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
NLRP12	91662	broad.mit.edu	37	19	54313268	54313268	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:54313268C>T	ENST00000324134.6	-	3	1813	c.1645G>A	c.(1645-1647)Gcg>Acg	p.A549T	NLRP12_ENST00000391773.1_Missense_Mutation_p.A549T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A549T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A549T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	549					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCAGAAAACGCGTACTCGGTC	0.572000													67	91					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548892	116548892	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:116548892G>C	ENST00000410059.1	+	19	2140	c.1660G>C	c.(1660-1662)Gat>Cat	p.D554H	DPP10_ENST00000409163.1_Missense_Mutation_p.D504H|DPP10_ENST00000393147.2_Missense_Mutation_p.D558H|DPP10_ENST00000310323.8_Missense_Mutation_p.D547H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	554					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTCCCAAAGATTTTATGGA	0.299000													26	35					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729258	99729258	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:99729258C>A	ENST00000389677.5	-	6	1294	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.D58Y	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	338																	GTATTGTCATCATCGTGGTGC	0.483000													37	62					6.29468e-14	6.81924e-14	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541562	55541562	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:55541562C>T	ENST00000361760.1	+	1	649	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATTATCATTCTGACATCATA	0.438000													7	184					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103236897	103236897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr4:103236897C>T	ENST00000424970.2	-	3	625	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	SLC39A8_ENST00000394833.2_Missense_Mutation_p.V104I|SLC39A8_ENST00000356736.4_Missense_Mutation_p.V104I|SLC39A8_ENST00000510255.1_5'UTR	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	104						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TGCTGTAAGACTGCTGGACAG	0.393000													16	115					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682457	50682457	+	Silent	SNP	C	C	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:50682457C>A	ENST00000439308.2	-	1	924	c.432G>T	c.(430-432)ccG>ccT	p.P144P	TUBGCP6_ENST00000248846.5_Silent_p.P144P	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	144					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCGCTGTACGGAACGTTTC	0.512000													13	61					4.3838e-07	4.58535e-07	1	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44218816	44218816	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:44218816G>A	ENST00000371554.1	+	7	1203	c.989G>A	c.(988-990)aGg>aAg	p.R330K	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	330					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGAATTCAGGGCATTGCTA	0.398000													85	123					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933291	148933291	+	RNA	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:148933291G>A	ENST00000539543.1	+	0	177					NR_027355.1																						CTGCCCGCAGGATATTGTGGC	0.557000													3	17					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963928	88963928	+	Silent	SNP	T	T	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:88963928T>C	ENST00000333190.4	+	4	2241	c.1632T>C	c.(1630-1632)gaT>gaC	p.D544D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	544						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAATCCGGATTGGGAAAAAT	0.348000										HNSCC(36;0.09)			8	47					0	0	1	0	0
EIF2S1	1965	broad.mit.edu	37	14	67831619	67831619	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:67831619G>A	ENST00000256383.4	+	2	596	c.135G>A	c.(133-135)atG>atA	p.M45I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.M45I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	45	S1 motif.					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTGAAGGCATGATTCTTCTTA	0.428000													36	202					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42729429	42729429	+	Splice_Site	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr15:42729429C>T	ENST00000263805.4	-	10	5004		c.e10+1		ZNF106_ENST00000565611.1_Splice_Site|ZNF106_ENST00000565380.1_Splice_Site	NM_022473.1	NP_071918.1			zinc finger protein 106																		TATCAACTTACCACCAGATTA	0.368000													29	67					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120847202	120847202	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr8:120847202G>A	ENST00000313655.4	-	9	1327	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	371					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATATTTAGTGAGTAATGCAC	0.318000													15	36					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315487	67315487	+	Silent	SNP	C	C	T	rs145774796		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:67315487C>T	ENST00000360461.5	+	5	3366	c.831C>T	c.(829-831)gcC>gcT	p.A277A	PLEKHG4_ENST00000379344.3_Silent_p.A277A|PLEKHG4_ENST00000450733.1_Silent_p.A196A|PLEKHG4_ENST00000427155.2_Silent_p.A277A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	277					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCCAGGGGCCGTGTACCAGG	0.602000													16	18					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98538221	98538221	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:98538221C>T	ENST00000326840.6	-	8	1274	c.912G>A	c.(910-912)gcG>gcA	p.A304A	DCBLD2_ENST00000326857.9_Silent_p.A304A	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	304	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTGAGGATCCGCGATCACAC	0.443000													11	73					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254856	24254856	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr8:24254856G>A	ENST00000538205.1	+	7	824	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.V93I|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.V172I|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	172					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAACATGCCGTCTTTACATC	0.433000													76	168					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161680622	161680622	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:161680622A>G	ENST00000540926.1	+	3	463	c.170A>G	c.(169-171)gAc>gGc	p.D57G	FCRLA_ENST00000367953.3_Missense_Mutation_p.D57G|FCRLA_ENST00000236938.6_Missense_Mutation_p.D68G|FCRLA_ENST00000309691.6_Missense_Mutation_p.D51G|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.D68G|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.D68G|FCRLA_ENST00000367950.1_Missense_Mutation_p.D28G|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.D51G|FCRLA_ENST00000367959.2_Missense_Mutation_p.D74G|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	51					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACGGAGGATGACTTGACTGAT	0.572000													28	38					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667411	50667411	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:50667411G>C	ENST00000268459.3	+	10	1356	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	378					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCCTGCGGTGTCCCCCTC	0.692000													4	24					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009317	120009317	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:120009317C>T	ENST00000371311.3	-	1	462	c.208G>A	c.(208-210)Gca>Aca	p.A70T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	70										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCAGGCCTGCCGCCTGCTCA	0.726000													6	33					0	0	1	0	0
GMFB	2764	broad.mit.edu	37	14	54948136	54948136	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:54948136C>T	ENST00000358056.3	-	4	459	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000554908.1_3'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	64	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TCGAGGTTGTCGTTCAGGTAG	0.353000													6	41					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474874	5474874	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:5474874G>A	ENST00000341449.2	+	1	237	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGTGGAGCCCAGCCTCC	0.572000													42	20					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93043785	93043785	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:93043785C>T	ENST00000216487.7	+	3	489	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAAGCTCGGCCGAGGTGCTCG	0.527000													26	217					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004050	155004050	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:155004050C>T	ENST00000302805.2	+	2	948	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	173	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						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)					GTGCAACCAGCGCTGCCTTTG	0.582000													15	180					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949350	198949350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:198949350G>A	ENST00000428675.1	+	2	1507	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	PLCL1_ENST00000437704.2_Missense_Mutation_p.G272E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	370					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGTCAAAAAGGGTTTCTTGCA	0.413000													8	153					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71389822	71389822	+	Missense_Mutation	SNP	G	G	A	rs147343958		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:71389822G>A	ENST00000392650.3	-	27	3775	c.3775C>T	c.(3775-3777)Cgc>Tgc	p.R1259C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1259C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1259	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGCACTGCGAGACGAGTTG	0.627000													9	42					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105707730	105707730	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:105707730C>T	ENST00000546474.1	-	6	15525	c.566G>A	c.(565-567)cGc>cAc	p.R189H	BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.R74H|BRF1_ENST00000327359.3_Missense_Mutation_p.R74H|BRF1_ENST00000379937.2_Missense_Mutation_p.R162H|BRF1_ENST00000551787.1_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	189					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTGCGCAAAGCGTGGAATATA	0.627000													23	19					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225292	107225292	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:107225292G>A	ENST00000302917.1	-	2	158	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	22										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCATTTTCTCGATGATGAAGG	0.562000													7	55					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54483236	54483236	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:54483236C>T	ENST00000270458.2	+	3	586	c.483C>T	c.(481-483)ggC>ggT	p.G161G		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	161					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TCATTCTGGGCGCAGGGATCC	0.657000													4	20					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864593	13864593	+	Silent	SNP	G	G	A	rs138157585	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:13864593G>A	ENST00000265104.4	-	28	4613	c.4509C>T	c.(4507-4509)acC>acT	p.T1503T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1503	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGTGCCCGGTGAGGGTGG	0.458000									Kartagener syndrome				24	41					0	0	1	0	0
RNF113A	7737	broad.mit.edu	37	X	119005206	119005206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:119005206G>A	ENST00000371442.2	-	1	585	c.371C>T	c.(370-372)aCa>aTa	p.T124I		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	124							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTTTCTCTGTGTCCAGCTC	0.552000													11	316					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189932828	189932828	+	Silent	SNP	A	A	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:189932828A>T	ENST00000374866.3	-	21	1588	c.1314T>A	c.(1312-1314)ggT>ggA	p.G438G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	438					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GACCAGAGGTACCTGGAGAGC	0.532000													49	50					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858254	101858254	+	Silent	SNP	A	A	G	rs148467545		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:101858254A>G	ENST00000604957.1	+	1	3807	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	ARMCX5_ENST00000541409.1_Silent_p.Q395Q|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.Q395Q|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.Q395Q|ARMCX5_ENST00000536530.1_Silent_p.Q395Q|ARMCX5_ENST00000372742.1_Silent_p.Q395Q	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	395							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATATACATCAAGTTTGTAAAG	0.418000													4	66					0	0	1	0	0
GTF3A	2971	broad.mit.edu	37	13	28008981	28008981	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr13:28008981G>A	ENST00000381140.4	+	7	877	c.683G>A	c.(682-684)cGc>cAc	p.R228H	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	general transcription factor IIIA	228					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		ACATTTAAACGCAAAGATTAC	0.388000													3	37					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410972	130410972	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:130410972C>T	ENST00000370904.1	-	20	3432	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.R855Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R841Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R850Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	850	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCATAATATCGGCAGCTGTA	0.557000													34	204					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114193780	114193780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:114193780C>T	ENST00000369615.1	+	14	2454	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R798*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R798*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R823*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGCTGCTCGAAATGGCCA	0.428000													9	56					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61412622	61412622	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr10:61412622G>A	ENST00000395348.3	-	6	2074	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	SLC16A9_ENST00000395347.1_Silent_p.L480L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	480					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAGGCTGCCAGCAGCAGAATA	0.443000													5	122					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671609	54671609	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:54671609G>T	ENST00000332822.4	+	1	550	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	9					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					CAGCCTAGGGGTCACCCTCTA	0.761000													9	14					0.000274275	0.000280439	1	1	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													5	22					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8379271	8379271	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr18:8379271G>A	ENST00000332175.8	+	26	4717	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	PTPRM_ENST00000444013.1_Missense_Mutation_p.R1014H|PTPRM_ENST00000400053.4_Missense_Mutation_p.R1165H|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1241H|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1240H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1227	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCCCAGACCGCTGCCTGCCC	0.607000													17	80					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305714	204305714	+	Silent	SNP	A	A	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:204305714A>G	ENST00000319170.5	-	14	2498	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	RAPH1_ENST00000374493.3_Silent_p.C785C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	733					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGATGGGGCACACGGTGCAG	0.622000													8	80					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939779	64939779	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:64939779C>T	ENST00000377185.2	+	4	403	c.321C>T	c.(319-321)acC>acT	p.T107T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	107	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCGAGTATACCCACAGCAGCC	0.597000													40	143					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183738	61183738	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:61183738G>A	ENST00000340437.4	-	6	1013	c.933C>T	c.(931-933)ccC>ccT	p.P311P	CPSF7_ENST00000448745.1_Silent_p.P259P|CPSF7_ENST00000439958.3_Silent_p.P259P|CPSF7_ENST00000394888.4_Silent_p.P268P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	268	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGTGGGGGCATGAGAT	0.607000													38	19					0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128430636	128430636	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:128430636C>T	ENST00000173527.5	+	1	193	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	59						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCCTGTACGGCGACCAGATCG	0.632000													13	14					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2154548	2154548	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:2154548C>T	ENST00000262304.4	-	22	8320	c.8112G>A	c.(8110-8112)gcG>gcA	p.A2704A	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.A2704A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2704	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACGGTGCCCGCGGTGGTCT	0.692000													4	5					0	0	1	0	0
C7orf61	402573	broad.mit.edu	37	7	100061023	100061023	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:100061023G>A	ENST00000332375.3	-	2	595	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	117										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						CTGCAGGGCAGAGACCATGAG	0.627000													50	71					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40486033	40486033	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:40486033G>A	ENST00000264657.5	-	9	1144	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	STAT3_ENST00000404395.3_Missense_Mutation_p.R278C|STAT3_ENST00000389272.3_Missense_Mutation_p.R180C|STAT3_ENST00000588969.1_Missense_Mutation_p.R278C|STAT3_ENST00000585517.1_Missense_Mutation_p.R278C	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	278					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATTTGTTGACGGGTCTGAAGT	0.443000									Hyperimmunoglobulin E Recurrent Infection Syndrome				28	43					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549756	62549756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:62549756C>T	ENST00000294168.3	+	8	979	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	260					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCTGAATGACCACTGGACTCT	0.627000													35	51					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3281254	3281254	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:3281254C>T	ENST00000541430.2	+	6	697	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CELF5_ENST00000292672.2_Missense_Mutation_p.R221W	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	221					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCGGACGCTCCGGCGCATGCA	0.682000													7	107					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48526697	48526697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:48526697G>A	ENST00000340802.6	+	7	721	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	PFKM_ENST00000551804.1_Missense_Mutation_p.R95Q|PFKM_ENST00000547587.1_Missense_Mutation_p.R95Q|PFKM_ENST00000359794.5_Missense_Mutation_p.R95Q|PFKM_ENST00000312352.7_Missense_Mutation_p.R95Q|PFKM_ENST00000395233.2_Missense_Mutation_p.R95Q	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	95					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCGGGAACGAGAAGGACGA	0.572000													8	33					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143426	55143426	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:55143426C>T	ENST00000396331.1	+	6	756	c.399C>T	c.(397-399)ccC>ccT	p.P133P	LILRB1_ENST00000396321.2_Silent_p.P133P|LILRB1_ENST00000418536.2_Silent_p.P133P|LILRB1_ENST00000448689.1_Silent_p.P133P|LILRB1_ENST00000396327.3_Silent_p.P133P|LILRB1_ENST00000396315.1_Silent_p.P133P|LILRB1_ENST00000396317.1_Silent_p.P133P|LILRB1_ENST00000434867.2_Silent_p.P133P|LILRB1_ENST00000427581.2_Silent_p.P169P|LILRB1_ENST00000324602.7_Silent_p.P133P|LILRB1_ENST00000396332.4_Silent_p.P133P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	133	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		AGCCCAGCCCCGTGGTGAACT	0.552000										HNSCC(37;0.09)			7	115					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869676	22869676	+	Silent	SNP	C	C	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:22869676C>G	ENST00000302097.3	-	2	531	c.279G>C	c.(277-279)gtG>gtC	p.V93V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCATAGAGGTCACATGATTTG	0.468000													47	96					0	0	1	0	0
CDC123	8872	broad.mit.edu	37	10	12277056	12277056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr10:12277056C>T	ENST00000281141.4	+	8	779	c.499C>T	c.(499-501)Cga>Tga	p.R167*	CDC123_ENST00000378900.2_Nonsense_Mutation_p.R167*|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	167					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCTCGTTCTCCGAAAATGGTG	0.343000													38	72					0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93162805	93162805	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:93162805T>G	ENST00000344636.3	+	11	1165	c.981T>G	c.(979-981)taT>taG	p.Y327*		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	327	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAACAGATATCGACAGTGTA	0.313000													9	17					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100279950	100279950	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:100279950A>G	ENST00000275732.5	-	21	3965	c.2756T>C	c.(2755-2757)cTg>cCg	p.L919P		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	919										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCACCGTCCAGGCTGCCCGT	0.697000													20	32					0	0	1	0	0
PRSS8	5652	broad.mit.edu	37	16	31144141	31144141	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:31144141C>T	ENST00000317508.6	-	4	663	c.400G>A	c.(400-402)Gac>Aac	p.D134N	PRSS8_ENST00000568261.1_Missense_Mutation_p.D80N	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	134	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGTGCAATGTCGCCCTGGGAG	0.647000													85	156					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723402	48723402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:48723402C>T	ENST00000335017.1	+	1	640	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	110					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CACGCTCCTCCGGGTCAGCGG	0.701000													3	17					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956574	16956574	+	RNA	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:16956574C>T	ENST00000412962.1	-	0	294																											CTCTCGCTGTCGCTAAGCTGC	0.647000													7	59					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82443855	82443855	+	Silent	SNP	C	C	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr15:82443855C>G	ENST00000268206.7	-	18	3108	c.2940G>C	c.(2938-2940)ctG>ctC	p.L980L	EFTUD1_ENST00000359445.3_Silent_p.L929L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	980					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAGCTGCCATCAGGCGCTGAG	0.463000													69	84					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33643520	33643520	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:33643520C>T	ENST00000374316.5	+	26	4229	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1057C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CATGTTCCTGCGCGTGCTCAT	0.647000													4	40					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179004076	179004076	+	Splice_Site	SNP	G	G	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:179004076G>C	ENST00000377001.2	+	6	829	c.828_splice	c.e6-1	p.V277_splice	RUFY1_ENST00000437570.2_Splice_Site_p.V169_splice|RUFY1_ENST00000393438.2_Splice_Site_p.V169_splice|RUFY1_ENST00000319449.4_Splice_Site_p.V277_splice			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	277					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCGTTTAGGTTGGAGTAAT	0.308000										HNSCC(44;0.11)			25	51					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35451806	35451806	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:35451806C>T	ENST00000404801.1	-	2	512	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTTCCAGCATCACATCGCAGT	0.572000													30	71					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169111349	169111349	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:169111349C>T	ENST00000256935.8	+	8	836	c.756C>T	c.(754-756)gtC>gtT	p.V252V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	252					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAAACGGTCATAAGGTAGG	0.488000													15	92					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													7	134					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614338	3614338	+	RNA	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:3614338G>A	ENST00000301749.7	-	0	1005				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCCCGACGTGCGGGAAGA	0.647000													4	23					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169500137	169500137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:169500137C>T	ENST00000367796.3	-	15	5311	c.5110G>A	c.(5110-5112)Gct>Act	p.A1704T	F5_ENST00000367797.3_Missense_Mutation_p.A1699T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1699	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCTGAACAGCATTATCTTCC	0.473000													26	166					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71943719	71943719	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:71943719C>T	ENST00000541756.1	+	15	1966	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	INPPL1_ENST00000538751.1_Missense_Mutation_p.R346W|INPPL1_ENST00000298229.2_Missense_Mutation_p.R588W			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	588					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTGGGCGACCGGCAGCTCAA	0.602000													11	64					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172530	78172530	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:78172530C>T	ENST00000369947.2	-	1	960	c.591G>A	c.(589-591)tcG>tcA	p.S197S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	197					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCACGCATTCCGACACCTCCT	0.607000													4	71					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5969242	5969242	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr9:5969242C>T	ENST00000399933.3	-	3	988	c.989G>A	c.(988-990)cGt>cAt	p.R330H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R330H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	330								p.R330H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGAAGACAACGTTCCAATTC	0.398000													20	37					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390120	89390120	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:89390120G>T	ENST00000336596.2	+	4	1094	c.869G>T	c.(868-870)tGc>tTc	p.C290F	EPHA3_ENST00000494014.1_Missense_Mutation_p.C290F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C290F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	290	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGCTAAGTGCCCGCCTCAC	0.423000										TSP Lung(6;0.00050)			9	142					0.0581538	0.0581538	1	1	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	58					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333342	28333342	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:28333342C>T	ENST00000377255.3	+	7	1194	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ZKSCAN3_ENST00000341464.5_Silent_p.G151G|ZKSCAN3_ENST00000252211.2_Silent_p.G299G	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	299					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AACAGGAGGGCAGGCTACAAA	0.502000													5	83					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58312518	58312518	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:58312518G>A	ENST00000219299.4	+	8	1103	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	CCDC113_ENST00000443128.2_Missense_Mutation_p.E288K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	342						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGGATGTGGGAAAGGAAAGT	0.527000													25	31					0	0	1	0	0
GRHPR	9380	broad.mit.edu	37	9	37428545	37428545	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr9:37428545G>A	ENST00000607784.1	+	5	474	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Missense_Mutation_p.G157S			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	157					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GAGCACTGTCGGCATCATCGG	0.667000													16	154					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193332546	193332546	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:193332546G>A	ENST00000361510.2	+	2	301	c.67G>A	c.(67-69)Gga>Aga	p.G23R	OPA1_ENST00000361908.3_Missense_Mutation_p.G23R|OPA1_ENST00000361715.2_Missense_Mutation_p.G23R|OPA1_ENST00000361150.2_Missense_Mutation_p.G23R|OPA1_ENST00000361828.2_Missense_Mutation_p.G23R|OPA1_ENST00000392438.3_Missense_Mutation_p.G23R	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	23					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACACAGCTCTGGAATAAAAGG	0.368000													9	182					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62518930	62518930	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr20:62518930C>T	ENST00000217121.5	+	7	589	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000351424.4_Missense_Mutation_p.R153C|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000352482.4_Missense_Mutation_p.R164C|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000358548.4_Missense_Mutation_p.R144C	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	157					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTACTCCATCCGCCACTCAAT	0.582000													16	193					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591132	67591134	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:67591132_67591134delGAC	ENST00000521381.1	+	13	2341_2343	c.1725_1727delGAC	c.(1723-1728)aag>aa	p.KT575del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.KT305del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KT212del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KT575del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KT275del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	575					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGCTGAGAAAGACGAGAGACCAA	0.374			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			11	134	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128484980	128484981	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:128484980_128484981delAC	ENST00000325888.8	+	21	3722_3723	c.3461_3462delAC	c.(3460-3462)gfs	p.D1154fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.D1154fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1154					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGTGTTTGACCCGAGCAAGG	0.649													26	29	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													2	4	---	---	---	---					
SLC39A9	55334	broad.mit.edu	37	14	69925126	69925135	+	Frame_Shift_Del	DEL	TGCTTTTCTC	TGCTTTTCTC	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:69925126_69925135delTGCTTTTCTC	ENST00000031146.4	+	6	1220_1229	c.542_551delTGCTTTTCTC	c.(541-552)atfs	p.MLFS181fs	SLC39A9_ENST00000336643.5_Frame_Shift_Del_p.MLFS247fs|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Frame_Shift_Del_p.MLFS224fs			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	247					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GGAGTGGCCATGCTTTTCTCTGCCGGGACA	0.519													62	195	---	---	---	---					
EPX	8288	broad.mit.edu	37	17	56277000	56277000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:56277000delG	ENST00000225371.5	+	9	1492	c.1382delG	c.(1381-1383)cgfs	p.R461fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	461					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GTGGACCCACGGGTGGCCAAT	0.617													29	45	---	---	---	---					
