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
CNKSR1	10256	broad.mit.edu	37	1	26514729	26514729	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:26514729G>T	ENST00000531191.1	+	16	1692	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.V487L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.V494L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	494	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCATAGGTGGGTGCGTCATCT	0.567000													16	30					0.00400662	0.00414776	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504402	70504402	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:70504402A>T	ENST00000310961.5	+	22	3214	c.2796A>T	c.(2794-2796)aaA>aaT	p.K932N	LRRC7_ENST00000415775.2_Missense_Mutation_p.K211N|LRRC7_ENST00000035383.5_Missense_Mutation_p.K927N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	927						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAATTAGCAAAAGCACAGAGA	0.388000													25	44					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868308	73868308	+	Missense_Mutation	SNP	G	G	C	rs146954600	byFrequency	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:73868308G>C	ENST00000272425.3	-	2	597	c.448C>G	c.(448-450)Cgt>Ggt	p.R150G		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	150	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ATCCCCTGACGACGGTGCTCA	0.572000													35	54					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76558187	76558187	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:76558187G>C	ENST00000369981.3	+	11	1296	c.1017G>C	c.(1015-1017)cgG>cgC	p.R339R	MYO6_ENST00000369977.3_Silent_p.R339R|MYO6_ENST00000369985.4_Silent_p.R339R|MYO6_ENST00000369975.1_Silent_p.R339R			Q9UM54	MYO6_HUMAN	myosin VI	339	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.R339R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATCTCTTCCGGGTAGTAGCTG	0.373000													35	42					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762273	130762273	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:130762273G>T	ENST00000392429.1	+	2	3084	c.706G>T	c.(706-708)Ggt>Tgt	p.G236C	TMEM200A_ENST00000545622.1_Missense_Mutation_p.G236C|TMEM200A_ENST00000296978.3_Missense_Mutation_p.G236C	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	236						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTTAAATGAAGGTAAGAGTTC	0.483000													14	52					0.0202918	0.0206828	1	1	0
PHYHIP	9796	broad.mit.edu	37	8	22079139	22079139	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:22079139C>A	ENST00000454243.2	-	5	1294	c.720G>T	c.(718-720)gcG>gcT	p.A240A	PHYHIP_ENST00000321613.3_Silent_p.A240A	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	240										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGCCTTTGGGCGCCAGCACCA	0.617000													14	13					7.93312e-07	9.32582e-07	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140175103	140175103	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:140175103A>T	ENST00000526136.1	+	1	554	c.554A>T	c.(553-555)aAt>aTt	p.N185I	PCDHA2_ENST00000378132.1_Missense_Mutation_p.N185I|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.N185I|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACAGGCAAATGATGAACTA	0.458000													54	65					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26636755	26636755	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:26636755C>A	ENST00000381340.3	-	42	6304	c.5888G>T	c.(5887-5889)tGt>tTt	p.C1963F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1963					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGTACTTCCACAAATGCAGTC	0.433000													41	107					2.77807e-22	4.22298e-22	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2054619	2054619	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:2054619A>T	ENST00000382203.1	+	6	1278	c.1069A>T	c.(1069-1071)Agg>Tgg	p.R357W	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R357W|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R357W|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R357W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	357					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATAGCTCATAGGATACAAGA	0.408000													29	20					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956218	54956218	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:54956218A>T	ENST00000173898.7	+	12	3173	c.3061A>T	c.(3061-3063)Agt>Tgt	p.S1021C	TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.S552C|TRO_ENST00000375041.2_Missense_Mutation_p.S624C	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1021	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAGCTTTGGCAGTGCACTCAA	0.537000													26	51					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28482184	28482184	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:28482184C>A	ENST00000261609.7	-	26	4036	c.3928G>T	c.(3928-3930)Ggc>Tgc	p.G1310C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1310					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			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)		AGAAGCAGGCCCAGATTCCTC	0.453000													28	27					8.88839e-20	1.32824e-19	1	1	0
FAT3	120114	broad.mit.edu	37	11	92533533	92533533	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:92533533A>G	ENST00000298047.6	+	9	7371	c.7354A>G	c.(7354-7356)Aca>Gca	p.T2452A	FAT3_ENST00000525166.1_Missense_Mutation_p.T2302A|FAT3_ENST00000409404.2_Missense_Mutation_p.T2452A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2452	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGTTATCACATTGTCCAA	0.483000										TCGA Ovarian(4;0.039)			23	59					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100928221	100928221	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:100928221G>T	ENST00000336454.3	+	9	977	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000544534.1_Missense_Mutation_p.A208S|CDC14A_ENST00000542213.1_Missense_Mutation_p.A150S|CDC14A_ENST00000370125.2_Silent_p.T178T|CDC14A_ENST00000370124.3_Missense_Mutation_p.A208S|CDC14A_ENST00000361544.6_Missense_Mutation_p.A208S	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	208	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A208T(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCCTCTTCACGCCCCTGAAGC	0.413000													8	38					3.86212e-05	4.26526e-05	1	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43581015	43581015	+	RNA	SNP	C	C	G	rs147114641	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:43581015C>G	ENST00000253803.2	+	0	267																											tatctaatttctgttttcctA	0.423000													10	15					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091940	30091940	+	RNA	SNP	A	A	C	rs2015877	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr18:30091940A>C	ENST00000567636.1	+	0	315					NR_003558.1																						GTTTGAGCTGAAGTTTTAAAG	0.418000													3	28					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97043686	97043686	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:97043686A>G	ENST00000524981.3	+	2	61	c.61A>G	c.(61-63)Aca>Gca	p.T21A				Q6ZTY8	CL063_HUMAN		0										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAATTTTCTACATTTATTAA	0.323000													14	15					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750547	30750547	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:30750547C>A	ENST00000262518.4	+	34	9571	c.9186C>A	c.(9184-9186)ccC>ccA	p.P3062P	SRCAP_ENST00000395059.2_Silent_p.P3000P|SRCAP_ENST00000344771.4_Silent_p.P2904P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3062					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAAGCCGCCCCCTCACCCGCC	0.612000													15	32					1.3612e-06	1.57912e-06	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160662564	160662564	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:160662564C>A	ENST00000366953.3	-	9	1701	c.1443G>T	c.(1441-1443)acG>acT	p.T481T	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	481					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCAGGAATGGCGTGATGATGC	0.428000													13	26					0.000151284	0.000163995	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293547	145293547	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:145293547G>T	ENST00000342960.5	+	1	177	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.A48S|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	48										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)		AACTCAACTGGCCGGCTTCCT	0.438000													25	554					3.11337e-16	4.42735e-16	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	7					0.00909568	0.00934294	1	1	0
NPR3	4883	broad.mit.edu	37	5	32712047	32712047	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:32712047G>T	ENST00000265074.8	+	1	508	c.165G>T	c.(163-165)gtG>gtT	p.V55V	NPR3_ENST00000415167.2_Silent_p.V55V|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	55					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGATCGAGGTGCTGGTGTTAC	0.692000													5	7					0.000602214	0.000634604	1	1	0
RYR2	6262	broad.mit.edu	37	1	237580373	237580373	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:237580373T>C	ENST00000366574.2	+	11	1115	c.798T>C	c.(796-798)gcT>gcC	p.A266A	RYR2_ENST00000360064.6_Silent_p.A264A|RYR2_ENST00000542537.1_Silent_p.A250A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	266	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGGTGGCGCTGTGTCTGTTC	0.398000													11	39					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10104081	10104081	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:10104081G>A	ENST00000324907.9	+	6	949	c.813G>A	c.(811-813)atG>atA	p.M271I	GRHL1_ENST00000324883.5_Missense_Mutation_p.M82I|GRHL1_ENST00000405379.2_Missense_Mutation_p.M271I	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	271					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACAGTACCATGACGTACCTGA	0.438000													18	46					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3712668	3712668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:3712668C>A	ENST00000324932.7	-	28	4783	c.4363G>T	c.(4363-4365)Gag>Tag	p.E1455*	NUP98_ENST00000359171.4_Nonsense_Mutation_p.E1455*|NUP98_ENST00000355260.3_Nonsense_Mutation_p.E1455*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1472					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGAACCCTCCAGATACGAA	0.428000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								18	47					1.02788e-11	1.34592e-11	1	1	0
EEF2	1938	broad.mit.edu	37	19	3984142	3984142	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:3984142G>C	ENST00000309311.6	-	2	298	c.210C>G	c.(208-210)atC>atG	p.I70M	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	70						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTGACTTGATGGTGATGC	0.667000													23	47					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27378399	27378399	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:27378399G>T	ENST00000521400.1	+	10	1375		c.e10-1		EPHX2_ENST00000380476.3_Splice_Site|EPHX2_ENST00000521780.1_Splice_Site|EPHX2_ENST00000518379.1_Splice_Site|EPHX2_ENST00000517536.1_Splice_Site	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic						aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TTCTTCCTTAGGAGATGGTAA	0.463000													37	39					6.53348e-20	9.79096e-20	1	1	0
AKAP4	8852	broad.mit.edu	37	X	49958105	49958105	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:49958105G>T	ENST00000376056.2	-	5	1382	c.1232C>A	c.(1231-1233)aCa>aAa	p.T411K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.T420K|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.T411K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	420					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATGATGTCTGTAGCATTTTG	0.443000													53	89					4.44712e-29	7.12887e-29	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67943583	67943583	+	Silent	SNP	A	A	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:67943583A>C	ENST00000291041.5	+	2	1101	c.931A>C	c.(931-933)Agg>Cgg	p.R311R		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	311	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GCAGATCCTCAGGGGCAAGTA	0.597000													7	24					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31027133	31027133	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr21:31027133G>T	ENST00000399914.1	-	5	1298	c.777C>A	c.(775-777)acC>acA	p.T259T	GRIK1_ENST00000399913.1_Silent_p.T259T|GRIK1_ENST00000535441.1_Silent_p.T259T|GRIK1_ENST00000389124.2_Silent_p.T259T|GRIK1_ENST00000389125.3_Silent_p.T259T|GRIK1_ENST00000399907.1_Silent_p.T259T|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Silent_p.T259T|GRIK1_ENST00000309434.7_Silent_p.T259T|GRIK1_ENST00000327783.4_Silent_p.T259T			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	259					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CACTTACCAGGGTTGTGAAAA	0.413000													27	124					4.59853e-10	5.79196e-10	1	1	0
HMX2	3167	broad.mit.edu	37	10	124909220	124909220	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:124909220C>A	ENST00000339992.3	+	2	660	c.403C>A	c.(403-405)Cgg>Agg	p.R135R		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	135					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GGGGTCCGAGCGGCCGCGGGA	0.682000													13	14					0.000151284	0.000163995	1	1	0
BBS7	55212	broad.mit.edu	37	4	122766799	122766799	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:122766799G>C	ENST00000264499.4	-	11	1273	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	BBS7_ENST00000506636.1_Missense_Mutation_p.Q364E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	364					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGTTGATAATTCTCT	0.318000									Bardet-Biedl syndrome				9	22					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64410282	64410282	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:64410282C>T	ENST00000262043.3	+	9	3365	c.3025C>T	c.(3025-3027)Cat>Tat	p.H1009Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H1009Y			Q92576	PHF3_HUMAN	PHD finger protein 3	1009	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AACTCCTGATCATCTTATCAG	0.338000													11	20					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525289	112525289	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:112525289C>T	ENST00000369697.1	-	1	129	c.60G>A	c.(58-60)atG>atA	p.M20I	KCND3_ENST00000302127.4_Missense_Mutation_p.M20I|KCND3_ENST00000315987.2_Missense_Mutation_p.M20I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	20	Interaction with KCNIP2 (By similarity).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGCCACCGGCATCCACCCGA	0.687000													18	33					0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27849504	27849504	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:27849504G>A	ENST00000310791.2	+	1	77	c.9G>A	c.(7-9)caG>caA	p.Q3Q	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	3						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					AAATGGGGCAGAAAGCATCGC	0.463000													5	14					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71248018	71248018	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:71248018A>G	ENST00000418814.2	+	20	4756	c.4142A>G	c.(4141-4143)aAa>aGa	p.K1381R	FAM135A_ENST00000361499.3_Missense_Mutation_p.K1185R|FAM135A_ENST00000370479.3_Missense_Mutation_p.K1168R|FAM135A_ENST00000457062.2_Missense_Mutation_p.K1168R|FAM135A_ENST00000505868.1_Missense_Mutation_p.K1381R|FAM135A_ENST00000505769.1_Missense_Mutation_p.K961R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1381										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CAGAAATGGAAAAAATCAGGT	0.308000													16	12					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38160619	38160619	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:38160619C>A	ENST00000378505.2	-	9	1116	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	RPGR_ENST00000318842.7_Missense_Mutation_p.G314C|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.G314C|RPGR_ENST00000342811.3_Missense_Mutation_p.G314C|RPGR_ENST00000338898.3_Missense_Mutation_p.G314C|RPGR_ENST00000309513.3_Missense_Mutation_p.G314C	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	314					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TACATAAGGCCGATATCTAAA	0.313000													9	27					1.33987e-11	1.7501e-11	1	1	0
OR7G1	125962	broad.mit.edu	37	19	9225933	9225933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:9225933G>T	ENST00000293614.1	-	1	506	c.507C>A	c.(505-507)tgC>tgA	p.C169*	OR7G1_ENST00000541538.1_Nonsense_Mutation_p.C169*			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CAACGTTTTTGCAGAAGGACA	0.448000													29	63					1.30988e-24	2.04403e-24	1	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69049868	69049868	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:69049868G>A	ENST00000295381.3	+	10	2013	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A493T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A526T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A525T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A533T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.A226T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	532					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGATACTCTTGCCAGTCCAAA	0.512000													45	84					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92374658	92374658	+	Silent	SNP	C	C	G	rs144974209		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:92374658C>G	ENST00000276609.3	+	12	1631	c.1392C>G	c.(1390-1392)acC>acG	p.T464T	SLC26A7_ENST00000309536.2_Silent_p.T464T|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.T464T	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	464						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.T464T(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTGTACCATAGCTATAG	0.393000													45	83					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100494032	100494032	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:100494032G>T	ENST00000395209.3	+	6	1028	c.501G>T	c.(499-501)caG>caT	p.Q167H	DRP2_ENST00000541709.1_Missense_Mutation_p.Q89H|DRP2_ENST00000402866.1_Missense_Mutation_p.Q167H|DRP2_ENST00000538510.1_Missense_Mutation_p.Q167H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	167					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGTCAGCTCAGGCCTTCCTGT	0.478000													36	72					5.8336e-16	8.25127e-16	1	1	0
ADAM28	10863	broad.mit.edu	37	8	24199223	24199223	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:24199223C>A	ENST00000265769.4	+	16	1893	c.1783C>A	c.(1783-1785)Caa>Aaa	p.Q595K	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.Q342K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	595	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGACACAAGTCAAGAAATAGG	0.418000													34	69					6.00712e-18	8.80268e-18	1	1	0
CFH	3075	broad.mit.edu	37	1	196697568	196697568	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:196697568A>T	ENST00000367429.4	+	15	2569	c.2329A>T	c.(2329-2331)Ata>Tta	p.I777L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	777	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAATTCTAACATAAGGTACAG	0.318000													26	26					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899728	130899728	+	Silent	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:130899728A>T	ENST00000392984.3	-	2	1571	c.828T>A	c.(826-828)tcT>tcA	p.S276S	CCDC74B_ENST00000409943.3_Silent_p.S108S|CCDC74B_ENST00000409128.1_Silent_p.S150S|CCDC74B_ENST00000310463.6_Silent_p.S174S			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	174										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGGACTTGACAGACTGGAAGC	0.642000													16	30					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219757907	219757907	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:219757907G>C	ENST00000258411.3	+	4	1801	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	390					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCGCAGCGAGCGCTGCCA	0.692000													5	12					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008501	88008501	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:88008501C>A	ENST00000276127.4	+	3	345	c.86C>A	c.(85-87)aCa>aAa	p.T29K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.T29K	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	29						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GACTGTAGTACAGACATAGAG	0.423000													7	20					0.0293803	0.0298315	1	1	0
TMEM52	339456	broad.mit.edu	37	1	1849326	1849326	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:1849326G>A	ENST00000378602.3	-	2	820	c.580C>T	c.(580-582)Cct>Tct	p.P194S	TMEM52_ENST00000310991.3_Missense_Mutation_p.P209S			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	209						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCTTCAAGGGGCACCAGGG	0.622000													37	95					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452765	106452765	+	RNA	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:106452765C>A	ENST00000390594.2	-	0	320																											CATGGTGACCCTGCCCTGAAA	0.562000													98	104					7.79919e-48	1.29335e-47	1	1	0
SCML2	10389	broad.mit.edu	37	X	18342067	18342067	+	Missense_Mutation	SNP	T	T	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:18342067T>G	ENST00000251900.4	-	5	468	c.309A>C	c.(307-309)agA>agC	p.R103S		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	103					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AAAAATCATTTCTGTTGTCAC	0.463000													19	54					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730113	37730113	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:37730113C>G	ENST00000330843.4	-	4	2219	c.2207G>C	c.(2206-2208)gGa>gCa	p.G736A	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	736					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCTCACAGCTCCATCACTGCT	0.542000													35	31					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45213104	45213104	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:45213104C>T	ENST00000372217.1	+	2	403	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372218.4_Missense_Mutation_p.L72F|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372224.4_Missense_Mutation_p.L72F			Q99661	KIF2C_HUMAN	kinesin family member 2C	72	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTTACAGCTTCTTCCCTTACA	0.433000													14	44					0	0	1	0	0
TRAJ42	28713	broad.mit.edu	37	14	22965926	22965926	+	RNA	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:22965926C>G	ENST00000390495.1	+	0	55																											ACTAAACTCTCTGTTAAACCA	0.418000													16	28					0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67943526	67943526	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:67943526A>C	ENST00000291041.5	+	2	1044	c.874A>C	c.(874-876)Agt>Cgt	p.S292R		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	292	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CATCCTACTCAGTGGCACCAT	0.587000													9	38					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396695	197396695	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:197396695A>T	ENST00000367397.1	+	3	1241	c.383A>T	c.(382-384)cAa>cTa	p.Q128L	CRB1_ENST00000367399.2_Missense_Mutation_p.Q635L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q678L|CRB1_ENST00000367400.3_Missense_Mutation_p.Q747L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.Q228L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	747	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAACGCTTCAACCATCAGGC	0.483000													11	57					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817610	77817610	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:77817610G>C	ENST00000334306.2	-	1	1392	c.1393C>G	c.(1393-1395)Cac>Gac	p.H465D		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	465																	TGAGAGATGTGACCATCCCCT	0.607000													31	104					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178086	72178086	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr18:72178086G>A	ENST00000324262.4	+	6	811	c.495G>A	c.(493-495)atG>atA	p.M165I	CNDP2_ENST00000324301.8_Missense_Mutation_p.M81I|CNDP2_ENST00000579847.1_Missense_Mutation_p.M165I	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	165						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCGAAGGCATGGAGGAGTCAG	0.498000													27	26					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128506	20128506	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:20128506G>T	ENST00000334554.7	+	7	1006	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.G197W|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.G289W	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	289						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TAGTGACAACGGGCTGAAGGC	0.652000													12	28					0.00010058	0.000109931	1	1	0
CCDC17	149483	broad.mit.edu	37	1	46087339	46087339	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:46087339G>A	ENST00000421127.2	-	9	1271	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	CCDC17_ENST00000343901.2_Silent_p.D353D|CCDC17_ENST00000464739.1_Intron|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Silent_p.D385D	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	385										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					GGCCCAGCATGTCCGATGTGG	0.597000													4	28					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144806566	144806566	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:144806566G>T	ENST00000367545.3	+	27	3733	c.3733G>T	c.(3733-3735)Gaa>Taa	p.E1245*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1245					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTGGATCTTGAAACTACCTG	0.443000													48	78					5.7616e-29	9.20812e-29	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24433712	24433712	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:24433712G>A	ENST00000330966.7	-	4	418	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	MYOM3_ENST00000374434.3_Silent_p.L85L|MYOM3_ENST00000329601.7_Silent_p.L85L|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	85										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCGTCTCAGCTGGGCTTCC	0.662000													5	8					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019476	76019476	+	Missense_Mutation	SNP	C	C	A	rs77743816	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:76019476C>A	ENST00000275560.3	-	11	1975	c.1628G>T	c.(1627-1629)cGt>cTt	p.R543L	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	543	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TTCTTCCCCACGGCACTTGAC	0.632000													35	66					7.11191e-15	9.82297e-15	1	1	0
GPR6	2830	broad.mit.edu	37	6	110300781	110300781	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:110300781G>T	ENST00000414000.2	+	3	750	c.511G>T	c.(511-513)Gtc>Ttc	p.V171F	GPR6_ENST00000275169.3_Missense_Mutation_p.V156F			P46095	GPR6_HUMAN	G protein-coupled receptor 6	156						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCCGCCTCTGTCAGCAGCCT	0.612000													64	68					4.80186e-42	7.88877e-42	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75055450	75055450	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:75055450C>G	ENST00000326665.5	-	12	2259	c.2041G>C	c.(2041-2043)Gca>Cca	p.A681P	C1orf173_ENST00000420661.2_Missense_Mutation_p.A484P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	681	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAACCCTCTGCAATCTCTTGG	0.428000													50	117					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62935831	62935831	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:62935831G>T	ENST00000512091.1	+	26	4414	c.3667G>T	c.(3667-3669)Gct>Tct	p.A1223S	LPHN3_ENST00000507164.1_Missense_Mutation_p.A1325S|LPHN3_ENST00000507625.1_Silent_p.G1264G|LPHN3_ENST00000514996.1_Silent_p.G1239G|LPHN3_ENST00000504896.1_Missense_Mutation_p.A1266S|LPHN3_ENST00000508946.1_Silent_p.G1248G|LPHN3_ENST00000514157.1_Missense_Mutation_p.A1257S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A1214S|LPHN3_ENST00000506720.1_Silent_p.G1316G|LPHN3_ENST00000511324.1_Missense_Mutation_p.A1282S|LPHN3_ENST00000545650.1_Silent_p.G1205G|LPHN3_ENST00000508693.1_Missense_Mutation_p.A1334S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A1291S|LPHN3_ENST00000514591.1_Silent_p.G1205G|LPHN3_ENST00000506746.1_Silent_p.G1307G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTCAGAGGGGCTTCTGAACA	0.403000													15	34					1.49906e-05	1.69808e-05	1	1	0
TRAV12-1	28674	broad.mit.edu	37	14	22309474	22309474	+	RNA	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:22309474G>A	ENST00000390433.1	+	0	52																											CAGTTAAGCTGTGAGTTGGGC	0.383000													11	21					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727508	141727508	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:141727508G>C	ENST00000475668.2	+	10	1248	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	MGAM_ENST00000549489.2_Missense_Mutation_p.E398D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	398	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGTCGTGGAGAGAAATCGCG	0.448000													8	21					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133976829	133976829	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:133976829G>T	ENST00000298622.4	+	19	2469	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCGTGGAGCAGTGGAAGCGCC	0.657000													4	13					0.00909568	0.00934294	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248028073	248028073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:248028073C>T	ENST00000366481.3	+	3	631	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	195						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTTCTGGCCCAGGAGGAGCA	0.612000													20	21					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113871424	113871424	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:113871424C>A	ENST00000297405.5	-	11	1949	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D465Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D569Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D529Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	569	CUB 3.					integral to membrane|plasma membrane				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						GCATTGCTGTCATACTGGAAC	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	54					2.48551e-13	3.31192e-13	1	1	0
MSH2	4436	broad.mit.edu	37	2	47739523	47739523	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:47739523G>T	ENST00000406134.1	+	16	2778	c.2716G>T	c.(2716-2718)Gct>Tct	p.A906S	MSH2_ENST00000461394.1_3'UTR			P43246	MSH2_HUMAN	mutS homolog 2	0					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAGATCTGCTTGCAGTCG	0.473000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	14					1.26484e-09	1.57436e-09	1	1	0
HNRNPL	3191	broad.mit.edu	37	19	39330790	39330790	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:39330790C>G	ENST00000221419.5	-	8	1545	c.1179G>C	c.(1177-1179)aaG>aaC	p.K393N	AC104534.3_ENST00000594769.1_Missense_Mutation_p.R10T|HNRNPL_ENST00000600873.1_Missense_Mutation_p.K260N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	393	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CACAGTTCATCTTAGATTGAT	0.597000													49	80					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988240	113988240	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:113988240G>T	ENST00000297405.5	-	7	1412	c.1168C>A	c.(1168-1170)Ctt>Att	p.L390I	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.L390I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L350I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	390						integral to membrane|plasma membrane				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						TCCTCGGAAAGTCTATGGATG	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			60	149					1.14385e-22	1.7438e-22	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835865	12835865	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:12835865G>A	ENST00000357726.4	+	2	494	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	156										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAAGAATGGGATGCTGGAT	0.537000													42	106					0	0	1	0	0
NFYB	4801	broad.mit.edu	37	12	104517137	104517137	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:104517137G>A	ENST00000240055.3	-	5	523	c.296C>T	c.(295-297)tCt>tTt	p.S99F	NFYB_ENST00000551727.1_Missense_Mutation_p.S99F	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	99	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACTTGCTTCAGATGTTATAAA	0.343000													12	28					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159688834	159688834	+	Splice_Site	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:159688834A>T	ENST00000297267.9	+	22	5646		c.e22-1		FNDC1_ENST00000340366.6_Splice_Site	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1							extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCTTCATGCAGATACATTCT	0.433000													4	14					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57005005	57005005	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:57005005G>A	ENST00000200676.3	+	6	718	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CETP_ENST00000379780.2_Silent_p.L196L|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_Silent_p.L131L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	196					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCTGGTCCTGAAGGGACAGG	0.592000													24	66					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584930	30584930	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:30584930G>C	ENST00000217299.3	+	3	1584	c.1410G>C	c.(1408-1410)acG>acC	p.T470T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	470						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGCCATCACGAGTCCCCCCA	0.682000													18	30					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188412	57188412	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:57188412C>A	ENST00000331162.4	-	5	980	c.710G>T	c.(709-711)gGa>gTa	p.G237V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGGTTTCTCTCCAGTATGAAT	0.398000													8	18					4.68919e-08	5.66343e-08	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905813	144905813	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:144905813G>C	ENST00000370490.1	+	1	6125	c.1870G>C	c.(1870-1872)Gga>Cga	p.G624R	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G624R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G624R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G624R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G624R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	624						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATTCTGGGATTGCTTGT	0.453000													45	80					0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36356313	36356313	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:36356313T>A	ENST00000357058.3	-	6	1253	c.647A>T	c.(646-648)cAg>cTg	p.Q216L	RNF38_ENST00000377885.2_Missense_Mutation_p.Q216L|RNF38_ENST00000350199.4_Missense_Mutation_p.Q216L|RNF38_ENST00000377877.4_Missense_Mutation_p.Q223L|RNF38_ENST00000259605.6_Missense_Mutation_p.Q299L|RNF38_ENST00000353739.4_Missense_Mutation_p.Q249L	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	299							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TCGTGATTGCTGTGTTTGGAA	0.378000													17	39					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805161	43805161	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:43805161C>T	ENST00000372470.3	+	4	653	c.611C>T	c.(610-612)tCt>tTt	p.S204F	MPL_ENST00000413998.2_Missense_Mutation_p.S204F	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	204	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.S204F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACTCAGCCTCTGCTCTGGAC	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						32	64					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113382470	113382470	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:113382470G>A	ENST00000548514.1	+	3	721	c.650G>A	c.(649-651)gGa>gAa	p.G217E	OAS3_ENST00000546638.1_Intron|OAS3_ENST00000228928.7_Intron|RP1-71H24.1_ENST00000552784.1_RNA			Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	960	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AAGCCACTTGGAAGGGTTTCT	0.463000													21	46					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032405	30032405	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:30032405G>A	ENST00000328224.6	-	2	3054	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	607						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTCTGACTTGTCCCCCAGGG	0.463000													24	46					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510916	104510916	+	Missense_Mutation	SNP	G	G	A	rs146482011		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:104510916G>A	ENST00000304883.2	-	5	1461	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	441						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAATTCCTGCGAGAGCAGCCA	0.473000													53	90					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084415	248084415	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:248084415C>T	ENST00000319968.4	+	1	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGAGTATCGTTTTGACCT	0.483000													20	78					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894347	219894347	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:219894347C>A	ENST00000341552.5	-	11	1511	c.1428G>T	c.(1426-1428)tgG>tgT	p.W476C	CCDC108_ENST00000409865.3_Missense_Mutation_p.W465C|CCDC108_ENST00000410037.1_Missense_Mutation_p.W411C|CCDC108_ENST00000441968.1_Missense_Mutation_p.W476C|CCDC108_ENST00000453220.1_Missense_Mutation_p.W476C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	476						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGGTTGACCCAGCTGAAGT	0.562000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	77					2.12542e-12	2.79688e-12	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36110652	36110652	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:36110652G>T	ENST00000203166.5	+	15	1423	c.1398G>T	c.(1396-1398)agG>agT	p.R466S	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	466					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCGGCACAGGCCGGGAGAGT	0.632000													3	8					1	1	1	1	0
MCAT	27349	broad.mit.edu	37	22	43533293	43533293	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:43533293C>A	ENST00000290429.5	-	3	568	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	175					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CGGATTTTCACTGCATACAAA	0.537000											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	26					1.32136e-16	1.89945e-16	1	1	0
IL17RC	84818	broad.mit.edu	37	3	9965591	9965591	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:9965591G>A	ENST00000295981.3	+	8	1080	c.862G>A	c.(862-864)Gat>Aat	p.D288N	IL17RC_ENST00000383812.4_Missense_Mutation_p.D202N|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.D217N|IL17RC_ENST00000455057.1_Missense_Mutation_p.D202N|IL17RC_ENST00000413608.1_Missense_Mutation_p.D217N|IL17RC_ENST00000416074.2_Missense_Mutation_p.D73N	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	288						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGTGTCAGCAGATGGTGACAA	0.587000													27	40					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166837	44166837	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:44166837G>T	ENST00000431837.1	+	4	549	c.241G>T	c.(241-243)Gta>Tta	p.V81L	IRAK4_ENST00000440781.2_Missense_Mutation_p.V81L|IRAK4_ENST00000448290.2_Missense_Mutation_p.V205L|IRAK4_ENST00000551736.1_Missense_Mutation_p.V205L	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	205	Death.			V -> A (in Ref. 1; AAM15772).	innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TAAAGGCTACGTAAATAACAC	0.363000													5	21					0.000602214	0.000634604	1	1	0
GLT1D1	144423	broad.mit.edu	37	12	129432001	129432001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:129432001G>T	ENST00000442111.2	+	10	866	c.778G>T	c.(778-780)Gag>Tag	p.E260*	GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.E180*|GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.E265*|GLT1D1_ENST00000542193.1_Nonsense_Mutation_p.E177*			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	260					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGCAATTTTGGAGGTAATTAT	0.458000													14	46					1.05317e-09	1.32021e-09	1	1	0
FAM120A	23196	broad.mit.edu	37	9	96294523	96294523	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:96294523G>T	ENST00000277165.6	+	10	2015	c.1821G>T	c.(1819-1821)caG>caT	p.Q607H	FAM120A_ENST00000333936.5_Missense_Mutation_p.Q635H|FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000340893.4_Missense_Mutation_p.Q607H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	607						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGTTCGTCAGTATGTTTACG	0.433000													51	115					1.22102e-19	1.81949e-19	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43308006	43308006	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:43308006G>A	ENST00000361428.2	-	10	3807	c.3730C>T	c.(3730-3732)Cct>Tct	p.P1244S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1244	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTTTTTCAGGGGAGTTCCTA	0.398000													56	80					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567818	5567818	+	Splice_Site	SNP	T	T	A	rs11546908		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:5567818T>A	ENST00000331789.5	-	5	994		c.e5-2			NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta						'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACTCCATGCCTGAGAGGGAAA	0.562000													61	114					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792879	131792879	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:131792879C>A	ENST00000286355.5	-	18	5605	c.3513G>T	c.(3511-3513)ctG>ctT	p.L1171L	ADCY8_ENST00000377928.3_Silent_p.L1040L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1171					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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACTCTTCCCAGAAGAAAGT	0.512000										HNSCC(32;0.087)			36	102					3.76114e-14	5.10164e-14	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81591241	81591241	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:81591241T>A	ENST00000356860.3	-	36	3273	c.2935A>T	c.(2935-2937)Agt>Tgt	p.S979C	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S191C|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S991C	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	991						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATACACCACTGAATGATTTA	0.368000													20	36					0	0	1	0	0
FAM216B	144809	broad.mit.edu	37	13	43361012	43361012	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr13:43361012G>T	ENST00000537894.1	+	3	336	c.213G>T	c.(211-213)caG>caT	p.Q71H	FAM216B_ENST00000313851.1_Missense_Mutation_p.Q71H	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN	family with sequence similarity 216, member B	71																	AGCACCAACAGCTGCTTGGTA	0.473000													24	107					3.7963e-18	5.57846e-18	1	1	0
WDR64	128025	broad.mit.edu	37	1	241886720	241886720	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:241886720C>A	ENST00000366552.2	+	9	1353	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	WDR64_ENST00000437684.2_Silent_p.V382V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	382										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AACATGTCGTCAGCCTTTCCT	0.393000													13	47					5.50884e-06	6.30774e-06	1	1	0
CD276	80381	broad.mit.edu	37	15	73994711	73994711	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:73994711C>T	ENST00000318443.5	+	3	497	c.195C>T	c.(193-195)ctC>ctT	p.L65L	CD276_ENST00000564751.1_Silent_p.L65L|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Silent_p.L65L|CD276_ENST00000561213.1_Silent_p.L65L	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	65	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						AGCTCAACCTCATCTGGCAGC	0.637000													9	30					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71488669	71488669	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:71488669C>T	ENST00000395275.2	-	5	862	c.474G>A	c.(472-474)ggG>ggA	p.G158G	CALN1_ENST00000412588.1_Silent_p.G158G|CALN1_ENST00000405452.2_Silent_p.G116G|CALN1_ENST00000431984.1_Silent_p.G116G|CALN1_ENST00000329008.5_Silent_p.G116G|CALN1_ENST00000395276.2_Silent_p.G116G	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	116						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTATCGTGTTCCCAAGAAAAC	0.418000													25	54					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													4	75					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79824409	79824409	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:79824409G>T	ENST00000360280.3	+	6	716	c.456G>T	c.(454-456)caG>caT	p.Q152H	VPS13A_ENST00000376636.3_Missense_Mutation_p.Q152H|VPS13A_ENST00000376634.4_Missense_Mutation_p.Q152H|VPS13A_ENST00000357409.5_Missense_Mutation_p.Q152H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	152					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAATCTTCAGGTGAAAATTT	0.249000													4	17					0.014758	0.0151005	1	1	0
FAM49B	51571	broad.mit.edu	37	8	130874577	130874577	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:130874577T>C	ENST00000519824.2	-	5	472	c.199A>G	c.(199-201)Atc>Gtc	p.I67V	FAM49B_ENST00000519110.1_Missense_Mutation_p.I67V|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000519540.1_Missense_Mutation_p.I67V|FAM49B_ENST00000517654.1_Missense_Mutation_p.I67V|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.I67V|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000401979.2_Missense_Mutation_p.I67V|FAM49B_ENST00000522746.1_Missense_Mutation_p.I67V	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	67										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GGATGCTGGATTGCCTTCAAA	0.338000													31	70					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3727503	3727503	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:3727503C>A	ENST00000252505.3	+	5	379	c.217C>A	c.(217-219)Cgg>Agg	p.R73R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	92							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGGAGTCATCCGGGGCTTCGA	0.552000										HNSCC(21;0.051)			31	56					1.45844e-13	1.96814e-13	1	1	0
HIST1H3I	8354	broad.mit.edu	37	6	27839699	27839699	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:27839699C>G	ENST00000328488.2	-	1	400	c.395G>C	c.(394-396)cGa>cCa	p.R132P		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTCTCCCCTCGGATGCGGCG	0.522000													33	180					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687395	130687395	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:130687395C>A	ENST00000388747.4	-	9	952	c.908G>T	c.(907-909)cGc>cTc	p.R303L	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R100L	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	303	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCTGGCCGTGCGGAAGATGAG	0.617000													23	48					1.38267e-23	2.13245e-23	1	1	0
CORIN	10699	broad.mit.edu	37	4	47602303	47602303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:47602303G>T	ENST00000273857.4	-	21	2873	c.2874C>A	c.(2872-2874)taC>taA	p.Y958*	CORIN_ENST00000505909.1_Nonsense_Mutation_p.Y921*|CORIN_ENST00000502252.1_Nonsense_Mutation_p.Y891*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.Y819*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	958	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCATGTCAAAGTAGGACTGAC	0.393000													15	31					1.3612e-06	1.57912e-06	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318928	21318928	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:21318928C>T	ENST00000583088.1	+	3	1169	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L92F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GCTGGCCTTCCTTGCCTCCTG	0.617000										Prostate(3;0.18)			12	67					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975721	152975721	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:152975721C>A	ENST00000331860.3	+	3	375	c.225C>A	c.(223-225)acC>acA	p.T75T	SPRR3_ENST00000295367.4_Silent_p.T75T|SPRR3_ENST00000542696.1_Silent_p.T75T	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	75	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGCTGTACCAAGGTCCCTG	0.577000													15	70					6.31663e-08	7.59431e-08	1	1	0
TMEM55A	55529	broad.mit.edu	37	8	92008890	92008890	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:92008890C>A	ENST00000285419.3	-	6	936	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	208						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACAGTTAACCCAACTCCAATG	0.423000													3	10					0.115264	0.116586	1	1	0
ENPP3	5169	broad.mit.edu	37	6	132047238	132047238	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:132047238G>C	ENST00000414305.1	+	21	2179	c.1851G>C	c.(1849-1851)caG>caC	p.Q617H	ENPP3_ENST00000358229.5_Missense_Mutation_p.Q617H|ENPP3_ENST00000357639.3_Missense_Mutation_p.Q617H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	617	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGGTACTGCAGAAGAACGTGG	0.398000													12	55					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988233	26988233	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:26988233C>A	ENST00000231021.4	-	2	380	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	70	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATTGTGTGTCAGTACCTGTG	0.393000													4	14					0.150653	0.151513	1	1	0
PDE8A	5151	broad.mit.edu	37	15	85664124	85664124	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:85664124G>A	ENST00000310298.4	+	19	2083	c.1831G>A	c.(1831-1833)Gct>Act	p.A611T	PDE8A_ENST00000339708.5_Missense_Mutation_p.A565T|PDE8A_ENST00000394553.1_Missense_Mutation_p.A611T|PDE8A_ENST00000557957.1_Missense_Mutation_p.A539T			O60658	PDE8A_HUMAN	phosphodiesterase 8A	611	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CCTGTGTAATGCTGGAAGTGA	0.507000													26	57					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294630	124294630	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:124294630G>C	ENST00000356130.3	-	1	159	c.138C>G	c.(136-138)atC>atG	p.I46M		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I46I(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAATTAAGGTGATCAAGCCCA	0.448000													24	57					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926552	130926552	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:130926552C>G	ENST00000261655.4	-	8	1457	c.1294G>C	c.(1294-1296)Gtc>Ctc	p.V432L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.V340L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V340L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	432	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGGCCTTGACGATGTCGAAC	0.562000													23	58					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121676734	121676734	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:121676734G>T	ENST00000393386.2	+	18	5776	c.5365G>T	c.(5365-5367)Gat>Tat	p.D1789Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D922Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1789	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATTATGTTGATGTAAGCAT	0.303000													8	22					5.18039e-06	5.95745e-06	1	1	0
DMD	1756	broad.mit.edu	37	X	31222183	31222183	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:31222183C>A	ENST00000357033.4	-	67	9908	c.9702G>T	c.(9700-9702)ctG>ctT	p.L3234L	DMD_ENST00000474231.1_Silent_p.L774L|DMD_ENST00000378723.3_Silent_p.L166L|DMD_ENST00000359836.1_Silent_p.L774L|DMD_ENST00000378680.2_Silent_p.L166L|DMD_ENST00000361471.4_Silent_p.L166L|DMD_ENST00000343523.2_Silent_p.L774L|DMD_ENST00000541735.1_Silent_p.L774L|DMD_ENST00000378677.2_Silent_p.L3230L|DMD_ENST00000378707.3_Silent_p.L774L|DMD_ENST00000378702.4_Silent_p.L166L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3234	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAAGGAGGCCCAGCCTGCGCT	0.483000													27	38					1.2476e-16	1.79831e-16	1	1	0
FLNA	2316	broad.mit.edu	37	X	153586887	153586887	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:153586887G>C	ENST00000422373.1	-	27	4772	c.4524C>G	c.(4522-4524)acC>acG	p.T1508T	FLNA_ENST00000369850.3_Silent_p.T1508T|FLNA_ENST00000360319.4_Silent_p.T1508T|FLNA_ENST00000344736.4_Silent_p.T1508T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1508	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATAATTGACGGTCTGGGTGC	0.607000													23	61					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107141350	107141350	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:107141350C>G	ENST00000392842.1	+	16	2183	c.1769C>G	c.(1768-1770)cCa>cGa	p.P590R	RFX4_ENST00000357881.4_Missense_Mutation_p.P599R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P496R	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	590					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACAGGATACCAGTTTATCCC	0.522000													24	55					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373964	86373964	+	Silent	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:86373964T>A	ENST00000604798.1	-	8	1744	c.540A>T	c.(538-540)ccA>ccT	p.P180P	MGAT4C_ENST00000332156.1_Silent_p.P180P|MGAT4C_ENST00000393205.2_Silent_p.P209P|MGAT4C_ENST00000552808.2_Silent_p.P180P|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Silent_p.P180P|MGAT4C_ENST00000549405.2_Silent_p.P180P			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	180					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATCTAGGATTGGGTAATACT	0.378000													30	81					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30107735	30107735	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:30107735T>A	ENST00000331968.5	-	6	1174	c.945A>T	c.(943-945)aaA>aaT	p.K315N	PRKD1_ENST00000415220.2_Missense_Mutation_p.K323N|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	315					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTTGGTACTTTCGGTGCAC	0.393000													22	40					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150906979	150906979	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:150906979G>A	ENST00000329903.4	+	1	57	c.24G>A	c.(22-24)gtG>gtA	p.V8V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	8					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATGGTGTGAAGAGCTCCC	0.522000													56	107					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54603066	54603066	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:54603066G>A	ENST00000284648.6	-	3	240	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	OSCAR_ENST00000391760.1_Silent_p.L15L|OSCAR_ENST00000358375.4_Silent_p.L15L|OSCAR_ENST00000391761.1_Intron|OSCAR_ENST00000356532.3_Silent_p.L15L|OSCAR_ENST00000351806.4_Intron|OSCAR_ENST00000359649.4_Silent_p.L15L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	15						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GTGTGACACAGAGGCCCTGTA	0.473000													25	36					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545503	48545503	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:48545503C>T	ENST00000508540.1	-	1	824	c.672G>A	c.(670-672)ctG>ctA	p.L224L	ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Silent_p.L224L|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	224					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGACAGCTTCAGCTCCTCCA	0.587000													41	73					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36015787	36015787	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:36015787C>A	ENST00000452271.2	-	2	1706	c.1678G>T	c.(1678-1680)Gcc>Tcc	p.A560S	SBSN_ENST00000518157.1_Missense_Mutation_p.A217S	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	217						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGGTTGTGGCCCCTCCTTGA	0.612000													13	20					0.00185496	0.00193927	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378476	31378476	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:31378476A>G	ENST00000297142.3	-	2	729	c.407T>C	c.(406-408)tTa>tCa	p.L136S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	136	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGTCGTAAAGTCTCTAT	0.448000													36	45					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71236168	71236168	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:71236168T>C	ENST00000418814.2	+	15	3995	c.3381T>C	c.(3379-3381)ctT>ctC	p.L1127L	FAM135A_ENST00000361499.3_Silent_p.L931L|FAM135A_ENST00000370479.3_Silent_p.L914L|FAM135A_ENST00000457062.2_Silent_p.L914L|FAM135A_ENST00000505868.1_Silent_p.L1127L|FAM135A_ENST00000505769.1_Silent_p.L707L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1127										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAAAGACTTACAAAATCTG	0.378000													40	40					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162818	2162818	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:2162818C>T	ENST00000262304.4	-	13	3340	c.3132G>A	c.(3130-3132)ctG>ctA	p.L1044L	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.L1044L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1044	PKD 5.				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						CCGAGTCCACCAGCACGCCCG	0.677000													16	17					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149809742	149809742	+	Splice_Site	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:149809742G>C	ENST00000370396.2	+	8	583	c.528_splice	c.e8-1	p.G177_splice	MTM1_ENST00000543350.1_Splice_Site_p.G62_splice|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Splice_Site_p.G82_splice|MTM1_ENST00000413012.2_Splice_Site_p.G140_splice	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	177	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCACAGGGCTTGCCCAA	0.438000													28	44					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472696	70472696	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:70472696G>T	ENST00000373998.1	-	2	1107	c.410C>A	c.(409-411)cCt>cAt	p.P137H	ZMYM3_ENST00000373988.1_Missense_Mutation_p.P137H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P137H|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P137H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P137H|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P137H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P137H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P137H	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	137					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TAGCCCCTCAGGTGAACAGGA	0.567000													15	22					1.3612e-06	1.57912e-06	1	1	0
NR2F6	2063	broad.mit.edu	37	19	17343232	17343232	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:17343232T>C	ENST00000291442.3	-	4	1863	c.1144A>G	c.(1144-1146)Att>Gtt	p.I382V		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	382	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGTGTCTCAATGGGCGTCTTC	0.667000													21	41					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69085777	69085777	+	Silent	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:69085777A>T	ENST00000229179.4	+	5	665	c.333A>T	c.(331-333)gcA>gcT	p.A111A	NUP107_ENST00000539906.1_Silent_p.A82A|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	111					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTAACTGGGCAGCTGCATTTT	0.383000													12	26					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925893	236925893	+	Missense_Mutation	SNP	G	G	T	rs148972050		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:236925893G>T	ENST00000366578.4	+	21	2825	c.2659G>T	c.(2659-2661)Gca>Tca	p.A887S	ACTN2_ENST00000546208.1_Missense_Mutation_p.A381S|ACTN2_ENST00000542672.1_Missense_Mutation_p.A887S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	887					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			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)			GTTCTCTTCCGCACTCTACGG	0.552000													23	24					3.5997e-14	4.89522e-14	1	1	0
EZH2	2146	broad.mit.edu	37	7	148508810	148508810	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:148508810A>T	ENST00000320356.2	-	16	1975	c.1854T>A	c.(1852-1854)caT>caA	p.H618Q	EZH2_ENST00000476773.1_Missense_Mutation_p.H562Q|EZH2_ENST00000478654.1_Missense_Mutation_p.H562Q|EZH2_ENST00000350995.2_Missense_Mutation_p.H574Q|EZH2_ENST00000483967.1_Missense_Mutation_p.H604Q|EZH2_ENST00000460911.1_Missense_Mutation_p.H613Q|EZH2_ENST00000541220.1_Missense_Mutation_p.H562Q	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	613	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCAGCAATAGATGCTAGAGAA	0.408000			Mis		DLBCL								12	29					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009772	58009772	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:58009772C>A	ENST00000286494.4	+	13	1852	c.1392C>A	c.(1390-1392)atC>atA	p.I464I	AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.I503I|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	464	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTCAGATCTTGGAGAGCC	0.577000													39	93					6.2361e-21	9.37187e-21	1	1	0
DSG3	1830	broad.mit.edu	37	18	29055693	29055693	+	Missense_Mutation	SNP	A	A	T	rs141490338	byFrequency	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr18:29055693A>T	ENST00000257189.4	+	16	2553	c.2470A>T	c.(2470-2472)Act>Tct	p.T824S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	824					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGCAGATGCCACTGGTTCTCC	0.463000													31	28					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287748	16287748	+	Silent	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:16287748A>T	ENST00000343518.6	-	1	189	c.138T>A	c.(136-138)tcT>tcA	p.S46S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	46										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTGGTCTCCAGAAGTGCCCA	0.597000													87	332					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866300	215866300	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:215866300T>A	ENST00000272895.7	-	21	3064	c.2845A>T	c.(2845-2847)Agc>Tgc	p.S949C	ABCA12_ENST00000389661.4_Missense_Mutation_p.S631C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	949					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTCGTTGCTTTTGTAGAGC	0.388000													40	65					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25044508	25044508	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:25044508C>T	ENST00000216336.2	-	2	202	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	56	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACAAAGTCTTCTCGCACCAGG	0.607000													15	78					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432200	228432200	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:228432200G>T	ENST00000570156.2	+	12	3759	c.3685G>T	c.(3685-3687)Ggc>Tgc	p.G1229C	OBSCN_ENST00000284548.11_Missense_Mutation_p.G1137C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.G1137C|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	175	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACAGGCGGGCAAAGCAGA	0.577000													40	99					4.92203e-23	7.54711e-23	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67943520	67943520	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:67943520C>T	ENST00000291041.5	+	2	1038	c.868C>T	c.(868-870)Cta>Tta	p.L290L		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	290	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TGCCTACATCCTACTCAGTGG	0.582000													10	39					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109742498	109742498	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:109742498G>A	ENST00000369939.3	+	19	2707	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.D755N	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	842					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGGGACCTGTGATGGCTGCAA	0.577000													16	50					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371791	19371791	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:19371791C>A	ENST00000291481.7	-	3	378	c.315G>T	c.(313-315)caG>caT	p.Q105H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	105	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			ATGCCCGGTGCTGGGGGCCTA	0.687000													36	47					4.00102e-26	6.28053e-26	1	1	0
CCDC150	284992	broad.mit.edu	37	2	197511178	197511178	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:197511178G>T	ENST00000389175.4	+	2	261	c.126G>T	c.(124-126)caG>caT	p.Q42H	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	42										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGAGGAACAGACCAGTTCAC	0.413000													25	53					5.35356e-11	6.94126e-11	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53112194	53112194	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:53112194G>C	ENST00000375442.4	+	1	646	c.514G>C	c.(514-516)Gtg>Ctg	p.V172L		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	172					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GATCATCATAGTggaggatga	0.607000													10	18					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388000													24	106					3.28513e-13	4.36641e-13	1	1	0
SCG3	29106	broad.mit.edu	37	15	52011672	52011672	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:52011672C>A	ENST00000220478.3	+	12	1759	c.1356C>A	c.(1354-1356)atC>atA	p.I452I	SCG3_ENST00000542355.2_Silent_p.I220I	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	452					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGAAAGGCATCCTTGACAAGG	0.378000													15	9					1.5739e-10	2.02085e-10	1	1	0
GATA1	2623	broad.mit.edu	37	X	48650388	48650388	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:48650388G>A	ENST00000376670.3	+	3	469	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	GATA1_ENST00000376665.3_Missense_Mutation_p.A120T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	120					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCCTCCCCAGGCCGTGGAAGA	0.637000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								24	44					0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110032875	110032875	+	Missense_Mutation	SNP	G	G	T	rs104895319		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:110032875G>T	ENST00000228510.3	+	10	1004	c.928G>T	c.(928-930)Gtg>Ttg	p.V310L	MVK_ENST00000541384.1_Missense_Mutation_p.V116L|MVK_ENST00000392727.3_Missense_Mutation_p.V258L|MVK_ENST00000539575.1_Missense_Mutation_p.V258L|MVK_ENST00000539696.1_Missense_Mutation_p.V29L	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	310			V -> M (in MEVA and HIDS).		cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TGCCCTCGGCGTGGGCCACGC	0.622000													29	60					1.75199e-13	2.34633e-13	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10444773	10444773	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:10444773T>C	ENST00000326756.3	-	3	3618	c.3180A>G	c.(3178-3180)atA>atG	p.I1060M		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1057fs>12(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGTTGCTTCTATCAAATGCC	0.408000													10	68					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504145	56504145	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:56504145A>T	ENST00000370754.5	-	21	2776	c.2777T>A	c.(2776-2778)cTt>cAt	p.L926H	DST_ENST00000361203.3_Missense_Mutation_p.L748H|DST_ENST00000244364.6_Missense_Mutation_p.L422H|DST_ENST00000370788.2_Missense_Mutation_p.L748H|DST_ENST00000518935.1_Missense_Mutation_p.L422H|DST_ENST00000370765.6_Missense_Mutation_p.L422H|DST_ENST00000370769.4_Missense_Mutation_p.L748H|DST_ENST00000421834.2_Missense_Mutation_p.L748H|DST_ENST00000446842.2_Missense_Mutation_p.L422H|DST_ENST00000312431.6_Missense_Mutation_p.L748H			Q03001	DYST_HUMAN	dystonin	748	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTGATCAAGTTCTCTCAT	0.338000													7	12					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13977669	13977669	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:13977669G>C	ENST00000261643.3	+	2	150	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	COX10_ENST00000429152.2_Missense_Mutation_p.E25Q|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	25					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CTGGTATCTTGAAAGAAGAAC	0.403000													27	112					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784348	15784348	+	Silent	SNP	G	G	T	rs145606740	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:15784348G>T	ENST00000550308.1	+	2	389	c.9G>T	c.(7-9)ctG>ctT	p.L3L	CYP4F12_ENST00000324632.9_Silent_p.L3L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGATGTCGCTGCTGAGCCTGC	0.657000													27	55					2.12542e-12	2.79688e-12	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247751947	247751947	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:247751947G>T	ENST00000320065.1	+	1	286	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAACTATCGCCTATGGTGG	0.527000													41	138					7.04047e-22	1.06412e-21	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49444861	49444861	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:49444861C>T	ENST00000301067.7	-	10	2604	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTGGCTCCTCAGGGGGCTTT	0.637000													30	58					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299068	125299068	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:125299068C>A	ENST00000538699.1	-	2	920	c.840G>T	c.(838-840)gtG>gtT	p.V280V	DCAF12L2_ENST00000360028.2_Silent_p.V280V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	280										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGTCCAAGGACACCGCTCCCA	0.637000													45	65					3.43241e-23	5.27834e-23	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136113	40136113	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:40136113C>A	ENST00000278198.2	-	2	3693	c.1730G>T	c.(1729-1731)gGa>gTa	p.G577V	LRRC4C_ENST00000527150.1_Missense_Mutation_p.G577V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G577V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G577V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	577					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGTGTGTCTCCCGTAATCTC	0.458000													44	80					4.07013e-28	6.42716e-28	1	1	0
TM6SF1	53346	broad.mit.edu	37	15	83805260	83805260	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:83805260C>T	ENST00000322019.9	+	10	1223	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F	TM6SF1_ENST00000379386.4_Missense_Mutation_p.L320F|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.L286F			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	317						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGTGCATCTCTTCATGCTAG	0.378000													17	43					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17517222	17517222	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:17517222G>A	ENST00000005226.7	-	26	2548	c.2549C>T	c.(2548-2550)gCt>gTt	p.A850V	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGGAAGAGAAGCTCTATATAT	0.572000													50	62					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667615	100667615	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:100667615G>A	ENST00000316594.5	+	2	717	c.639G>A	c.(637-639)ccG>ccA	p.P213P		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	213					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						ATGATAGGCCGGGGGCTGGCA	0.537000													45	79					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1707					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCAGCGAGGCGAGCGCTCCC	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	27					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382417	41382417	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:41382417T>A	ENST00000377801.3	-	2	397	c.323A>T	c.(322-324)aAt>aTt	p.N108I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.N108I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	108	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.N108S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATAGAGTTCATTGTCGGGGTC	0.438000													57	61					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24949626	24949626	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:24949626C>A	ENST00000217456.2	-	8	1233	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		ACCCAGTACCCCCCAGAGCTG	0.517000													23	58					1.85244e-09	2.30033e-09	1	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403486	136403486	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:136403486G>T	ENST00000393061.3	+	4	1008	c.576G>T	c.(574-576)ccG>ccT	p.P192P	ADAMTSL2_ENST00000393060.1_Silent_p.P83P|ADAMTSL2_ENST00000354484.4_Silent_p.P83P			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	83					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGTCCGTCCCGGGCCCCGGGA	0.682000													34	57					6.97489e-18	1.01926e-17	1	1	0
ZNF257	113835	broad.mit.edu	37	19	22271685	22271685	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:22271685G>T	ENST00000594947.1	+	4	1277	c.1133G>T	c.(1132-1134)gGa>gTa	p.G378V		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGAGTGTGGAAAAGCCTTT	0.373000													10	19					2.17888e-05	2.45762e-05	1	1	0
XRCC5	7520	broad.mit.edu	37	2	217057378	217057378	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:217057378G>T	ENST00000392133.3	+	20	2422	c.1961G>T	c.(1960-1962)cGc>cTc	p.R654L	XRCC5_ENST00000392132.2_Missense_Mutation_p.R654L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	654					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GAAGAGCAGCGCTTTAACAAC	0.408000								Non-homologous end-joining					10	22					2.17888e-05	2.45762e-05	1	1	0
DCTN1	1639	broad.mit.edu	37	2	74594537	74594537	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:74594537C>T	ENST00000361874.3	-	19	2512	c.2195G>A	c.(2194-2196)aGc>aAc	p.S732N	DCTN1_ENST00000409868.1_Missense_Mutation_p.S715N|DCTN1_ENST00000394003.3_Missense_Mutation_p.S725N|DCTN1_ENST00000409438.1_Missense_Mutation_p.S598N|DCTN1_ENST00000409240.1_Missense_Mutation_p.S695N|DCTN1_ENST00000409567.3_Missense_Mutation_p.S712N|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.S598N	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	732					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AAGGTGGATGCTGTACAGATG	0.532000													12	22					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140827	58140827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:58140827C>A	ENST00000547992.1	+	3	351	c.219C>A	c.(217-219)tgC>tgA	p.C73*	TSPAN31_ENST00000547472.1_Nonsense_Mutation_p.C74*|TSPAN31_ENST00000257910.3_Nonsense_Mutation_p.C157*|TSPAN31_ENST00000553221.1_3'UTR			Q12999	TSN31_HUMAN	tetraspanin 31	157					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCCCACATGCCAGATGTGTG	0.438000													39	71					1.04594e-18	1.54554e-18	1	1	0
INS	3630	broad.mit.edu	37	11	2181118	2181118	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:2181118G>T	ENST00000397262.1	-	2	529	c.297C>A	c.(295-297)atC>atA	p.I99I	INS_ENST00000381330.4_Silent_p.I99I|INS_ENST00000512523.1_Silent_p.I87I|INS-IGF2_ENST00000397270.1_Intron|INS_ENST00000250971.3_Silent_p.I99I	NM_001185098.1	NP_001172027.1			insulin											haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		AGAGGGAGCAGATGCTGGTAC	0.642000													7	8					1.26484e-09	1.57436e-09	1	1	0
CALCR	799	broad.mit.edu	37	7	93072940	93072940	+	Missense_Mutation	SNP	G	G	A	rs144902080		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:93072940G>A	ENST00000359558.2	-	11	1179	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	CALCR_ENST00000426151.1_Missense_Mutation_p.R260W|CALCR_ENST00000360249.4_Missense_Mutation_p.R276W|CALCR_ENST00000421592.1_Missense_Mutation_p.R276W|CALCR_ENST00000394441.1_Missense_Mutation_p.R260W	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	276					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R260W(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TAATACCACCGCAAGCGTTGC	0.448000													23	56					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357263	79357263	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:79357263G>A	ENST00000370742.3	-	14	2019	c.1956C>T	c.(1954-1956)agC>agT	p.S652S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	652					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGAAAGCATTGCTGACTGTGA	0.428000													22	44					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117752665	117752665	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:117752665G>T	ENST00000276204.6	+	31	3519	c.3445G>T	c.(3445-3447)Gca>Tca	p.A1149S	DOCK11_ENST00000276202.7_Missense_Mutation_p.A1149S			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1149					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATAAAACATGCATTTGACAC	0.358000													12	37					5.50884e-06	6.30774e-06	1	1	0
IMPG2	50939	broad.mit.edu	37	3	101010330	101010330	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:101010330C>A	ENST00000193391.7	-	4	713	c.526G>T	c.(526-528)Gta>Tta	p.V176L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	176					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCTGCTTACAGTTTCCTTT	0.338000													5	12					1.23904e-05	1.40655e-05	1	1	0
IDH3G	3421	broad.mit.edu	37	X	153055722	153055722	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:153055722C>A	ENST00000370092.3	-	4	346	c.161G>T	c.(160-162)cGg>cTg	p.R54L	IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.R54L|IDH3G_ENST00000217901.5_Missense_Mutation_p.R54L|IDH3G_ENST00000497043.1_5'UTR	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	54					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CACCGTGTGCCGCCCGCCATA	0.652000													22	59					9.95505e-16	1.39688e-15	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79324926	79324926	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:79324926G>A	ENST00000428286.1	-	8	2387	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P755L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	755					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTCCTTGGGGAGATGTATT	0.493000													12	15					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044383	90044383	+	RNA	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:90044383A>G	ENST00000462693.1	+	0	334																											GAAAATCAGCAGGGTGGAAGC	0.502000													67	141					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797891	2797891	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:2797891G>T	ENST00000399655.1	+	46	6328	c.6063G>T	c.(6061-6063)caG>caT	p.Q2021H	CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q2027H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q2092H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q2021H|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q2041H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q2021H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q2021H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q2029H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q2062H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q2069H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q2029H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q2021H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q2056H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q2040H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q2040H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q2040H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q2021H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q2046H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q2092H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q2056H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q2038H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q2049H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2104					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCCCAGCCAGGCTGGGGCCC	0.716000													5	14					0.000602214	0.000634604	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698556	79698556	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:79698556T>A	ENST00000538312.1	+	5	852	c.518T>A	c.(517-519)gTa>gAa	p.V173E	FAM46D_ENST00000308293.5_Missense_Mutation_p.V173E	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	173										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GAATTTAGTGTAGATTCCTTT	0.383000													36	54					0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67943600	67943600	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:67943600C>T	ENST00000291041.5	+	2	1118	c.948C>T	c.(946-948)taC>taT	p.Y316Y		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	316	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AGTACAGTTACTCTGGGGAGG	0.587000													7	18					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956474	143956474	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:143956474C>A	ENST00000292427.4	-	8	1329	c.1297G>T	c.(1297-1299)Ggc>Tgc	p.G433C	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	433					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTGCCGGAGCCCCTGATGTCT	0.637000									Familial Hyperaldosteronism type I				35	101					2.20474e-14	3.00594e-14	1	1	0
HOXD9	3235	broad.mit.edu	37	2	176987785	176987785	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:176987785C>A	ENST00000249499.6	+	1	698	c.289C>A	c.(289-291)Cac>Aac	p.H97N	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	97						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CGGCCTCTACCACCCGTACGT	0.746000													6	11					2.7689e-08	3.36723e-08	1	1	0
ITCH	83737	broad.mit.edu	37	20	33077155	33077155	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:33077155G>A	ENST00000374864.4	+	21	2391	c.2178G>A	c.(2176-2178)caG>caA	p.Q726Q	ITCH_ENST00000535650.1_Silent_p.Q616Q|ITCH_ENST00000262650.6_Silent_p.Q767Q	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	767	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTCTTCCCCAGCAATATTTGC	0.383000													12	24					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66286275	66286275	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:66286275G>T	ENST00000273854.3	-	6	2011	c.1411C>A	c.(1411-1413)Cca>Aca	p.P471T	EPHA5_ENST00000432638.2_Missense_Mutation_p.P307T|EPHA5_ENST00000354839.4_Missense_Mutation_p.P471T|EPHA5_ENST00000511294.1_Missense_Mutation_p.P471T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	471	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTGGTGACTGGAGATGGAGCT	0.358000										TSP Lung(17;0.13)			4	15					0.150653	0.151513	1	1	0
FTSJ2	29960	broad.mit.edu	37	7	2275087	2275087	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:2275087C>G	ENST00000242257.8	-	3	439	c.411G>C	c.(409-411)caG>caC	p.Q137H	FTSJ2_ENST00000407040.1_Missense_Mutation_p.Q43H|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	137					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CGAGGATTCTCTGTGAGGTTC	0.557000													30	72					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267831	40267831	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:40267831C>T	ENST00000225916.5	-	12	1838	c.1785G>A	c.(1783-1785)atG>atA	p.M595I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	595	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCAGGTGGTTCATCAGGTGGG	0.562000													30	73					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102266260	102266260	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:102266260C>A	ENST00000369138.1	+	9	1709	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T	GRIK2_ENST00000369134.4_Missense_Mutation_p.P358T|GRIK2_ENST00000318991.6_Missense_Mutation_p.P407T|GRIK2_ENST00000421544.1_Missense_Mutation_p.P407T|GRIK2_ENST00000413795.1_Missense_Mutation_p.P407T|GRIK2_ENST00000369137.3_Missense_Mutation_p.P407T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	407					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AACGTGGGATCCAGCCAGTGG	0.403000													6	30					3.59834e-05	4.01586e-05	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26812803	26812803	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:26812803A>T	ENST00000541819.2	-	8	1030	c.928T>A	c.(928-930)Tct>Act	p.S310T	GABRB3_ENST00000400188.3_Missense_Mutation_p.S183T|GABRB3_ENST00000299267.4_Missense_Mutation_p.S254T|GABRB3_ENST00000311550.5_Missense_Mutation_p.S254T|GABRB3_ENST00000545868.1_Missense_Mutation_p.S169T			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	254					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCAGTATAGAGGGCATATAA	0.423000													16	24					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614124	184614124	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:184614124G>T	ENST00000334690.6	+	20	2263	c.2061G>T	c.(2059-2061)gtG>gtT	p.V687V	TRAPPC11_ENST00000357207.4_Silent_p.V687V|TRAPPC11_ENST00000512476.1_Silent_p.V293V	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	687																	TTACTTCAGTGGATCTTGCTC	0.448000													10	55					1.61879e-10	2.07346e-10	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629732	9629732	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:9629732G>T	ENST00000382492.2	-	1	731	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	138					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAAATCATAGATACATATAG	0.433000													17	36					1.67942e-08	2.05651e-08	1	1	0
NAA16	79612	broad.mit.edu	37	13	41902922	41902922	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr13:41902922G>T	ENST00000379406.3	+	7	1078	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	NAA16_ENST00000403412.3_Missense_Mutation_p.D252Y|NAA16_ENST00000379367.3_Missense_Mutation_p.D252Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	252					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAACTTGATTGATCGAAATGC	0.299000													10	24					1.76689e-08	2.15366e-08	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753010	25753010	+	RNA	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:25753010G>A	ENST00000586223.1	+	0	1455					NR_033892.1																						TGCACACAGGGTTCCTCATTC	0.592000													3	5					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12383786	12383786	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:12383786G>A	ENST00000358136.3	+	35	8069	c.7939G>A	c.(7939-7941)Gag>Aag	p.E2647K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2647K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2647	UBA.				protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAGGCTGCAGGAGCTGGGATT	0.348000													35	83					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948217	38948217	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:38948217G>T	ENST00000355481.4	+	17	2003	c.1872G>T	c.(1870-1872)ttG>ttT	p.L624F	RYR1_ENST00000360985.3_Missense_Mutation_p.L624F|RYR1_ENST00000359596.3_Missense_Mutation_p.L624F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	624	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGAACTTGCTGCCTGGCC	0.522000													51	129					1.81118e-26	2.85153e-26	1	1	0
GPR112	139378	broad.mit.edu	37	X	135430383	135430383	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:135430383G>A	ENST00000394143.1	+	6	4809	c.4518G>A	c.(4516-4518)acG>acA	p.T1506T	GPR112_ENST00000412101.1_Silent_p.T1301T|GPR112_ENST00000394141.1_Silent_p.T1301T|GPR112_ENST00000287534.4_Silent_p.T1443T|GPR112_ENST00000370652.1_Silent_p.T1506T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1506					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTATGGCAACGTCCACTCCTA	0.408000													30	88					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17739608	17739608	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:17739608G>T	ENST00000380060.3	+	4	1238	c.900G>T	c.(898-900)agG>agT	p.R300S	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.R144S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	300						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAGGGCAGAGGCCGAAAAACC	0.473000													26	51					1.77063e-15	2.45844e-15	1	1	0
BRDT	676	broad.mit.edu	37	1	92446921	92446921	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:92446921G>T	ENST00000370389.2	+	11	2552	c.1628G>T	c.(1627-1629)aGa>aTa	p.R543I	BRDT_ENST00000362005.3_Missense_Mutation_p.R616I|BRDT_ENST00000402388.1_Missense_Mutation_p.R616I|BRDT_ENST00000399546.2_Missense_Mutation_p.R616I|BRDT_ENST00000394530.3_Missense_Mutation_p.R570I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTAAATTCTAGAAAACGTCAA	0.353000													5	12					3.59834e-05	4.01586e-05	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30903492	30903492	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr18:30903492C>A	ENST00000383096.3	-	11	1167	c.985G>T	c.(985-987)Gat>Tat	p.D329Y	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.D329Y|CCDC178_ENST00000579947.1_Missense_Mutation_p.D329Y|CCDC178_ENST00000583930.1_Missense_Mutation_p.D329Y|CCDC178_ENST00000300227.8_Missense_Mutation_p.D329Y|CCDC178_ENST00000402325.1_Missense_Mutation_p.D329Y|CCDC178_ENST00000403303.1_Missense_Mutation_p.D329Y					coiled-coil domain containing 178																		TGGTAAATATCCTTATCAATC	0.318000													5	2					0.00116845	0.00122398	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31931747	31931747	+	Missense_Mutation	SNP	G	G	T	rs144147284	byFrequency	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:31931747G>T	ENST00000375394.2	+	16	1818	c.1705G>T	c.(1705-1707)Gtg>Ttg	p.V569L	SKIV2L_ENST00000544581.1_Missense_Mutation_p.V376L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	569						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCAGTTGCCCGTGGTGGTGTT	0.637000													86	101					1.17954e-47	1.94992e-47	1	1	0
SLC9A6	10479	broad.mit.edu	37	X	135067800	135067800	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:135067800G>T	ENST00000370695.4	+	1	174	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	SLC9A6_ENST00000370701.1_5'UTR|SLC9A6_ENST00000370698.3_Missense_Mutation_p.G47C	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	47					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGACGGCGGCGGCGGAGAGGC	0.667000													28	72					1.1423e-28	1.81465e-28	1	1	0
CHPT1	56994	broad.mit.edu	37	12	102107962	102107962	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:102107962C>G	ENST00000549872.1	+	2	558	c.368C>G	c.(367-369)tCt>tGt	p.S123C	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Missense_Mutation_p.S123C			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	123					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGAACAAACTCTTGTTCCCCT	0.378000													51	69					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031968	33031968	+	Splice_Site	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:33031968T>A	ENST00000340811.4	-	2	332		c.e2-2		PKP2_ENST00000070846.6_Splice_Site	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAGATTTCCTGCAATCAAGC	0.333000													11	36					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7826934	7826934	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:7826934G>C	ENST00000338316.4	+	25	3315	c.3226G>C	c.(3226-3228)Gta>Cta	p.V1076L	ADCY2_ENST00000537121.1_Missense_Mutation_p.V896L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1076					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			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						GACGTACTTTGTAAACACAGA	0.493000													5	115					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201332087	201332087	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:201332087G>C	ENST00000409988.3	+	10	1445	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	SPATS2L_ENST00000409140.3_Missense_Mutation_p.E308Q|SPATS2L_ENST00000358677.4_Missense_Mutation_p.E308Q|SPATS2L_ENST00000409151.1_Missense_Mutation_p.E316Q|SPATS2L_ENST00000360760.5_Missense_Mutation_p.E239Q|SPATS2L_ENST00000451764.2_Missense_Mutation_p.E308Q|SPATS2L_ENST00000409385.1_Missense_Mutation_p.E248Q|SPATS2L_ENST00000409718.1_Missense_Mutation_p.E308Q|SPATS2L_ENST00000409755.3_Missense_Mutation_p.E338Q	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	308						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCAGATGGCAGAGATGCAGCT	0.458000													14	44					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321388	52321388	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:52321388G>A	ENST00000356297.4	-	17	2896	c.2796C>T	c.(2794-2796)ccC>ccT	p.P932P	PXDNL_ENST00000543296.1_Silent_p.P932P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	932					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGGCAATAAGGGCTTTCCGG	0.642000													15	23					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475140	66475140	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:66475140C>A	ENST00000533211.1	-	13	1831	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	SPTBN2_ENST00000529997.1_Missense_Mutation_p.K500N|SPTBN2_ENST00000309996.2_Missense_Mutation_p.K500N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	500					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGCGATGCGCTTGATGTCGT	0.687000													18	46					1.01871e-10	1.31119e-10	1	1	0
IL18R1	8809	broad.mit.edu	37	2	102992438	102992438	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:102992438G>T	ENST00000409599.1	+	6	896	c.540G>T	c.(538-540)caG>caT	p.Q180H	IL18R1_ENST00000233957.1_Missense_Mutation_p.Q180H			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	180	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGAAGATCAGGGGTATTACT	0.328000													6	20					0.0215528	0.0219258	1	1	0
QDPR	5860	broad.mit.edu	37	4	17493927	17493927	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:17493927T>C	ENST00000281243.5	-	5	652	c.473A>G	c.(472-474)cAc>cGc	p.H158R	QDPR_ENST00000513615.1_Intron|QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.H127R	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	158			H -> Y (in HPABH4C; severe).		dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCAGAGCTGGTGAACAGCACC	0.642000													8	26					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86924580	86924580	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:86924580T>C	ENST00000376238.4	-	3	255	c.206A>G	c.(205-207)cAc>cGc	p.H69R	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	69					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCCTCCATGTGTTCTCTGTT	0.413000													38	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436858	179436858	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:179436858G>T	ENST00000589042.1	-	326	74225	c.74001C>A	c.(73999-74001)gcC>gcA	p.A24667A	TTN_ENST00000342992.6_Silent_p.A22099A|TTN_ENST00000342175.6_Silent_p.A15794A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.A15727A|TTN_ENST00000460472.2_Silent_p.A15602A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.A23026A|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23026	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGACTGTGGCACACGTGG	0.483000													15	33					1.05317e-09	1.32021e-09	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128932356	128932356	+	Splice_Site	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:128932356A>T	ENST00000274487.4	+	8	1604	c.1460_splice	c.e8+1	p.N487_splice	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	487	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATGGGTCACAAGTAAGTAAA	0.318000													27	31					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53527845	53527845	+	Splice_Site	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:53527845T>A	ENST00000357758.3	-	8	2024	c.1842_splice	c.e8+1	p.K614_splice	DDHD1_ENST00000323669.5_Splice_Site_p.K614_splice|DDHD1_ENST00000395606.1_Splice_Site_p.K621_splice	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	614	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTTCCTTACCTTAAATTTTAA	0.343000													4	23					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78429954	78429954	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:78429954T>A	ENST00000370767.1	-	11	1012	c.925A>T	c.(925-927)Att>Ttt	p.I309F	FUBP1_ENST00000436586.2_Missense_Mutation_p.I330F|FUBP1_ENST00000370768.2_Missense_Mutation_p.I309F			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	309	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTAAACTGAATGCGAACACCA	0.323000			"""F, N"""		oligodendroglioma								10	29					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463767	104463767	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:104463767C>A	ENST00000413579.1	-	5	1220	c.1109G>T	c.(1108-1110)aGa>aTa	p.R370I	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	370						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TACTGGAGGTCTTTGCTGATG	0.542000													59	114					5.66675e-16	8.03676e-16	1	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198480	170198480	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:170198480T>A	ENST00000231706.4	-	7	1906	c.1591A>T	c.(1591-1593)Atc>Ttc	p.I531F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	531						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTTAACTTGATGAGATAAATA	0.498000													42	100					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308752	117308752	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:117308752C>A	ENST00000321322.6	-	25	4472	c.4471G>T	c.(4471-4473)Gtg>Ttg	p.V1491L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V1221L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1431	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGATGAACACATCCTTCCAC	0.607000													8	17					0.000442599	0.000472046	1	1	0
SCAF8	22828	broad.mit.edu	37	6	155129905	155129905	+	Nonsense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:155129905C>G	ENST00000367178.3	+	11	1775	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S400*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S466*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	400	Arg-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGCTCAAGATCAAGAACACAT	0.388000													6	20					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027912	92027912	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:92027912C>T	ENST00000265742.3	+	20	3295	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	973							protein binding|zinc ion binding	p.I973I(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGGCAACATCATGGCTTGGT	0.488000													39	79					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644201	64644201	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:64644201C>T	ENST00000371079.1	+	9	2852	c.2477C>T	c.(2476-2478)cCt>cTt	p.P826L	ROR1_ENST00000545203.1_Missense_Mutation_p.P277L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	826	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAATACCTCCTGGATATGCA	0.557000													36	41					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15838879	15838879	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:15838879T>A	ENST00000305899.3	+	1	46	c.26T>A	c.(25-27)aTg>aAg	p.M9K		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CACACCTCCATGTCTGAATTC	0.557000													68	112					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614125	184614125	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:184614125G>T	ENST00000334690.6	+	20	2264	c.2062G>T	c.(2062-2064)Gat>Tat	p.D688Y	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.D688Y|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.D294Y	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	688																	TACTTCAGTGGATCTTGCTCT	0.453000													12	55					2.32078e-09	2.87516e-09	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	rs144447013		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	425					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453000													29	78					1.75199e-13	2.34633e-13	1	1	0
ZNF180	7733	broad.mit.edu	37	19	44981400	44981400	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:44981400C>T	ENST00000221327.4	-	5	1579	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E	ZNF180_ENST00000592529.1_Missense_Mutation_p.G406E|ZNF180_ENST00000391956.4_Missense_Mutation_p.G408E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGGCTTCTCCCCAGTATGAGT	0.413000													22	61					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597517	247597517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:247597517G>T	ENST00000366497.2	+	6	3220	c.2440G>T	c.(2440-2442)Gga>Tga	p.G814*	NLRP3_ENST00000336119.3_Nonsense_Mutation_p.G814*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.G757*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.G757*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.G814*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.G814*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	871					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGGTGACTTCGGAATCAGACT	0.567000													72	69					4.83814e-26	7.57211e-26	1	1	0
KRT14	3861	broad.mit.edu	37	17	39740572	39740572	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:39740572G>T	ENST00000167586.6	-	3	788	c.702C>A	c.(700-702)gaC>gaA	p.D234E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCATCTCCAGGTCAGCTCTGG	0.522000													65	96					1.20869e-33	1.95535e-33	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104955077	104955077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:104955077C>A	ENST00000507740.1	+	11	2236	c.2000C>A	c.(1999-2001)tCa>tAa	p.S667*	RIMS2_ENST00000436393.2_Nonsense_Mutation_p.S653*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.S875*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.S714*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	937					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GATGTCTCTTCATTGCCACTT	0.413000										HNSCC(12;0.0054)			14	33					0.000219431	0.000236414	1	1	0
NSMCE4A	54780	broad.mit.edu	37	10	123730477	123730477	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:123730477T>C	ENST00000369023.3	-	3	529	c.478A>G	c.(478-480)Atg>Gtg	p.M160V	NSMCE4A_ENST00000538652.1_Start_Codon_SNP_p.M1V|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_Missense_Mutation_p.M160V	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	160										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TATCTTAACATGTCAAAGGAG	0.378000													7	19					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212671	131212671	+	Silent	SNP	G	G	A	rs138801659		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:131212671G>A	ENST00000298542.4	-	12	1549	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	FRMD7_ENST00000464296.1_Silent_p.S443S|FRMD7_ENST00000370879.1_Silent_p.S338S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	458					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CAGAATATATGCTCATGTGAT	0.453000													95	172					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63957846	63957846	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:63957846G>C	ENST00000373789.3	-	12	1747	c.1651C>G	c.(1651-1653)Cac>Gac	p.H551D	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	551					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTCTGTAAGTGATGCATTAGA	0.408000													33	72					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872008	51872008	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:51872008G>C	ENST00000371497.5	+	2	2898	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E668Q|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E668Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	671					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAGCCCCTGGAGCCCACATC	0.612000													18	31					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591450	7591450	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:7591450G>A	ENST00000264079.6	+	3	488	c.363G>A	c.(361-363)acG>acA	p.T121T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	121					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGCCTACACGCGGGAGCAGC	0.652000													41	93					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433532	55433532	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:55433532A>G	ENST00000314259.3	+	1	919	c.890A>G	c.(889-891)aAg>aGg	p.K297R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGTGCCATGAAGAAACTCTGG	0.428000													19	25					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129150093	129150093	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:129150093G>C	ENST00000540052.1	+	3	3389	c.3345G>C	c.(3343-3345)ccG>ccC	p.P1115P	BCORL1_ENST00000218147.7_Silent_p.P1115P|BCORL1_ENST00000303743.5_Silent_p.P1115P|BCORL1_ENST00000359304.2_Silent_p.P1115P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1115					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AATCTCTGCCGCCCAAGAAGA	0.572000													25	53					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276360	150276360	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:150276360C>A	ENST00000446148.2	-	7	916	c.489G>T	c.(487-489)caG>caT	p.Q163H	ZNF300_ENST00000394226.2_Missense_Mutation_p.Q147H|ZNF300_ENST00000274599.5_Missense_Mutation_p.Q147H|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.Q111H	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAATGTGACCTGCCTGAAGA	0.398000													29	101					7.68411e-24	1.18857e-23	1	1	0
TENM3	55714	broad.mit.edu	37	4	183696179	183696179	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:183696179C>T	ENST00000511685.1	+	24	5300	c.5177C>T	c.(5176-5178)aCc>aTc	p.T1726I	TENM3_ENST00000406950.2_Missense_Mutation_p.T1726I					teneurin transmembrane protein 3																		CTGGCTGGCACCGCTAATCCG	0.512000													19	30					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339357	19339357	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:19339357G>A	ENST00000252575.5	+	8	2971	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	NCAN_ENST00000538881.1_Silent_p.G427G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	976					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCCTGGCAGGGAGCCCGGGTG	0.637000													48	82					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43429927	43429927	+	RNA	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:43429927G>T	ENST00000406070.2	-	0	1337				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CCACTTACCAGAGACTCTGAC	0.473000													75	170					1.34917e-44	2.2234e-44	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147497	26147497	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:26147497A>T	ENST00000331351.5	+	2	1691	c.1299A>T	c.(1297-1299)aaA>aaT	p.K433N	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	433					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AATTCTACAAACCCTTCAACT	0.483000													9	17					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131086	55131086	+	Splice_Site	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:55131086C>A	ENST00000257290.5	+	5	960	c.628_splice	c.e5-1	p.A210_splice	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	210	Ig-like C2-type 3.				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.A210V(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)	TTTTTTATAGCAACATCAGAG	0.358000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	53					1.3612e-06	1.57912e-06	1	1	0
IL12RB2	3595	broad.mit.edu	37	1	67861257	67861257	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:67861257C>T	ENST00000262345.1	+	16	2714	c.2074C>T	c.(2074-2076)Ctc>Ttc	p.L692F	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L606F|IL12RB2_ENST00000371000.1_Silent_p.G658G|IL12RB2_ENST00000541374.1_Silent_p.G658G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	692					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTTGGACAGGCTCCTGATAGA	0.537000													9	86					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771791	72771791	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:72771791G>T	ENST00000261180.4	+	3	1166	c.1070G>T	c.(1069-1071)aGa>aTa	p.R357I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	357					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATATGCAAGACCTGATGCT	0.328000													12	21					0.010729	0.0109993	1	1	0
SMG1	23049	broad.mit.edu	37	16	18851073	18851073	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:18851073T>C	ENST00000446231.2	-	42	7304	c.6892A>G	c.(6892-6894)Aaa>Gaa	p.K2298E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2298E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2298	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGAGCTCTTTGGCAAGGAGA	0.473000													31	80					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464953	120464953	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:120464953C>A	ENST00000256646.2	-	28	5338	c.5119G>T	c.(5119-5121)Ggc>Tgc	p.G1707C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1707					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGAGAGAGCCATGCTTACGC	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				16	54					1.37285e-15	1.92127e-15	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	30					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66406959	66406959	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:66406959C>T	ENST00000341567.4	+	2	362	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_017994.4	NP_060464.1			transmembrane protein 248																		GCTTTCCTGACCCTGGGCTAC	0.532000													37	68					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234835196	234835196	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:234835196C>A	ENST00000324695.4	+	2	54	c.14C>A	c.(13-15)gCa>gAa	p.A5E	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	5						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTTTCGGGCAGCCAGGCTC	0.517000													16	41					9.16793e-09	1.12787e-08	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861347	52861347	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:52861347C>A	ENST00000343457.3	-	4	1847	c.1841G>T	c.(1840-1842)tGg>tTg	p.W614L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	614						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGCGAGTCCCAAAGTGACTG	0.488000													22	52					2.27731e-05	2.56318e-05	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103377745	103377745	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:103377745C>A	ENST00000358392.2	-	54	4409	c.4092G>T	c.(4090-4092)gaG>gaT	p.E1364D	COL11A1_ENST00000353414.4_Missense_Mutation_p.E1313D|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1352D|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1236D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1352	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTGGGCCAGCCTCACCAGATG	0.358000													6	15					0.00198382	0.0020699	1	1	0
PSG2	5670	broad.mit.edu	37	19	43586679	43586679	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:43586679A>G	ENST00000406487.1	-	1	141	c.43T>C	c.(43-45)Tgg>Cgg	p.W15R	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	15					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGCCCCTTCCATTTGATGTGC	0.577000													56	98					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364682	142364682	+	RNA	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:142364682C>A	ENST00000390397.2	+	0	353																											AACCAGACAGCTCTTTACTTC	0.493000													30	69					1.39806e-14	1.91599e-14	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19603178	19603178	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:19603178G>T	ENST00000438132.3	+	8	1021	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000417362.2_Missense_Mutation_p.D236Y|C16orf62_ENST00000251143.5_Missense_Mutation_p.D236Y|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Missense_Mutation_p.D325Y|C16orf62_ENST00000448695.1_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	236						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCTTATCACCGACATACTTGA	0.343000													8	34					0.00307968	0.00320069	1	1	0
AGTR1	185	broad.mit.edu	37	3	148459494	148459494	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:148459494G>T	ENST00000542281.1	+	4	1118	c.672G>T	c.(670-672)aaG>aaT	p.K224N	AGTR1_ENST00000418473.2_Missense_Mutation_p.K224N|AGTR1_ENST00000497524.1_Missense_Mutation_p.K224N|AGTR1_ENST00000461609.1_Missense_Mutation_p.K224N|AGTR1_ENST00000475347.1_Missense_Mutation_p.K224N|AGTR1_ENST00000349243.3_Missense_Mutation_p.K224N|AGTR1_ENST00000474935.1_Missense_Mutation_p.K224N|AGTR1_ENST00000402260.1_Missense_Mutation_p.K224N|AGTR1_ENST00000404754.2_Missense_Mutation_p.K224N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	224					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCCTAAAGAAGGCTTATGAAA	0.363000													15	31					2.23348e-06	2.5741e-06	1	1	0
CASP5	838	broad.mit.edu	37	11	104869612	104869612	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:104869612G>T	ENST00000393141.2	-	7	1166	c.1135_splice	c.e7+1	p.H379_splice	CASP5_ENST00000418434.1_Splice_Site_p.H224_splice|CASP5_ENST00000531367.1_Splice_Site_p.H224_splice|CASP5_ENST00000526056.1_Splice_Site_p.H379_splice|CASP5_ENST00000260315.3_Splice_Site_p.H366_splice|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Splice_Site_p.H308_splice	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	366					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.H350Y(1)|p.H379Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGACACATACGTGGTGTTGAA	0.443000													33	55					1.57351e-24	2.4482e-24	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67943519	67943519	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:67943519C>T	ENST00000291041.5	+	2	1037	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	289	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TTGCCTACATCCTACTCAGTG	0.582000													9	38					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28339624	28339624	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:28339624G>C	ENST00000373871.3	-	9	1007	c.767C>G	c.(766-768)tCt>tGt	p.S256C	EYA3_ENST00000545175.1_Missense_Mutation_p.S203C|EYA3_ENST00000540618.1_Missense_Mutation_p.S210C|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.S130C|EYA3_ENST00000373863.3_Missense_Mutation_p.S210C|EYA3_ENST00000373864.1_Missense_Mutation_p.S100C			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	256					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCTTACCAGAGGAAAGTCT	0.468000													38	91					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975697	152975697	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:152975697C>A	ENST00000331860.3	+	3	351	c.201C>A	c.(199-201)acC>acA	p.T67T	SPRR3_ENST00000295367.4_Silent_p.T67T|SPRR3_ENST00000542696.1_Silent_p.T67T	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	67	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).	keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGCTGTACCAAGGTCCCTG	0.572000													8	82					0.00307968	0.00320069	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169186760	169186760	+	Missense_Mutation	SNP	T	T	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:169186760T>G	ENST00000256935.8	+	24	2508	c.2428T>G	c.(2428-2430)Ttt>Gtt	p.F810V	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F302V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	810					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)			AGAAATGGTCTTTGATGCGAA	0.463000													29	67					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171318470	171318470	+	Splice_Site	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:171318470C>A	ENST00000296933.6	-	6	1121		c.e6+1		FBXW11_ENST00000265094.5_Splice_Site|FBXW11_ENST00000522891.1_Splice_Site|FBXW11_ENST00000425623.2_Splice_Site|FBXW11_ENST00000393802.2_Splice_Site	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11						cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTCATTCACCTTAATAGAA	0.338000													14	29					4.3838e-07	5.17641e-07	1	1	0
NRG1	3084	broad.mit.edu	37	8	32617784	32617784	+	Silent	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:32617784A>T	ENST00000338921.4	+	12	1669	c.1152A>T	c.(1150-1152)gtA>gtT	p.V384V	NRG1_ENST00000356819.4_Silent_p.V381V|NRG1_ENST00000539990.1_Silent_p.V219V|NRG1_ENST00000287840.5_Silent_p.V376V|NRG1_ENST00000287845.5_Silent_p.V347V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Silent_p.V373V|NRG1_ENST00000519301.1_Silent_p.V326V|NRG1_ENST00000523079.1_Silent_p.V373V|NRG1_ENST00000405005.2_Silent_p.V376V|NRG1_ENST00000521670.1_Silent_p.V376V			Q02297	NRG1_HUMAN	neuregulin 1	376					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGTCATCCGTAGAAAACAGTA	0.522000													61	71					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84494344	84494344	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:84494344C>G	ENST00000416219.2	+	25	2594	c.2505C>G	c.(2503-2505)atC>atG	p.I835M	ATP2C2_ENST00000262429.4_Missense_Mutation_p.I806M|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	806					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GAGCCCTCATCCTGAAGATCC	0.602000													5	115					0	0	1	0	0
PRIM1	5557	broad.mit.edu	37	12	57135255	57135255	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:57135255G>C	ENST00000338193.6	-	9	982	c.946C>G	c.(946-948)Cta>Gta	p.L316V		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	316					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						CTCTTCAGTAGATGATTGATT	0.393000													8	23					0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154446	14154446	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:14154446C>T	ENST00000295767.5	-	4	733	c.409G>A	c.(409-411)Gca>Aca	p.A137T	CHCHD4_ENST00000396914.3_Missense_Mutation_p.A124T	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	124					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GTttcttctgcttgttctgct	0.517000													11	4					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197640778	197640778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:197640778C>A	ENST00000265239.6	-	8	1286	c.862G>T	c.(862-864)Gag>Tag	p.E288*	IQCG_ENST00000455191.1_Nonsense_Mutation_p.E288*|IQCG_ENST00000453254.1_Nonsense_Mutation_p.E288*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	288										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AAGAGTTCCTCTGTTCTGTTA	0.473000													51	98					2.01807e-28	3.19628e-28	1	1	0
CD93	22918	broad.mit.edu	37	20	23065923	23065923	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:23065923G>T	ENST00000246006.4	-	1	1054	c.907C>A	c.(907-909)Cga>Aga	p.R303R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	303	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAAGGGTTTCGAGAGGCACAG	0.652000													22	67					1.28384e-07	1.52962e-07	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58979884	58979884	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:58979884A>G	ENST00000361050.3	-	1	540	c.455T>C	c.(454-456)gTa>gCa	p.V152A		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	152	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGTTTCTTACCTGAACTCG	0.443000													49	43					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770137	38770137	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:38770137G>A	ENST00000449082.2	-	15	2535	c.2536C>T	c.(2536-2538)Ctc>Ttc	p.L846F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	846					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTCCACAGAGGATACGGAAG	0.507000													19	19					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052161	141052161	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:141052161T>C	ENST00000239440.4	-	9	1408	c.1343A>G	c.(1342-1344)aAg>aGg	p.K448R	ARAP3_ENST00000513878.1_Missense_Mutation_p.K110R|ARAP3_ENST00000508305.1_Missense_Mutation_p.K370R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	448	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTTCGACTCTTGGTCTCCCG	0.637000													16	35					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71236176	71236176	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:71236176C>A	ENST00000418814.2	+	15	4003	c.3389C>A	c.(3388-3390)tCt>tAt	p.S1130Y	FAM135A_ENST00000361499.3_Missense_Mutation_p.S934Y|FAM135A_ENST00000370479.3_Missense_Mutation_p.S917Y|FAM135A_ENST00000457062.2_Missense_Mutation_p.S917Y|FAM135A_ENST00000505868.1_Missense_Mutation_p.S1130Y|FAM135A_ENST00000505769.1_Missense_Mutation_p.S710Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1130										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTACAAAATCTGAAAAAATA	0.383000													38	45					3.93418e-24	6.10317e-24	1	1	0
NLK	51701	broad.mit.edu	37	17	26370081	26370081	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:26370081T>A	ENST00000407008.3	+	1	900	c.182T>A	c.(181-183)gTa>gAa	p.V61E	NLK_ENST00000583517.1_Intron|NLK_ENST00000582037.1_Missense_Mutation_p.V61E	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	61					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCTGCCGCTGTACACCCTGTA	0.617000													5	6					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148816	25148816	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:25148816T>A	ENST00000549828.1	-	3	536	c.332A>T	c.(331-333)aAg>aTg	p.K111M	C12orf77_ENST00000549262.1_Missense_Mutation_p.K56M|C12orf77_ENST00000434912.3_Missense_Mutation_p.K56M	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	111										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CTTTACACTCTTTTCCGTGTT	0.458000													18	33					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230085	137230085	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:137230085G>T	ENST00000508638.1	+	4	366	c.311G>T	c.(310-312)tGg>tTg	p.W104L	PKD2L2_ENST00000290431.5_Missense_Mutation_p.W104L|PKD2L2_ENST00000350250.4_Missense_Mutation_p.W70L|PKD2L2_ENST00000502810.1_Missense_Mutation_p.W104L|PKD2L2_ENST00000508883.1_Missense_Mutation_p.W104L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	104						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGATTCATGGTACAATAAC	0.388000													31	36					2.08457e-15	2.88674e-15	1	1	0
EXOC6B	23233	broad.mit.edu	37	2	72802699	72802699	+	Silent	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:72802699T>A	ENST00000272427.6	-	7	898	c.768A>T	c.(766-768)acA>acT	p.T256T	EXOC6B_ENST00000410104.1_Silent_p.T256T	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	256					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTTCTATCTCTGTATCAAAGA	0.403000													15	33					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325628	152325628	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:152325628C>T	ENST00000388718.5	-	3	4706	c.4634G>A	c.(4633-4635)gGa>gAa	p.G1545E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1545							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGTCTGTCCATGAGTAAT	0.488000													238	254					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432088	140432088	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:140432088C>T	ENST00000306549.3	+	1	1110	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		345	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAATCCTCCCGAAGTGAT	0.507000													33	97					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237841400	237841400	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:237841400G>A	ENST00000366574.2	+	61	9200	c.8883G>A	c.(8881-8883)aaG>aaA	p.K2961K	RYR2_ENST00000360064.6_Silent_p.K2959K|RYR2_ENST00000542537.1_Silent_p.K2945K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2961	Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAAATCAAGTTCTTTGCAA	0.363000													5	13					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29598285	29598285	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:29598285G>T	ENST00000318184.5	-	23	2806	c.2807C>A	c.(2806-2808)cCg>cAg	p.P936Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	936	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCTCACCAGCGGTCCAGGACT	0.368000													22	59					9.95505e-16	1.39688e-15	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390929	197390929	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:197390929C>A	ENST00000367397.1	+	2	972	c.114C>A	c.(112-114)aaC>aaA	p.N38K	CRB1_ENST00000367399.2_Missense_Mutation_p.N545K|CRB1_ENST00000543483.1_Missense_Mutation_p.T287K|CRB1_ENST00000535699.1_Missense_Mutation_p.N588K|CRB1_ENST00000367400.3_Missense_Mutation_p.N657K|CRB1_ENST00000538660.1_Missense_Mutation_p.N657K|CRB1_ENST00000544212.1_Missense_Mutation_p.N138K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	657	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCTGGAGAACATCTCGTCTG	0.438000													75	126					1.93348e-29	3.10884e-29	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102304795	102304795	+	RNA	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:102304795G>A	ENST00000561463.1	+	0	12841																											GTGGGAAGAAGAAGACACTCC	0.592000													3	23					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888589	38888589	+	Missense_Mutation	SNP	G	G	T	rs141896424		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:38888589G>T	ENST00000302328.3	-	26	5170	c.4972C>A	c.(4972-4974)Cgt>Agt	p.R1658S	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1620S|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1658S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1658					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTTGCGACACGCAAAGGCTCA	0.428000													60	45					1.82294e-38	2.97634e-38	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75078447	75078447	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:75078447A>C	ENST00000326665.5	-	9	1265	c.1047T>G	c.(1045-1047)agT>agG	p.S349R	C1orf173_ENST00000420661.2_Missense_Mutation_p.S152R|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	349										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAAAGGTGAGACTGAAGGGGA	0.428000													13	37					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322963	61322963	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr18:61322963G>T	ENST00000283752.5	-	8	1244	c.1101C>A	c.(1099-1101)caC>caA	p.H367Q	SERPINB3_ENST00000332821.8_Missense_Mutation_p.H315Q|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	367					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATAGGAAAGGGTGATTACAAT	0.453000													52	41					6.17242e-35	1.00468e-34	1	1	0
TEP1	7011	broad.mit.edu	37	14	20851369	20851369	+	Silent	SNP	G	G	A	rs151198353		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:20851369G>A	ENST00000262715.5	-	27	4051	c.4011C>T	c.(4009-4011)taC>taT	p.Y1337Y	TEP1_ENST00000556935.1_Silent_p.Y1229Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1337	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCGCTTCCCGTACAGGGCCA	0.662000													5	29					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11725325	11725325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:11725325A>T	ENST00000381486.2	+	8	1240	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	GREB1_ENST00000381483.2_Nonsense_Mutation_p.K314*|GREB1_ENST00000263834.5_Nonsense_Mutation_p.K314*|GREB1_ENST00000234142.5_Nonsense_Mutation_p.K314*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	314						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAAACGCCACAAAGGGTGGTC	0.512000													6	30					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178412303	178412303	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:178412303G>T	ENST00000448150.3	+	8	2185	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	RASAL2_ENST00000367649.3_Missense_Mutation_p.R474I|RASAL2_ENST00000462775.1_Missense_Mutation_p.R326I	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	326	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATTAGTGTGAGAAATAAAGAG	0.438000													30	34					6.07407e-21	9.15437e-21	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43724619	43724619	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:43724619C>T	ENST00000263801.3	-	17	3685	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1150K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1150K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1150K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1145					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGGGCCTTTCAATCAAGGCC	0.458000								Other conserved DNA damage response genes					35	40					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577723	92577723	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:92577723G>C	ENST00000298047.6	+	18	11207	c.11190G>C	c.(11188-11190)gaG>gaC	p.E3730D	FAT3_ENST00000525166.1_Missense_Mutation_p.E3580D|FAT3_ENST00000533797.1_Missense_Mutation_p.E65D|FAT3_ENST00000409404.2_Missense_Mutation_p.E3730D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3730					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACACCTGGAGAATATCATGC	0.532000										TCGA Ovarian(4;0.039)			14	26					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99327125	99327125	+	Silent	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:99327125T>A	ENST00000375241.1	-	3	712	c.261A>T	c.(259-261)gcA>gcT	p.A87A	CDC14B_ENST00000375236.1_Silent_p.A87A|CDC14B_ENST00000375240.3_Silent_p.A87A|CDC14B_ENST00000463569.1_Silent_p.A87A|CDC14B_ENST00000265659.2_Silent_p.A87A|CDC14B_ENST00000375242.3_Silent_p.A50A	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	87	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GTCCAAAATCTGCGTAGAAGC	0.289000													4	10					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36122702	36122702	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:36122702T>C	ENST00000378660.1	+	8	1127	c.939T>C	c.(937-939)tgT>tgC	p.C313C	CHDC2_ENST00000313548.4_Silent_p.C313C					calponin homology domain containing 2																		TCAATCCTTGTTTTGCATCCA	0.373000													22	34					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814043	106814043	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:106814043T>C	ENST00000407775.2	+	8	1983	c.1733T>C	c.(1732-1734)aTg>aCg	p.M578T	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.M446T|ZFPM2_ENST00000378472.4_Missense_Mutation_p.M309T|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.M446T|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	578					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGCAGCAGATGGCTAAGTCC	0.453000													64	136					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374108	95374108	+	RNA	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:95374108G>C	ENST00000494840.1	-	0	1753					NR_077228.1																						TCGTGCAGCGGATGTTACAAT	0.393000													13	18					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475615	224475615	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:224475615T>C	ENST00000281701.6	-	14	1915	c.1656A>G	c.(1654-1656)gaA>gaG	p.E552E	NVL_ENST00000391875.2_Silent_p.E446E|NVL_ENST00000340871.4_Silent_p.E363E|NVL_ENST00000482491.1_Silent_p.E276E|NVL_ENST00000361463.3_Silent_p.E446E|NVL_ENST00000469075.1_Silent_p.E461E	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	552						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AATCATTCAGTTCAATGCACA	0.483000													13	48					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126223	62126223	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:62126223C>A	ENST00000217182.3	-	4	721	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	EEF1A2_ENST00000298049.7_Missense_Mutation_p.A186S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	186						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GGCACGGTGGCCGGGTTGTAG	0.632000													23	29					1.10923e-09	1.38719e-09	1	1	0
PTPN11	5781	broad.mit.edu	37	12	112926892	112926892	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:112926892G>T	ENST00000351677.2	+	13	1710	c.1512G>T	c.(1510-1512)atG>atT	p.M504I		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	508	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGTCAGGGATGGTCCAGACAG	0.463000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				61	135					7.50695e-29	1.19614e-28	1	1	0
TM4SF5	9032	broad.mit.edu	37	17	4684113	4684113	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:4684113G>T	ENST00000270560.3	+	2	238	c.207G>T	c.(205-207)cgG>cgT	p.R69R		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	69						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CAGCCGTTCGGGCAGGGGGCA	0.582000													9	8					0.000442599	0.000472046	1	1	0
GFI1B	8328	broad.mit.edu	37	9	135863739	135863739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:135863739G>T	ENST00000339463.3	+	8	1213	c.394G>T	c.(394-396)Gag>Tag	p.E132*	GFI1B_ENST00000534944.1_Nonsense_Mutation_p.E132*|GFI1B_ENST00000372124.1_Nonsense_Mutation_p.E132*|GFI1B_ENST00000372123.1_Nonsense_Mutation_p.E132*|GFI1B_ENST00000450530.1_Nonsense_Mutation_p.E132*|GFI1B_ENST00000372122.1_Nonsense_Mutation_p.E132*			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	132	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGCCTTCCTGGAGCACTCCGT	0.622000													18	49					8.28177e-16	1.16828e-15	1	1	0
CCAR1	55749	broad.mit.edu	37	10	70531197	70531197	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:70531197A>T	ENST00000265872.6	+	18	2652	c.2533A>T	c.(2533-2535)Agg>Tgg	p.R845W	CCAR1_ENST00000535016.1_Missense_Mutation_p.R830W|CCAR1_ENST00000543719.1_Missense_Mutation_p.R830W	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	845	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						tagagatgaaaggaagGTCTG	0.328000													5	14					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53073576	53073576	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:53073576G>A	ENST00000252244.3	-	1	615	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	186	Coil 1A.|Rod.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).|S -> P (in BCIE; dbSNP:rs60022878).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTTGTTGAGTGACTTGATTTG	0.483000													33	89					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106647735	106647735	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:106647735G>T	ENST00000515279.1	+	4	1114		c.e4-1		GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000515255.1_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCCTACCTAGGTAATTATCA	0.343000													4	7					0.00024832	0.000266994	1	1	0
CXorf21	80231	broad.mit.edu	37	X	30577855	30577855	+	Silent	SNP	A	A	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:30577855A>C	ENST00000378962.3	-	3	940	c.618T>G	c.(616-618)tcT>tcG	p.S206S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	206										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GAACTGCATTAGAAATAGGAT	0.418000													35	75					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830642	7830642	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:7830642G>T	ENST00000327325.5	+	4	451	c.333G>T	c.(331-333)gaG>gaT	p.E111D	CLEC4M_ENST00000248228.4_Missense_Mutation_p.E111D|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E111D|CLEC4M_ENST00000596363.1_Missense_Mutation_p.E83D|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E90D|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E90D|CLEC4M_ENST00000597522.1_Missense_Mutation_p.E111D|CLEC4M_ENST00000596707.1_Missense_Mutation_p.E90D|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E99D|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E83D	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	111	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCTGCAGGAGATCTACCAGG	0.552000													50	102					2.44813e-32	3.94836e-32	1	1	0
PAWR	5074	broad.mit.edu	37	12	80014936	80014936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:80014936C>A	ENST00000328827.4	-	3	940	c.568G>T	c.(568-570)Gaa>Taa	p.E190*		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	190	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ATTGCATCTTCTCGTTTCCGC	0.363000													39	69					5.59293e-11	7.23388e-11	1	1	0
PHLDA3	23612	broad.mit.edu	37	1	201437669	201437669	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:201437669C>G	ENST00000367311.3	-	1	643	c.246G>C	c.(244-246)gaG>gaC	p.E82D	PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82D|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						GGAAGTCGATCTCGCCGCCCC	0.652000													56	126					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101833253	101833253	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:101833253C>A	ENST00000254193.6	-	2	279	c.207G>T	c.(205-207)ttG>ttT	p.L69F	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	69						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCACTAACAATGTTTTCA	0.383000													29	20					5.52252e-06	6.30974e-06	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671819	49671819	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:49671819G>A	ENST00000561648.1	-	4	1297	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ZNF423_ENST00000567169.1_Missense_Mutation_p.S298F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S298F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S415F|ZNF423_ENST00000563137.2_Missense_Mutation_p.S355F|ZNF423_ENST00000562871.1_Missense_Mutation_p.S355F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S355F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	415					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTCCCGCTTGGAACAATAGGG	0.612000													73	68					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489103	72489103	+	Silent	SNP	C	C	A	rs143037838		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:72489103C>A	ENST00000373208.1	+	5	924	c.924C>A	c.(922-924)ctC>ctA	p.L308L	ADAMTS14_ENST00000373207.1_Silent_p.L308L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	308	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATATTGCCCTCGTCCGCTTGA	0.488000													14	40					9.16793e-09	1.12787e-08	1	1	0
MAP3K15	389840	broad.mit.edu	37	X	19387335	19387335	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:19387335G>T	ENST00000338883.4	-	25	3402	c.3403C>A	c.(3403-3405)Ctc>Atc	p.L1135I	MAP3K15_ENST00000469203.2_Missense_Mutation_p.L967I|MAP3K15_ENST00000359173.3_Missense_Mutation_p.L570I|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1135							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGGCTCGGAGCTCTGCAAAT	0.582000													29	68					7.26314e-15	9.97975e-15	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46252339	46252339	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:46252339C>A	ENST00000510861.1	-	10	1515	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W	GABRA2_ENST00000356504.1_Missense_Mutation_p.G448W|GABRA2_ENST00000540012.1_Missense_Mutation_p.G453W|GABRA2_ENST00000381620.4_Missense_Mutation_p.G448W|GABRA2_ENST00000514090.1_Missense_Mutation_p.G448W|GABRA2_ENST00000507069.1_Missense_Mutation_p.G508W			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	448					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGACTGACCCCTAATACAGGT	0.338000													10	32					0.000442599	0.000472046	1	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363405	21363405	+	RNA	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:21363405G>A	ENST00000452284.1	+	0	1072				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						TCACAGGGAGGCCGTGATGGA	0.562000													36	15					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59511904	59511904	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:59511904T>C	ENST00000038176.3	-	19	1684	c.1472A>G	c.(1471-1473)cAg>cGg	p.Q491R	NSMAF_ENST00000427130.2_Missense_Mutation_p.Q522R	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	491	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTGCTCTTCTGGAGAAAGTC	0.368000													26	56					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300823	18300823	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:18300823T>A	ENST00000441493.2	-	26	4956	c.4604A>T	c.(4603-4605)gAg>gTg	p.E1535V		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1535						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCTTGAGTCCTCAGTCTTGTC	0.627000													11	8					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388539	1388539	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:1388539C>A	ENST00000324803.4	+	1	3200	c.240C>A	c.(238-240)ccC>ccA	p.P80P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	80					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCATGTGCCCATGTGGAGTG	0.637000													104	234					8.16033e-55	1.35749e-54	1	1	0
CAMKMT	79823	broad.mit.edu	37	2	44993592	44993592	+	Silent	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:44993592A>T	ENST00000378494.3	+	10	830	c.786A>T	c.(784-786)ccA>ccT	p.P262P		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	262						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						TATTTGCCCCACGCCGAGGGA	0.368000													11	32					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183707211	183707211	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:183707211T>C	ENST00000295113.4	-	3	1196	c.587A>G	c.(586-588)aAc>aGc	p.N196S		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	196	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTTACCATAGTTGTAATTGTT	0.378000													11	41					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169564018	169564018	+	Silent	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:169564018A>G	ENST00000263686.6	-	13	2236	c.2199T>C	c.(2197-2199)caT>caC	p.H733H	SELP_ENST00000367786.2_Silent_p.H671H|SELP_ENST00000367794.2_Silent_p.H671H|SELP_ENST00000367793.2_Silent_p.H671H|SELP_ENST00000367792.2_Silent_p.H549H|SELP_ENST00000458599.2_Silent_p.H549H|SELP_ENST00000367791.2_Silent_p.H547H|SELP_ENST00000367788.2_Silent_p.H671H	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	733	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCTCTAGACAATGGAAAGAGC	0.458000													45	45					0	0	1	0	0
UQCRQ	27089	broad.mit.edu	37	5	132202560	132202560	+	Splice_Site	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:132202560G>C	ENST00000378670.3	+	2	128		c.e2-1		UQCRQ_ENST00000378665.1_5'UTR|UQCRQ_ENST00000378667.1_Splice_Site|UQCRQ_ENST00000496429.1_Intron	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa						respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGTCCTGCAGGGCCGCCGCC	0.677000													17	15					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121678937	121678937	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:121678937A>T	ENST00000393386.2	+	19	5907	c.5496A>T	c.(5494-5496)aaA>aaT	p.K1832N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K965N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1832	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCGTGGAGAAAGGAAGGGTAT	0.388000													18	41					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74395732	74395732	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:74395732C>A	ENST00000319380.7	-	9	1490	c.1426G>T	c.(1426-1428)Gca>Tca	p.A476S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	476							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCCTGCTCTGCCGAGTGCAGC	0.622000													30	79					1.2476e-16	1.79831e-16	1	1	0
BAP1	8314	broad.mit.edu	37	3	52442491	52442491	+	Splice_Site	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:52442491T>C	ENST00000460680.1	-	4	725	c.255_splice	c.e4+1	p.Q85_splice	BAP1_ENST00000296288.5_Splice_Site_p.Q85_splice	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	85					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCAGCAGACCTGGTGGGCAAA	0.507000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							8	7					0	0	1	0	0
MED7	9443	broad.mit.edu	37	5	156565775	156565775	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:156565775C>T	ENST00000286317.5	-	2	1049	c.668G>A	c.(667-669)tGt>tAt	p.C223Y	MED7_ENST00000420343.1_Missense_Mutation_p.C223Y	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	223					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATTAGGACACACAAGGCAGC	0.328000													17	81					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55564658	55564658	+	Silent	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:55564658C>G	ENST00000288135.5	+	3	643	c.546C>G	c.(544-546)ctC>ctG	p.L182L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	182	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCATCGGCTCTGTCTGCATT	0.532000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				35	41					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134679347	134679347	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:134679347G>T	ENST00000370752.4	+	3	523		c.e3-1		DDX26B_ENST00000493637.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTTTGCAGGCTGGTTGGA	0.353000													17	44					3.32936e-07	3.94011e-07	1	1	0
ACOX1	51	broad.mit.edu	37	17	73975108	73975108	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:73975108G>A	ENST00000293217.5	-	1	336	c.47C>T	c.(46-48)cCg>cTg	p.P16L	ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.P16L|ACOX1_ENST00000537812.1_5'UTR	NM_004035.6	NP_004026.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	16					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						AAGCAGCTCCGGGTTGAAGCT	0.662000													36	39					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108145560	108145560	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:108145560C>A	ENST00000228437.5	-	5	1217	c.758G>T	c.(757-759)gGt>gTt	p.G253V	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	253					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GGGTATCACACCACCATGTCC	0.537000													19	45					3.32936e-07	3.94011e-07	1	1	0
EXD1	161829	broad.mit.edu	37	15	41476288	41476288	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:41476288T>C	ENST00000314992.5	-	10	1576	c.1386A>G	c.(1384-1386)acA>acG	p.T462T	EXD1_ENST00000458580.2_Silent_p.T520T	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	462					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.T462T(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CAGCCTGTTTTGTGCATTTTA	0.398000													37	31					0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12727900	12727900	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:12727900C>G	ENST00000396663.1	+	2	503	c.21C>G	c.(19-21)gaC>gaG	p.D7E	ARL4A_ENST00000404894.1_Missense_Mutation_p.D7E|ARL4A_ENST00000396662.1_Missense_Mutation_p.D7E|ARL4A_ENST00000356797.3_Missense_Mutation_p.D7E|ARL4A_ENST00000396664.2_Missense_Mutation_p.D7E	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	7					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGCTGTCAGACCAGACTTCTA	0.438000													45	104					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209309526	209309526	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:209309526T>A	ENST00000272847.2	+	7	980	c.767T>A	c.(766-768)gTg>gAg	p.V256E	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	256						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGGATCCTGGTGGAAGGTCTC	0.383000													55	84					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20749701	20749701	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:20749701G>T	ENST00000400451.2	+	2	627	c.113G>T	c.(112-114)aGg>aTg	p.R38M	ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000405993.1_Missense_Mutation_p.R38M|ZNF74_ENST00000357502.5_Missense_Mutation_p.Q43H|ZNF74_ENST00000356671.5_Missense_Mutation_p.R38M	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	38					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCGAAGCCAGGTCCAAGGTG	0.537000													20	32					0.000132079	0.000144061	1	1	0
OR52H1	390067	broad.mit.edu	37	11	5566403	5566403	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:5566403G>T	ENST00000322653.4	-	1	376	c.351C>A	c.(349-351)gtC>gtA	p.V117V	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAATCCAGGACAAAGTTAT	0.453000													27	66					7.01153e-11	9.04659e-11	1	1	0
OR1L1	26737	broad.mit.edu	37	9	125424273	125424273	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:125424273T>C	ENST00000373686.1	+	1	429	c.429T>C	c.(427-429)tcT>tcC	p.S143S				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGACCATCTCTTACAGTGAGT	0.428000													77	150					0	0	1	0	0
RDH11	51109	broad.mit.edu	37	14	68157058	68157058	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:68157058C>A	ENST00000381346.4	-	5	645	c.535G>T	c.(535-537)Gca>Tca	p.A179S	RDH11_ENST00000553384.1_Missense_Mutation_p.A166S|RP11-1012A1.4_ENST00000553306.1_Silent_p.S9S|RDH11_ENST00000428130.2_Intron	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	179					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	AGGTGATGTGCGAGGGAAGAC	0.478000													35	50					2.47316e-13	3.30379e-13	1	1	0
HERC1	8925	broad.mit.edu	37	15	63922691	63922691	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:63922691C>T	ENST00000443617.2	-	69	13027	c.12940G>A	c.(12940-12942)Gcc>Acc	p.A4314T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4314					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCCCCCAGGCATACACATCT	0.448000													50	152					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080426	152080426	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:152080426C>T	ENST00000368804.1	-	2	5266	c.5267G>A	c.(5266-5268)cGt>cAt	p.R1756H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1756	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTCCGGACGGAGCTGCTC	0.592000													28	99					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223026	118223026	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:118223026G>T	ENST00000402510.2	-	11	2166	c.2167C>A	c.(2167-2169)Cag>Aag	p.Q723K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	723										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAACATCCTGGGCTGACTCC	0.413000													16	35					2.31682e-05	2.60212e-05	1	1	0
RGL3	57139	broad.mit.edu	37	19	11529392	11529392	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:11529392C>A	ENST00000380456.3	-	2	165	c.102G>T	c.(100-102)caG>caT	p.Q34H	RGL3_ENST00000393423.3_Missense_Mutation_p.Q34H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	34					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCTGACTGCGCTGCCGCCGCA	0.726000													4	2					0.000602214	0.000634604	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151927017	151927017	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:151927017G>A	ENST00000355193.2	-	18	3185	c.2967C>T	c.(2965-2967)gtC>gtT	p.V989V	KMT2C_ENST00000262189.6_Silent_p.V989V					lysine (K)-specific methyltransferase 2C																		CCTTAATACTGACACAGTATG	0.363000													13	121					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149809741	149809741	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:149809741G>T	ENST00000370396.2	+	8	582		c.e8-1		MTM1_ENST00000543350.1_Splice_Site|MTM1_ENST00000306167.7_Splice_Site|MTM1_ENST00000542741.1_Splice_Site|MTM1_ENST00000413012.2_Splice_Site	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1						endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTCACAGGGCTTGCCCA	0.438000													28	44					7.07758e-08	8.48989e-08	1	1	0
TTC31	64427	broad.mit.edu	37	2	74720367	74720367	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:74720367G>T	ENST00000442235.2	+	8	896	c.558G>T	c.(556-558)agG>agT	p.R186S	TTC31_ENST00000233623.5_3'UTR|TTC31_ENST00000410003.1_3'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	126							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCCCTCATAGGGCAGGGCCAT	0.537000													22	36					1.2644e-06	1.4798e-06	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112691	248112691	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:248112691T>C	ENST00000357191.3	+	1	532	c.532T>C	c.(532-534)Tgt>Cgt	p.C178R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCATTTCTTCTGTGATGTCCC	0.478000													82	145					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32745389	32745389	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr13:32745389C>A	ENST00000380250.3	+	18	2629	c.2133C>A	c.(2131-2133)aaC>aaA	p.N711K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACAAGCCAACAAAATCAGAA	0.373000													17	26					0.00400662	0.00414776	1	1	0
P2RY8	286530	broad.mit.edu	37	X	1584429	1584429	+	Silent	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:1584429A>T	ENST00000381297.4	-	2	1233	c.1023T>A	c.(1021-1023)ccT>ccA	p.P341P		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	341						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATCCCTTCAGGGTGCGCAC	0.721000			T	CRLF2	"""B-ALL, Downs associated ALL"""								30	63					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56094077	56094077	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:56094077G>T	ENST00000257880.7	-	5	990	c.771C>A	c.(769-771)cgC>cgA	p.R257R	ITGA7_ENST00000394230.2_Silent_p.R257R|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000553804.1_Silent_p.R257R|ITGA7_ENST00000555728.1_Silent_p.R257R|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Silent_p.R160R|ITGA7_ENST00000394229.2_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	257					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCGGGATGAGGCGGGGGTCCT	0.652000													8	22					0.000157383	0.00016991	1	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249111042	249111042	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:249111042G>C	ENST00000366472.5	-	3	1454	c.225C>G	c.(223-225)aaC>aaG	p.N75K	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.N43K|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	75										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTTCCACCTGGTTGATCTCCT	0.522000													20	70					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104242	53104242	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:53104242C>A	ENST00000408890.4	+	1	894	c.878C>A	c.(877-879)cCc>cAc	p.P293H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	293								p.P293H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGCTGGCCCCTTTGGCTCC	0.607000													22	55					3.62473e-10	4.58728e-10	1	1	0
IGF2BP3	10643	broad.mit.edu	37	7	23381702	23381702	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:23381702G>T	ENST00000258729.3	-	10	1540	c.1184C>A	c.(1183-1185)cCt>cAt	p.P395H		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	395					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CGGGTAGGGAGGAGTCATGGC	0.502000													9	13					1.76689e-08	2.15366e-08	1	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68046578	68046578	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:68046578G>A	ENST00000329153.5	+	22	3300	c.3168G>A	c.(3166-3168)ctG>ctA	p.L1056L	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1056	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGCACTGCCTGCAGGGAAGTG	0.602000													10	5					0	0	1	0	0
SDF2L1	23753	broad.mit.edu	37	22	21998425	21998425	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:21998425G>T	ENST00000248958.4	+	3	703	c.627G>T	c.(625-627)aaG>aaT	p.K209N		NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	209						endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					TCTTCATCAAGCCTAGTGTGG	0.597000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	29					2.94398e-08	3.57194e-08	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31263407	31263407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr18:31263407G>T	ENST00000269197.5	+	8	754	c.754G>T	c.(754-756)Gaa>Taa	p.E252*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATTGACATAGAAACCCCAGG	0.413000													6	7					3.59834e-05	4.01586e-05	1	1	0
HIST3H3	8290	broad.mit.edu	37	1	228612814	228612814	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:228612814C>T	ENST00000366696.1	-	1	212	c.213G>A	c.(211-213)ctG>ctA	p.L71L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	71					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TCTCGCGCATCAGCCGCTGGA	0.652000													97	94					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132075	42132075	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:42132075C>A	ENST00000221954.2	-	2	434	c.324G>T	c.(322-324)ctG>ctT	p.L108L	CEACAM4_ENST00000600925.1_Silent_p.L108L	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	108	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TGTTTTGGAACAGCAGGGATC	0.517000													51	128					6.9144e-35	1.122e-34	1	1	0
ADIG	149685	broad.mit.edu	37	20	37214709	37214709	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:37214709G>T	ENST00000537425.1	+	2	218	c.147G>T	c.(145-147)tgG>tgT	p.W49C		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	54					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GCTTGGATTGGGAGCCCTGGA	0.582000													5	9					0.000602214	0.000634604	1	1	0
POU4F2	5458	broad.mit.edu	37	4	147560544	147560544	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:147560544G>A	ENST00000281321.3	+	1	500	c.252G>A	c.(250-252)tcG>tcA	p.S84S		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	84					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gcgggggcTCGGAGGCTATGC	0.667000													12	21					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776037	5776037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:5776037G>T	ENST00000317254.3	+	1	115	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCCAGGACTGGAAGACACACA	0.413000													16	45					2.23348e-06	2.5741e-06	1	1	0
KIR2DL3	3804	broad.mit.edu	37	19	55250025	55250025	+	Silent	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:55250025C>G	ENST00000342376.3	+	1	46	c.15C>G	c.(13-15)gtC>gtG	p.V5V	KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Silent_p.V5V	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCATGGTCGTCAGCATGG	0.612000											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	38	51					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381718	68381718	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:68381718G>T	ENST00000361478.1	-	2	1741	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	PJA1_ENST00000374571.4_Missense_Mutation_p.S400Y|PJA1_ENST00000374583.1_Missense_Mutation_p.S455Y|PJA1_ENST00000374584.3_Missense_Mutation_p.S267Y	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	455							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTCCAGGGATGCCTGCTC	0.542000													48	130					1.56793e-16	2.24778e-16	1	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161018473	161018473	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:161018473C>T	ENST00000368013.3	-	12	2658	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E603K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	780	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATTTCTCCTCAGCAACTTGA	0.488000													70	208					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172660000	172660000	+	Missense_Mutation	SNP	T	T	G	rs137852686		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:172660000T>G	ENST00000329198.4	-	2	820	c.547A>C	c.(547-549)Aag>Cag	p.K183Q	NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	183			K -> E (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACCAGATCTTGACCTGCGTG	0.687000													6	23					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100378577	100378577	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:100378577G>T	ENST00000273352.3	+	14	2137	c.1869G>T	c.(1867-1869)ccG>ccT	p.P623P	GPR128_ENST00000475887.1_Silent_p.P328P|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAAAAAGTCCGCTGTTGTGGT	0.398000													26	45					1.42536e-11	1.85718e-11	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36211317	36211317	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:36211317G>T	ENST00000222270.7	+	3	1068	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	WBP7_ENST00000420124.1_Missense_Mutation_p.K356N|WBP7_ENST00000341701.1_Missense_Mutation_p.K356N|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					GCTGGAAAAAGCAGGAACAGA	0.483000													5	10					1.23904e-05	1.40655e-05	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996190	140996190	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:140996190G>C	ENST00000285879.4	+	4	3286	c.3000G>C	c.(2998-3000)ctG>ctC	p.L1000L	MAGEC1_ENST00000406005.2_Silent_p.L67L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1000	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCTCCTGATTCTTATTC	0.517000										HNSCC(15;0.026)			55	124					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28309993	28309993	+	Splice_Site	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:28309993T>C	ENST00000380254.2	-	6	656	c.507_splice	c.e6-1	p.T170_splice	FBXO16_ENST00000517436.1_Intron|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000518734.1_Splice_Site_p.T158_splice|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000346498.2_Splice_Site_p.T158_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	170										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTTGGGGGTGTCTAGAAGAAG	0.468000													16	11					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691255	39691255	+	Splice_Site	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:39691255G>C	ENST00000339852.4	+	6	709		c.e6-1			NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)						protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGTCACCACAGGTGTCCCACG	0.602000													47	124					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28844058	28844058	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:28844058C>A	ENST00000357727.2	+	8	1335	c.945C>A	c.(943-945)caC>caA	p.H315Q	CREB5_ENST00000396298.2_Missense_Mutation_p.H176Q|CREB5_ENST00000396299.2_Missense_Mutation_p.H282Q|CREB5_ENST00000409603.1_Missense_Mutation_p.H282Q|CREB5_ENST00000396300.2_Missense_Mutation_p.H308Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	315					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						cacatcaccactcccattccc	0.592000													41	75					1.07121e-22	1.63777e-22	1	1	0
EMR1	2015	broad.mit.edu	37	19	6937352	6937352	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:6937352A>T	ENST00000312053.4	+	19	2517	c.2480A>T	c.(2479-2481)tAc>tTc	p.Y827F	EMR1_ENST00000381407.5_Missense_Mutation_p.Y686F|EMR1_ENST00000450315.3_Missense_Mutation_p.Y650F|EMR1_ENST00000250572.8_Missense_Mutation_p.Y762F|EMR1_ENST00000381404.4_Missense_Mutation_p.Y808F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	827					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GTCATGGCTTACCTGTTCACC	0.572000													31	75					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68305259	68305259	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:68305259A>T	ENST00000393799.2	+	3	394	c.127A>T	c.(127-129)Aaa>Taa	p.K43*	PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.K43*|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.K43*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	43					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAGAACCGCAAACTTATAGA	0.363000													12	21					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764068	135764068	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:135764068G>T	ENST00000250617.6	-	14	2744	c.1539C>A	c.(1537-1539)gaC>gaA	p.D513E	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.D359E|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.D386E|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.D359E	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	513	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CAAATGTGCAGTCATTCCCTT	0.318000													17	31					2.35188e-11	3.05687e-11	1	1	0
AP3B1	8546	broad.mit.edu	37	5	77411967	77411967	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:77411967T>A	ENST00000255194.6	-	18	2235	c.2060A>T	c.(2059-2061)gAt>gTt	p.D687V	AP3B1_ENST00000519295.1_Missense_Mutation_p.D638V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	687	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACTGCTACTATCAGAAGAGTC	0.353000									Hermansky-Pudlak syndrome				15	32					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113358326	113358326	+	Splice_Site	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:113358326C>A	ENST00000297405.5	-	41	6686	c.6442_splice	c.e41+1	p.G2148_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G2044_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G2078_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G2108_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2148	CUB 12.					integral to membrane|plasma membrane				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						ATACACATACCAAAACCTATG	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	89					3.41278e-10	4.32941e-10	1	1	0
NTNG1	22854	broad.mit.edu	37	1	108023385	108023385	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:108023385G>T	ENST00000370067.1	+	7	1933	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	NTNG1_ENST00000542803.1_Missense_Mutation_p.G515C|NTNG1_ENST00000370066.1_Missense_Mutation_p.G456C|NTNG1_ENST00000370071.2_Missense_Mutation_p.G456C|NTNG1_ENST00000370061.3_Missense_Mutation_p.G481C|NTNG1_ENST00000370065.1_Missense_Mutation_p.G470C|NTNG1_ENST00000370074.4_Missense_Mutation_p.G414C|NTNG1_ENST00000370068.1_Missense_Mutation_p.G515C|NTNG1_ENST00000370070.2_Missense_Mutation_p.G436C|NTNG1_ENST00000370072.3_Missense_Mutation_p.G470C|NTNG1_ENST00000370073.2_Missense_Mutation_p.G515C			Q9Y2I2	NTNG1_HUMAN	netrin G1	515	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTCTGGCCAGGGCGCGCCCCC	0.706000													8	11					0.000157383	0.00016991	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10379967	10379967	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:10379967G>T	ENST00000397077.1	-	21	3753	c.3178C>A	c.(3178-3180)Ccg>Acg	p.P1060T	ATP2B2_ENST00000383800.4_Missense_Mutation_p.P1060T|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P1105T|ATP2B2_ENST00000352432.4_Missense_Mutation_p.P1105T|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P1091T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1105					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCTCCTCCGGGATCTCCTCC	0.632000													31	21					1.88708e-17	2.73498e-17	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63269075	63269075	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:63269075G>T	ENST00000322893.7	-	9	2062	c.1794C>A	c.(1792-1794)atC>atA	p.I598I	KCNH5_ENST00000420622.2_Silent_p.I598I|KCNH5_ENST00000394968.1_Silent_p.I540I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	598					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATCATCCTGGATGACTTCCA	0.438000													38	46					1.60099e-16	2.28898e-16	1	1	0
MAGT1	84061	broad.mit.edu	37	X	77126323	77126323	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:77126323G>T	ENST00000358075.6	-	3	554	c.468C>A	c.(466-468)ggC>ggA	p.G156G	MAGT1_ENST00000373336.3_Silent_p.G124G	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	124					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ATACATCAGAGCCTTCATCAA	0.368000													18	69					1.45105e-14	1.98348e-14	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50732792	50732792	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:50732792G>A	ENST00000355832.5	-	5	762	c.684C>T	c.(682-684)ctC>ctT	p.L228L	ERCC6-PGBD3_ENST00000515869.1_Silent_p.L228L|ERCC6-PGBD3_ENST00000447839.2_Silent_p.L228L|PGBD3_ENST00000603152.1_Silent_p.L228L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	228					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGACAGGCATGAGCATGCTGC	0.517000								Direct reversal of damage;Nucleotide excision repair (NER)					26	68					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	73					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042545	90042545	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:90042545G>C	ENST00000535571.1	+	2	864	c.555G>C	c.(553-555)ctG>ctC	p.L185L	CLDN12_ENST00000287916.4_Silent_p.L185L|CLDN12_ENST00000394605.2_Silent_p.L185L	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	185					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTGGGGGCCTGTTTATGACTT	0.403000													61	145					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112419	248112419	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:248112419G>T	ENST00000357191.3	+	1	260	c.260G>T	c.(259-261)gGa>gTa	p.G87V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTCTGCATGGAAACAAGTCT	0.443000													182	206					1.67521e-82	2.80438e-82	1	1	0
SYPL2	284612	broad.mit.edu	37	1	110022073	110022073	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:110022073G>C	ENST00000369872.3	+	6	938	c.722G>C	c.(721-723)gGa>gCa	p.G241A	SYPL2_ENST00000401021.3_Missense_Mutation_p.G177A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	241						integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCGTGGCATGGAcagggccag	0.582000													30	68					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380739	147380739	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:147380739C>T	ENST00000240986.4	+	2	710	c.657C>T	c.(655-657)ctC>ctT	p.L219L	GJA8_ENST00000369235.1_Silent_p.L219L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	219					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCCTATTCCTCAACGTGATGG	0.592000													59	63					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4.					integral to membrane|plasma membrane		p.R758Q(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						AAGATGTATCCGGCTCCCTGG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	93					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53608603	53608603	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr13:53608603C>G	ENST00000219022.2	+	2	403	c.325C>G	c.(325-327)Ctt>Gtt	p.L109V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	109					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGCTCATGTTCTTTCTCAGAA	0.418000													10	23					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46867782	46867782	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:46867782A>T	ENST00000243167.8	+	2	299	c.215A>T	c.(214-216)gAg>gTg	p.E72V	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	72					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTGGACTCAGAGGCGCTGCTA	0.607000													4	5					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551540	99551540	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:99551540G>A	ENST00000373034.4	-	6	4857	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	PCDH19_ENST00000255531.7_Missense_Mutation_p.A1014V|PCDH19_ENST00000420881.2_Missense_Mutation_p.A1013V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1061					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGGGCTAATCGCCTCACAGCC	0.607000													4	78					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074181	216074181	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:216074181G>C	ENST00000366943.2	-	39	7753	c.7367C>G	c.(7366-7368)tCt>tGt	p.S2456C	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S2456C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2456	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTGGTGTAGACCAGACAAC	0.507000										HNSCC(13;0.011)			73	72					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129843275	129843275	+	Translation_Start_Site	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:129843275C>A	ENST00000338144.3	-	0	408				ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000370927.1_De_novo_Start_OutOfFrame	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2						cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTGTGTGGTCCTCAACTGTGA	0.458000													23	62					3.08376e-08	3.73298e-08	1	1	0
ADIPOR1	51094	broad.mit.edu	37	1	202912948	202912948	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:202912948G>T	ENST00000340990.5	-	6	1041	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.S248Y|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.F158L	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	248					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AATGATGGCAGAAATGCCCAG	0.532000													17	59					1.99824e-07	2.37543e-07	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611767	84611767	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:84611767C>T	ENST00000286744.5	+	19	2647	c.2423C>T	c.(2422-2424)gCa>gTa	p.A808V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A808V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	808	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGACCCAAGGCATCGTCTCAC	0.527000													27	44					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52565300	52565300	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:52565300G>C	ENST00000394815.2	-	9	1338	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	414	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCCTGATCTGGAGGCAGCTAC	0.547000													14	27					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508950	26508950	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:26508950G>A	ENST00000244513.6	+	7	1195	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	377	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CGTGTGTAGGGAGAATGTGAT	0.557000													30	122					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134010908	134010908	+	Splice_Site	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:134010908G>A	ENST00000398844.2	+	6	1439		c.e6+1		SEC24A_ENST00000322887.4_Splice_Site	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAACCCAGAGTAAGGCTTCA	0.388000													13	41					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997491	2997491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:2997491G>T	ENST00000489288.2	+	3	735	c.583G>T	c.(583-585)Gga>Tga	p.G195*	RHNO1_ENST00000461997.2_Nonsense_Mutation_p.G181*|RHNO1_ENST00000464682.2_3'UTR	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		CCCAGAGCCTGGACCTGTTCT	0.507000													37	76					2.75727e-19	4.08571e-19	1	1	0
ROR2	4920	broad.mit.edu	37	9	94499745	94499745	+	Missense_Mutation	SNP	G	G	T	rs121909084		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:94499745G>T	ENST00000375708.3	-	5	748	c.550C>A	c.(550-552)Cgc>Agc	p.R184S	ROR2_ENST00000375715.1_Missense_Mutation_p.R44S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	184	FZ.		R -> C (in RRS).		negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAATGAAGCGTGCACAGGCA	0.527000													33	70					1.22384e-17	1.7835e-17	1	1	0
DQX1	165545	broad.mit.edu	37	2	74751342	74751342	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:74751342C>A	ENST00000404568.3	-	4	743	c.524G>T	c.(523-525)cGg>cTg	p.R175L	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.R175L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	175	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGCCACCGACCGCTCCTGAGC	0.607000													42	100					1.47197e-15	2.05454e-15	1	1	0
MUC6	4588	broad.mit.edu	37	11	1013997	1013997	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:1013997G>T	ENST00000421673.2	-	32	7094	c.7044C>A	c.(7042-7044)gtC>gtA	p.V2348V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2348					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCACACTGCAGACCCCTGGTA	0.657000													5	13					1.23904e-05	1.40655e-05	1	1	0
GBA3	57733	broad.mit.edu	37	4	22737821	22737821	+	RNA	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:22737821C>T	ENST00000503442.1	+	0	367				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.I92I(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGTTTCATCAACCAGAAAG	0.408000													29	54					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760495	153760495	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:153760495G>T	ENST00000393562.2	-	12	1838	c.1454_splice	c.e12-1	p.S485_splice	G6PD_ENST00000393564.2_Splice_Site_p.S455_splice|G6PD_ENST00000369620.2_Splice_Site_p.S501_splice	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	455					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGCTCGTCGCTGAGGGGAC	0.617000													16	32					8.60227e-14	1.16384e-13	1	1	0
MURC	347273	broad.mit.edu	37	9	103348392	103348392	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:103348392G>A	ENST00000307584.5	+	2	819	c.754G>A	c.(754-756)Ggg>Agg	p.G252R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	252					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAGACAGTCAGGGGAGAGGTT	0.502000													59	99					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13346491	13346491	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:13346491G>C	ENST00000360228.5	-	32	5003	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1669M|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1669					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGAAGTTTGATGAGCCGGG	0.567000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	51					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76254929	76254929	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:76254929T>C	ENST00000319942.3	+	3	268	c.197T>C	c.(196-198)aTg>aCg	p.M66T	RABGGTB_ENST00000370826.3_Missense_Mutation_p.M66T|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	66					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CTTCATCGCATGAATAGAGAA	0.378000													11	60					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50051913	50051913	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:50051913G>A	ENST00000376042.1	+	6	1042	c.744G>A	c.(742-744)tcG>tcA	p.S248S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.S248S			Q8WWL7	CCNB3_HUMAN	cyclin B3	248					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAAGAGTCGTTGGCTGTGC	0.448000													34	79					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122537305	122537305	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:122537305G>T	ENST00000264357.5	+	9	1520	c.1228G>T	c.(1228-1230)Gat>Tat	p.D410Y	GRIA3_ENST00000371256.5_Missense_Mutation_p.D410Y|GRIA3_ENST00000371251.1_Missense_Mutation_p.D410Y|GRIA3_ENST00000542149.1_Missense_Mutation_p.D410Y|GRIA3_ENST00000541091.1_Missense_Mutation_p.D394Y	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	410					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			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)	GCCTTTCTCAGATCAGCAAAT	0.443000													68	146					1.15074e-40	1.88465e-40	1	1	0
ZBTB43	23099	broad.mit.edu	37	9	129595619	129595619	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:129595619G>T	ENST00000373464.4	+	3	1095	c.831G>T	c.(829-831)caG>caT	p.Q277H	ZBTB43_ENST00000373457.1_Missense_Mutation_p.Q277H|ZBTB43_ENST00000449886.1_Missense_Mutation_p.Q277H	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACACCGTGCAGACAGAGCACA	0.562000													7	23					8.12818e-05	8.93931e-05	1	1	0
NRSN1	140767	broad.mit.edu	37	6	24134685	24134685	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:24134685T>A	ENST00000378491.4	+	3	431	c.130T>A	c.(130-132)Tat>Aat	p.Y44N	NRSN1_ENST00000378475.1_Missense_Mutation_p.Y44N|NRSN1_ENST00000378478.1_Missense_Mutation_p.Y44N	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	44					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AATTTGGGAGTATGAGGATGA	0.488000													18	25					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901696	51901696	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:51901696G>T	ENST00000268919.4	+	1	1458	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	434	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCATCCTGAAGTCAGGACGGA	0.507000													12	39					4.36969e-10	5.51686e-10	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113249521	113249521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:113249521C>A	ENST00000297405.5	-	67	10769	c.10525G>T	c.(10525-10527)Gga>Tga	p.G3509*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3340*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3439*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3469*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3509						integral to membrane|plasma membrane				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						TGTTTCCTTCCTTTGAAATTG	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	58					7.45023e-12	9.77958e-12	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186672557	186672557	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:186672557C>A	ENST00000343098.5	+	17	18791	c.18791C>A	c.(18790-18792)tCt>tAt	p.S6264Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6175Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATAAGCTGTCTTATAACATA	0.323000													10	29					0.00621372	0.00640752	1	1	0
CDX4	1046	broad.mit.edu	37	X	72673429	72673429	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:72673429T>A	ENST00000373514.2	+	2	579	c.579T>A	c.(577-579)caT>caA	p.H193Q		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGAATTCCATTGCAATAGAT	0.423000													18	19					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104193	62104193	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:62104193G>C	ENST00000551449.1	-	3	290	c.112C>G	c.(112-114)Cca>Gca	p.P38A	FAM19A2_ENST00000550003.1_Silent_p.T33T|FAM19A2_ENST00000416284.3_Silent_p.T130T|FAM19A2_ENST00000551619.1_Silent_p.T130T			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGGTTAATGGGTTACCTACA	0.328000													31	55					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976699	55976699	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:55976699T>C	ENST00000263923.4	-	9	1421	c.1126A>G	c.(1126-1128)Aca>Gca	p.T376A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	376	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCTTTAATTGTGTGATTGGAC	0.378000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			14	34					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903176	129903176	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:129903176C>A	ENST00000368654.3	-	13	7303	c.6928G>T	c.(6928-6930)Gcc>Tcc	p.A2310S	MKI67_ENST00000368653.3_Missense_Mutation_p.A1950S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2310	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCCTGGGCCTTTTCCTTA	0.483000													112	235					1.00528e-58	1.67758e-58	1	1	0
SLC9B2	133308	broad.mit.edu	37	4	103947533	103947533	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr4:103947533T>A	ENST00000394785.3	-	12	2239	c.1608A>T	c.(1606-1608)caA>caT	p.Q536H	SLC9B2_ENST00000362026.3_Missense_Mutation_p.Q536H|SLC9B2_ENST00000503103.1_3'UTR|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Missense_Mutation_p.Q479H	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	536					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ACCTCTAAACTTGCACAGAAG	0.358000													18	38					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725385	38725385	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:38725385G>A	ENST00000409072.3	-	2	1155	c.221C>T	c.(220-222)gCt>gTt	p.A74V						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CCCCTGGGCAGCATGGTGAAT	0.562000													44	97					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179765592	179765592	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:179765592C>T	ENST00000253778.8	-	2	185	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	6	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTCATGTAGGCAAAGATTCCT	0.512000													7	14					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112266825	112266825	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:112266825A>T	ENST00000369583.3	+	3	945	c.661A>T	c.(661-663)Acc>Tcc	p.T221S	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	221	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGCCTGCGCGACCCACCTACA	0.547000													30	160					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108174704	108174704	+	Missense_Mutation	SNP	T	T	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:108174704T>G	ENST00000273353.3	-	21	2257	c.2201A>C	c.(2200-2202)tAc>tCc	p.Y734S	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	734	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGAATGCAGTACCTAATTTA	0.353000													15	42					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73230871	73230871	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:73230871G>T	ENST00000377110.2	-	17	2686	c.2443C>A	c.(2443-2445)Cca>Aca	p.P815T	TRPM3_ENST00000423814.3_Missense_Mutation_p.P842T|TRPM3_ENST00000377105.1_Missense_Mutation_p.P674T|TRPM3_ENST00000377106.1_Missense_Mutation_p.P687T|TRPM3_ENST00000408909.2_Missense_Mutation_p.P674T|TRPM3_ENST00000396280.5_Missense_Mutation_p.P664T|TRPM3_ENST00000377111.2_Missense_Mutation_p.P815T|TRPM3_ENST00000396285.1_Missense_Mutation_p.P662T|TRPM3_ENST00000360823.2_Missense_Mutation_p.P677T|TRPM3_ENST00000396292.4_Missense_Mutation_p.P687T|TRPM3_ENST00000358082.3_Missense_Mutation_p.P677T|TRPM3_ENST00000357533.2_Missense_Mutation_p.P819T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	840						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGCTTCTCTGGTTCTTCTGCC	0.458000													20	42					1.2644e-06	1.4798e-06	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118485650	118485650	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:118485650C>T	ENST00000311085.8	+	18	4208	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	DMXL1_ENST00000539542.1_Silent_p.I1376I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1376										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTCTCACAATCAGTGCTAGTG	0.453000													16	58					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87162418	87162418	+	Silent	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:87162418C>G	ENST00000285393.3	+	6	859	c.717C>G	c.(715-717)acC>acG	p.T239T	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	239					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACCGAGAGACCCTCTATCCAA	0.478000													27	63					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906649	56906649	+	Missense_Mutation	SNP	C	C	T	rs121909383		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:56906649C>T	ENST00000438926.2	+	8	1075	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	SLC12A3_ENST00000563236.1_Missense_Mutation_p.P349L|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P348L|SLC12A3_ENST00000262502.5_Missense_Mutation_p.P348L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	349			P -> L (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATCTTCTTCCCCTCGGCCACA	0.567000													19	72					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89654383	89654383	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:89654383T>A	ENST00000355754.6	-	8	1389	c.1292A>T	c.(1291-1293)cAc>cTc	p.H431L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	431						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TTCTGTCAGGTGCTCTGAAAG	0.448000													79	182					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242499	87242499	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:87242499C>A	ENST00000297524.3	-	1	111	c.8G>T	c.(7-9)aGa>aTa	p.R3I	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R3I|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	3						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTTCTCCCCTCTATCCATTGT	0.348000													18	27					5.01169e-05	5.5233e-05	1	1	0
LYPLAL1	127018	broad.mit.edu	37	1	219347247	219347247	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:219347247G>C	ENST00000366928.5	+	1	62	c.15G>C	c.(13-15)tcG>tcC	p.S5S	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.S5S|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	5						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		CGGCTGCGTCGGGGTCGGTTC	0.657000													31	32					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237275	30237275	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:30237275T>C	ENST00000378988.4	+	2	679	c.578T>C	c.(577-579)cTc>cCc	p.L193P		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	193	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAATCCCTGCTCAGTTCCTGG	0.493000													10	23					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	19					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518709	129518709	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:129518709C>A	ENST00000276218.2	-	1	802	c.713G>T	c.(712-714)tGg>tTg	p.W238L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	238						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GAAGGGGGTCCAGGATAGAGC	0.582000													35	85					1.99505e-19	2.96456e-19	1	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90534128	90534128	+	RNA	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:90534128G>A	ENST00000602681.1	+	0	874																											GGGGCAGAGAGGGAGAGCCGG	0.602000													15	30					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30727940	30727940	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:30727940G>C	ENST00000263056.1	+	3	769	c.73G>C	c.(73-75)Gat>Cat	p.D25H	MAP3K8_ENST00000375322.2_Missense_Mutation_p.D25H|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D25H|MAP3K8_ENST00000375321.1_Missense_Mutation_p.D25H	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	25					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AAATGTGTCTGATGTAATAGA	0.353000													17	17					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530675	140530675	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:140530675C>A	ENST00000231136.1	+	1	837	c.837C>A	c.(835-837)gcC>gcA	p.A279A	PCDHB6_ENST00000543635.1_Silent_p.A143A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		279	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCTTACGCCCTGTTTCAAG	0.463000													32	89					1.30897e-18	1.92882e-18	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685608	125685608	+	Missense_Mutation	SNP	G	G	T	rs77412713		TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:125685608G>T	ENST00000371126.1	-	1	1226	c.984C>A	c.(982-984)caC>caA	p.H328Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	328										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAAAGAGACGTGGGAATGGG	0.592000													29	62					1.75199e-13	2.34633e-13	1	1	0
EXOG	9941	broad.mit.edu	37	3	38548393	38548393	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr3:38548393G>T	ENST00000287675.5	+	5	675	c.579G>T	c.(577-579)tgG>tgT	p.W193C	EXOG_ENST00000422077.2_Missense_Mutation_p.W143C|EXOG_ENST00000358249.2_Missense_Mutation_p.W53C	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	193						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AAGATGTTTGGGTGGTATCTG	0.348000													24	23					1.77063e-15	2.45844e-15	1	1	0
C5orf54	63920	broad.mit.edu	37	5	159821568	159821568	+	Silent	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:159821568T>A	ENST00000408953.3	-	2	1437	c.930A>T	c.(928-930)ctA>ctT	p.L310L	C5orf54_ENST00000523213.1_Silent_p.L310L	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	310										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aagcctgaaataggcgatgat	0.403000													28	77					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40077281	40077281	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:40077281C>T	ENST00000324616.5	+	9	1435	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	C12orf40_ENST00000405531.3_Silent_p.N427N|C12orf40_ENST00000398716.1_Silent_p.N350N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	427										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATCCAGCAAACTCTATGTAAG	0.323000													7	22					0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171461	3171461	+	Silent	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:3171461C>A	ENST00000354488.3	-	9	840	c.783G>T	c.(781-783)gtG>gtT	p.V261V	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	261	PCI.					endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGTCGTCAATCACACCTGTGG	0.632000													5	15					0.184627	0.185328	1	1	0
ARHGDIG	398	broad.mit.edu	37	16	332523	332523	+	Silent	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:332523C>G	ENST00000219409.3	+	5	546	c.471C>G	c.(469-471)ggC>ggG	p.G157G		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	157					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCGCCGGGGCCTGCGCGGTG	0.682000													7	13					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959666	38959666	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:38959666G>A	ENST00000355481.4	+	26	3573	c.3442G>A	c.(3442-3444)Gtt>Att	p.V1148I	RYR1_ENST00000360985.3_Missense_Mutation_p.V1148I|RYR1_ENST00000359596.3_Missense_Mutation_p.V1148I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1148	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGCGATGTCGTTGGCTGTAT	0.587000													5	92					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24366256	24366256	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:24366256A>G	ENST00000005284.3	+	3	1600	c.398A>G	c.(397-399)aAc>aGc	p.N133S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	133					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|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGCAGACACAACGTCATTCTC	0.587000													16	31					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432868	110432868	+	Silent	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:110432868T>C	ENST00000378402.5	+	23	2750	c.2646T>C	c.(2644-2646)acT>acC	p.T882T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	882					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACCATGACTTCATACAATT	0.343000										HNSCC(38;0.096)			29	41					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305724	32305724	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:32305724C>T	ENST00000357033.4	-	43	6418	c.6212G>A	c.(6211-6213)aGg>aAg	p.R2071K	DMD_ENST00000378677.2_Missense_Mutation_p.R2067K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2071					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGCTTCACCCTTTCCACAGG	0.403000													28	45					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140867176	140867176	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:140867176G>A	ENST00000306593.1	+	1	2436	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G	PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCTATGGGCTAGAGGTGA	0.532000													16	34					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076803	93076803	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:93076803C>A	ENST00000510627.4	-	1	540	c.467G>T	c.(466-468)gGg>gTg	p.G156V	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	156	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AAGCACCTTCCCAAACAGAGC	0.572000													19	56					5.35267e-07	6.30637e-07	1	1	0
MYPN	84665	broad.mit.edu	37	10	69881369	69881369	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:69881369T>A	ENST00000358913.5	+	2	662	c.174T>A	c.(172-174)gaT>gaA	p.D58E	MYPN_ENST00000540630.1_Missense_Mutation_p.D58E|MYPN_ENST00000373675.3_Missense_Mutation_p.D58E|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	58	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGGCCAAGATGACCTTCCAG	0.537000													38	60					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010122	35010122	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:35010122C>G	ENST00000231420.6	-	12	1521	c.1321G>C	c.(1321-1323)Gaa>Caa	p.E441Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	441					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGCACCATTTCTATGCCTATC	0.453000													38	41					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84317476	84317476	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:84317476T>C	ENST00000428679.2	-	13	1557	c.964A>G	c.(964-966)Att>Gtt	p.I322V	SNAP91_ENST00000437520.1_Missense_Mutation_p.I306V|SNAP91_ENST00000369694.2_Missense_Mutation_p.I322V|SNAP91_ENST00000521485.1_Missense_Mutation_p.I322V|SNAP91_ENST00000520213.1_Missense_Mutation_p.I306V|SNAP91_ENST00000439399.2_Missense_Mutation_p.I322V|SNAP91_ENST00000195649.6_Missense_Mutation_p.I322V|SNAP91_ENST00000520302.1_Missense_Mutation_p.I320V|SNAP91_ENST00000521743.1_Missense_Mutation_p.I322V			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	322					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GATGTGTCAATAGTTTTAGCT	0.393000													3	2					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40945391	40945391	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:40945391G>C	ENST00000313164.9	+	7	1018	c.659G>C	c.(658-660)cGg>cCg	p.R220P		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	220	MACPF.		R -> Q (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.R220L(1)					Ovarian(839;0.0112)				TCATCTAGTCGGAAGCGCTCC	0.313000													11	10					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79424530	79424530	+	Silent	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:79424530G>T	ENST00000307745.7	+	21	4953	c.4953G>T	c.(4951-4953)gtG>gtT	p.V1651V																								GGGCCAGTGTGGCCGTGCTGG	0.637000													7	4					1.06961e-07	1.28015e-07	1	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111601987	111601987	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:111601987C>A	ENST00000261486.5	-	5	652	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	126	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGCAGACGGCCCTGAAGGACA	0.463000													13	4					0.000308642	0.00033118	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29630155	29630155	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:29630155A>T	ENST00000318184.5	-	12	1256	c.1257T>A	c.(1255-1257)tgT>tgA	p.C419*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	419	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAGACTCCCACAACCTGACC	0.448000													18	45					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256134	84256134	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:84256134T>A	ENST00000308251.4	-	3	1317	c.1249A>T	c.(1249-1251)Aca>Tca	p.T417S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCCACCGTTGTCATGGAGATG	0.642000													23	18					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418718	19418718	+	Silent	SNP	G	G	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:19418718G>C	ENST00000538714.1	+	8	649	c.645G>C	c.(643-645)ctG>ctC	p.L215L	PLEKHA5_ENST00000424268.1_Silent_p.L107L|PLEKHA5_ENST00000359180.3_Silent_p.L215L|PLEKHA5_ENST00000429027.2_Silent_p.L215L|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Silent_p.L215L|PLEKHA5_ENST00000317589.4_Silent_p.L215L|PLEKHA5_ENST00000543806.1_Silent_p.L107L|PLEKHA5_ENST00000355397.3_Silent_p.L215L|PLEKHA5_ENST00000299275.6_Silent_p.L215L|PLEKHA5_ENST00000539256.1_5'UTR	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	215	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAAGCATACTGTTACCTAGTT	0.318000													13	27					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78212424	78212424	+	RNA	SNP	T	T	C			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:78212424T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGTCCTGCTCTAGCTGGACTT	0.547000													7	116					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100331257	100331257	+	Silent	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr9:100331257C>T	ENST00000395211.2	+	8	944	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TMOD1_ENST00000259365.3_Silent_p.L270L|TMOD1_ENST00000375175.1_Silent_p.L143L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	270					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		AGCTGGGATTCTGCGCCTGGT	0.483000													29	55					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70970922	70970922	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr8:70970922G>T	ENST00000276594.2	-	6	1540	c.1339C>A	c.(1339-1341)Ctt>Att	p.L447I		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGGATCCGAAGCCGGTCCCGC	0.507000													29	35					1.88708e-17	2.73498e-17	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4705765	4705765	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:4705765C>A	ENST00000540757.2	+	6	590	c.430C>A	c.(430-432)Cag>Aag	p.Q144K	DYRK4_ENST00000010132.5_Missense_Mutation_p.Q144K|DYRK4_ENST00000543431.1_Missense_Mutation_p.Q144K	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	144	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTTTCACCAGCAGGCCCTGAT	0.522000													15	22					6.31663e-08	7.59431e-08	1	1	0
SAMD4B	55095	broad.mit.edu	37	19	39870704	39870704	+	Silent	SNP	G	G	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:39870704G>A	ENST00000314471.6	+	12	2664	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Silent_p.Q543Q	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	543							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGAGATGCAGAACTACCGGC	0.572000													10	17					0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16562728	16562728	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:16562728C>T	ENST00000298943.3	-	1	1276	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	113						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ATGGCCCCGGCCGCGTTCAgg	0.751000													4	44					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184828	19184828	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr7:19184828C>A	ENST00000275461.3	-	1	216	c.158G>T	c.(157-159)aGg>aTg	p.R53M	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	53					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCGCGCCATCCTCCTGGGTCT	0.662000													19	41					1.56452e-12	2.06908e-12	1	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794911	140794911	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr5:140794911G>T	ENST00000398610.2	+	1	2169	c.2169G>T	c.(2167-2169)tgG>tgT	p.W723C	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGCGCTGGCACAAGTCAC	0.657000													51	132					2.52991e-16	3.60733e-16	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142718914	142718914	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:142718914C>A	ENST00000381779.4	-	2	236	c.11G>T	c.(10-12)tGg>tTg	p.W4L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.W4L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.W4L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	4						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAAACAGCCACAGAAACAT	0.348000													14	28					1.5842e-08	1.94441e-08	1	1	0
THUMPD2	80745	broad.mit.edu	37	2	39998659	39998659	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:39998659G>T	ENST00000505747.1	-	2	275	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.S53Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.S53Y	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	83							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ACTTACAGAAGAAATAATAAG	0.303000													14	27					0.0202918	0.0206828	1	1	0
MARK1	4139	broad.mit.edu	37	1	220791826	220791827	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr1:220791826_220791827insA	ENST00000402574.1	+	8	1324_1325	c.322_323insA	c.(322-324)gggfs	p.G108fs	MARK1_ENST00000366918.4_Frame_Shift_Ins_p.G221fs|MARK1_ENST00000366917.4_Frame_Shift_Ins_p.G243fs	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	243	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGTGTGGAGTCTGGGCGTCATT	0.441													25	76	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													4	6	---	---	---	---					
ITPR3	3710	broad.mit.edu	37	6	33652436	33652436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:33652436delG	ENST00000374316.5	+	39	6168	c.5108delG	c.(5107-5109)cgfs	p.R1703fs	ITPR3_ENST00000605930.1_Frame_Shift_Del_p.R1703fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1703					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						TCCACCTCGCGGGGGGACCTT	0.637													15	92	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129498855	129498855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr6:129498855delG	ENST00000421865.2	+	10	1360	c.1311delG	c.(1309-1311)ttfs	p.L437fs		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	437	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTTAGGTTTGGCACCTGGAT	0.408													22	43	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													3	4	---	---	---	---					
RBMXL2	27288	broad.mit.edu	37	11	7111259	7111260	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr11:7111259_7111260delGA	ENST00000306904.5	+	1	1095_1096	c.908_909delGA	c.(907-909)gfs	p.G306fs		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	306	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATCTTACGGAGGAGGAGGCC	0.658													11	26	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52913872	52913872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:52913872delC	ENST00000252242.4	-	1	599	c.209delG	c.(208-210)gcfs	p.G70fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	70	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCTTGGAGCCCCCCAGGTT	0.642													35	85	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78444896	78444896	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr12:78444896delA	ENST00000397909.2	+	11	2658	c.2485delA	c.(2485-2487)aafs	p.K829fs	NAV3_ENST00000266692.7_Frame_Shift_Del_p.K829fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.K829fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.K829fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	829						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATCCTTGGGAAAAGTCTCAG	0.458										HNSCC(70;0.22)			26	54	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138372	20138372	+	RNA	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:20138372delG	ENST00000548261.1	+	0	391																											TGAAACAaaagaaagaaagaa	0.398													7	9	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350948	101350949	+	Frame_Shift_Ins	INS	-	-	G			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr14:101350948_101350949insG	ENST00000534062.1	-	1	235_236	c.177_178insC	c.(175-180)ccgtggfs	p.W60fs		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	60										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGTGGGCCACTGGGGGGCTCCT	0.629													11	40	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25453304	25453304	+	RNA	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:25453304delG	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1																						GGATTACGCTGAGGCCCAACC	0.527													91	107	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65688368	65688368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr15:65688368delG	ENST00000352385.2	-	7	1340	c.1131delC	c.(1129-1131)ccfs	p.P377fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	377	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCGCCCGTTGGGCCGCAGCG	0.736													2	4	---	---	---	---					
PKD1	5310	broad.mit.edu	37	16	2155980	2155980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:2155980delC	ENST00000262304.4	-	20	7957	c.7749delG	c.(7747-7749)ggfs	p.G2583fs	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Frame_Shift_Del_p.G2583fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2583	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						AGACTGTGAGCCCCGTTGCGC	0.682													18	43	---	---	---	---					
IGHV3OR16-13	100287372	broad.mit.edu	37	16	33630060	33630060	+	RNA	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr16:33630060delG	ENST00000562905.2	+	0	285																											ACAATGCTAAGAACACGCTGT	0.493													69	209	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7574030	7574030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:7574030delG	ENST00000269305.4	-	10	1186	c.997delC	c.(997-999)gtfs	p.R333fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R333fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	333	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.R333fs*12(3)|p.I332fs*5(1)|p.?(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)		TCACGCCCACGGATCTGCAGC	0.512		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	6	---	---	---	---					
KCNJ12	3768	broad.mit.edu	37	17	21319827	21319827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr17:21319827delG	ENST00000583088.1	+	3	2068	c.1173delG	c.(1171-1173)gafs	p.E391fs	KCNJ12_ENST00000331718.5_Frame_Shift_Del_p.E391fs	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGGAGGATGAGGCGGACGGAG	0.652										Prostate(3;0.18)			7	126	---	---	---	---					
CPT1C	126129	broad.mit.edu	37	19	50209658	50209658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr19:50209658delG	ENST00000392518.4	+	12	1703	c.1331delG	c.(1330-1332)cgfs	p.R444fs	CPT1C_ENST00000405931.2_Frame_Shift_Del_p.R433fs|CPT1C_ENST00000323446.5_Frame_Shift_Del_p.R444fs|CPT1C_ENST00000354199.5_Frame_Shift_Del_p.R444fs|CPT1C_ENST00000598293.1_Frame_Shift_Del_p.R444fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	444					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			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)		CTGGCCGGCCGGGGCCATGAT	0.642													2	4	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61834884	61834884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chr20:61834884delC	ENST00000370339.3	-	4	749	c.408delG	c.(406-408)ggfs	p.G136fs	YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.G86fs|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	136										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACCTTGAGACCCACTTGTCC	0.587													13	44	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37026739	37026739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:37026739delC	ENST00000358047.3	+	1	308	c.256delC	c.(256-258)ccfs	p.P86fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	86										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCAGAGGTCCCCAAGCTGA	0.542													43	110	---	---	---	---					
ITIH6	347365	broad.mit.edu	37	X	54784317	54784317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:54784317delG	ENST00000218436.6	-	8	2219	c.2190delC	c.(2188-2190)ccfs	p.P730fs		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	730					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAGAATTTGAGGGCACAAGAA	0.502													57	114	---	---	---	---					
TMEM255A	55026	broad.mit.edu	37	X	119425146	119425146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-A4M0-01A-11D-A24P-08	TCGA-97-A4M0-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58122437-27d5-4b5f-b079-159eac81cac7	d1116b23-9441-41d1-b7d3-c5422e84f023	g.chrX:119425146delC	ENST00000371369.4	-	4	540	c.314delG	c.(313-315)ttfs	p.C106fs	TMEM255A_ENST00000440464.1_Frame_Shift_Del_p.C106fs|TMEM255A_ENST00000309720.5_Frame_Shift_Del_p.C106fs	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		TATGGCACAACAAAAAGCCGC	0.453													9	23	---	---	---	---					
