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	978						integral to membrane		p.C978F(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CACATTTACACAGCTTGGATG	0.458000													33	34					5.43694e-19	7.61171e-19	0.023175	1	0
LUC7L	55692	broad.mit.edu	37	16	240028	240028	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:240028G>A	ENST00000337351.4	-	9	1036	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	LUC7L_ENST00000293872.8_Missense_Mutation_p.R305C|LUC7L_ENST00000397783.1_Missense_Mutation_p.R305C|LUC7L_ENST00000397780.1_Missense_Mutation_p.R252C	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	305	Arg/Ser-rich.						metal ion binding	p.R305C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCCGGGAACGGCTGCGGTGG	0.632000													144	461					0	0	0.014410	0	0
CNOT3	4849	broad.mit.edu	37	19	54647826	54647826	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:54647826G>T	ENST00000406403.1	+	5	1946	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.D115Y			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	115					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.D115Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGAAGGTAGATCCTGCCCA	0.542000													15	42					1.37285e-15	1.89898e-15	0.028581	1	0
CACNA1S	779	broad.mit.edu	37	1	201046189	201046190	+	Frame_Shift_Ins	INS	-	-	G			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr1:201046189_201046190insG	ENST00000362061.3	-	12	1911_1912	c.1685_1686insC	c.(1684-1686)cctfs	p.P562fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.P562fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	562	Poly-Leu.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGCAGCAGCAGGGAGGCGAT	0.574													12	60	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114257151	114257151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr4:114257151delC	ENST00000357077.4	+	30	3582	c.3529delC	c.(3529-3531)ccfs	p.P1177fs	ANK2_ENST00000394537.3_Frame_Shift_Del_p.P1177fs|ANK2_ENST00000264366.6_Frame_Shift_Del_p.P1144fs|ANK2_ENST00000506722.1_Frame_Shift_Del_p.P1168fs|ANK2_ENST00000509550.1_Frame_Shift_Del_p.P353fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1144					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAGTGGTGCCCCAGGTGCA	0.557													14	74	---	---	---	---					
NEUROD6	63974	broad.mit.edu	37	7	31378583	31378584	+	Frame_Shift_Ins	INS	-	-	TTCGC			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:31378583_31378584insTTCGC	ENST00000297142.3	-	2	621_622	c.299_300insGCGAA	c.(298-300)agcfs	p.-100fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6						cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N100N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCTCGCGCGCGTTCGCTTCCTG	0.480													33	182	---	---	---	---					
GIMAP6	474344	broad.mit.edu	37	7	150325424	150325425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr7:150325424_150325425insA	ENST00000328902.5	-	3	477_478	c.261_262insT	c.(259-264)gcggaafs	p.E88fs	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	88							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTCCTTCCCAGCCCACTCTC	0.594													63	117	---	---	---	---					
PCM1	5108	broad.mit.edu	37	8	17824524	17824524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:17824524delA	ENST00000325083.8	+	21	3696	c.3257delA	c.(3256-3258)cafs	p.Q1086fs	PCM1_ENST00000519253.1_Frame_Shift_Del_p.Q1086fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.Q1087fs	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1086				Q -> R (in Ref. 1; AAA60120).	centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATGCGCCAGCAAAATCAGCAT	0.388			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								2	4	---	---	---	---					
ARMC1	55156	broad.mit.edu	37	8	66517564	66517566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:66517564_66517566delTGC	ENST00000276569.3	-	6	833_835	c.589_591delGCA	c.(589-591)del	p.A197del	ARMC1_ENST00000458464.2_In_Frame_Del_p.A95del	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	197					metal ion transport		metal ion binding	p.A197S(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTATTGCTGATGCCAAAGCCTAA	0.335													37	98	---	---	---	---					
DEPTOR	64798	broad.mit.edu	37	8	121019043	121019043	+	Splice_Site	DEL	G	G	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:121019043delG	ENST00000286234.5	+	7	1055		c.e7-1		DEPTOR_ENST00000523492.1_Splice_Site|DEPTOR_ENST00000518057.1_Splice_Site	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein						intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGTCTGCCAGTGCTGAAGAG	0.488													13	48	---	---	---	---					
DERL1	79139	broad.mit.edu	37	8	124031533	124031558	+	Splice_Site	DEL	CTCATTGATTACCCTGCAAAGAGAGC	CTCATTGATTACCCTGCAAAGAGAGC	-	rs2272722	byFrequency	TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr8:124031533_124031558delCTCATTGATTACCCTGCAAAGAGAGC	ENST00000259512.4	-	7	807_819	c.506_splice	c.e7-1	p.169_splice	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Intron|DERL1_ENST00000519018.1_Splice_Site_p.69_splice|DERL1_ENST00000419562.2_Splice_Site_p.69_splice|DERL1_ENST00000523036.1_Splice_Site_p.69_splice	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	169					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCAATAAGCTCATTGATTACCCTGCAAAGAGAGCCAAATGAGTT	0.394													9	44	---	---	---	---					
SNHG24	101929369	broad.mit.edu	37	14	101440108	101440110	+	RNA	DEL	TAT	TAT	-	rs80236666		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr14:101440108_101440110delTAT	ENST00000554693.2	+	0	384																											ATTTTAGAAATATTATTGTAAAC	0.300													4	6	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs71657822		TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000564831.1	+	2	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)del	p.GTASGGEEA355del	APOBR_ENST00000431282.1_Splice_Site_p.346_splice|APOBR_ENST00000328423.5_Splice_Site_p.346_splice	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													7	21	---	---	---	---					
RLTPR	146206	broad.mit.edu	37	16	67682654	67682654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr16:67682654delC	ENST00000334583.6	+	16	1834	c.1506delC	c.(1504-1506)tgfs	p.C502fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.C466fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	502										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCAGCGCTTGCGAGGTGAGCG	0.706													2	4	---	---	---	---					
MAP3K10	4294	broad.mit.edu	37	19	40698168	40698168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:40698168delC	ENST00000253055.3	+	1	518	c.230delC	c.(229-231)gcfs	p.A77fs	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	77	SH3.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACTACGTGGCCCCCGGCGCC	0.711													4	9	---	---	---	---					
RNF225	646862	broad.mit.edu	37	19	58907569	58907571	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr19:58907569_58907571delAGG	ENST00000601382.1	+	1	113_115	c.113_115delAGG	c.(112-117)cag>c	p.38del		NM_001195135.1	NP_001182064.1																					GGGGAAGACCaggaggaggagga	0.724													2	4	---	---	---	---					
SPTLC3	55304	broad.mit.edu	37	20	12989965	12989970	+	In_Frame_Del	DEL	ACAAGA	ACAAGA	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:12989965_12989970delACAAGA	ENST00000399002.2	+	1	324_329	c.50_55delACAAGA	c.(49-57)caa>c	p.HKK17del	SPTLC3_ENST00000378194.4_In_Frame_Del_p.HKK17del|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	17					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTCACAATCACAAGAAACAGAGCAA	0.495													7	44	---	---	---	---					
ELMO2	63916	broad.mit.edu	37	20	45017842	45017842	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chr20:45017842delC	ENST00000290246.6	-	7	455	c.261delG	c.(259-261)cafs	p.Q87fs	ELMO2_ENST00000396391.1_Frame_Shift_Del_p.Q87fs|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Frame_Shift_Del_p.Q87fs|ELMO2_ENST00000439931.2_Frame_Shift_Del_p.Q87fs|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	87					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTCCATCAGCTGGCGTGCAG	0.577													30	88	---	---	---	---					
EBP	10682	broad.mit.edu	37	X	48382369	48382370	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:48382369_48382370insGT	ENST00000495186.1	+	2	1033_1034	c.210_211insGT	c.(208-213)gctgtgfs	p.V71fs	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	71					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						GCTGGTTTGCAGTGTGTGGGTT	0.554													27	28	---	---	---	---					
GPKOW	27238	broad.mit.edu	37	X	48978780	48978780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:48978780delC	ENST00000156109.5	-	3	502	c.424delG	c.(424-426)aafs	p.E142fs		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	142						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TCTGCCCCTTCCCCGCTGGGG	0.617													2	4	---	---	---	---					
TCEAL5	340543	broad.mit.edu	37	X	102529123	102529123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5125-01A-01D-1753-08	TCGA-75-5125-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cee9575-3040-4ff1-bf7e-ca8873860c59	ef0949fe-da5b-42bd-b2db-bd262274752f	g.chrX:102529123delC	ENST00000372680.1	-	3	663	c.369delG	c.(367-369)ggfs	p.G123fs		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AATCGTCCGTCCCCCTGTCGG	0.577													26	89	---	---	---	---