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
ASPSCR1	79058	broad.mit.edu	37	17	79954353	79954353	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:79954353A>G	ENST00000306729.7	+	7	661	c.564A>G	c.(562-564)tcA>tcG	p.S188S	ASPSCR1_ENST00000580534.1_Silent_p.S111S|ASPSCR1_ENST00000306739.4_Silent_p.S188S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	188							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGGCTCGTCAGCGTCGGCTG	0.657000			T	TFE3	alveolar soft part sarcoma								18	29					0	0	0.00074312	0	0
KANK4	163782	broad.mit.edu	37	1	62739384	62739384	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:62739384C>T	ENST00000371153.4	-	3	1770	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	464										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCTCTGATTCCCTTGTTTAT	0.567000													49	62					0	0	0.000781405	0	0
SNX20	124460	broad.mit.edu	37	16	50707821	50707821	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:50707821G>A	ENST00000330943.4	-	4	618	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	149	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCCTCAGCGAAGTTCCCAG	0.617000													19	19					0	0	0.00188189	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444536	49444536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:49444536C>T	ENST00000374201.3	-	9	1284	c.982G>A	c.(982-984)Gga>Aga	p.G328R	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G304R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G297R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	328					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACAACCGATCCCGGCAGATGT	0.552000													27	36					0	0	0.000491102	0	0
NGEF	25791	broad.mit.edu	37	2	233748746	233748746	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:233748746C>T	ENST00000264051.3	-	11	1824	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	NGEF_ENST00000373552.4_Missense_Mutation_p.E424K|NGEF_ENST00000539537.1_Missense_Mutation_p.E239K	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	516	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		AGGTAAATTTCGTGGAAGAGC	0.612000													11	17					0	0	0.00185496	0	0
INTS3	65123	broad.mit.edu	37	1	153723710	153723710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:153723710G>A	ENST00000456435.1	+	7	1292	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	INTS3_ENST00000512605.1_Missense_Mutation_p.E36K|INTS3_ENST00000435409.2_Missense_Mutation_p.E242K|INTS3_ENST00000476843.1_3'UTR|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.E242K			Q68E01	INT3_HUMAN	integrator complex subunit 3	243					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTGCTTCGGGAACGGGTGAG	0.517000													32	33					0	0	0.00128727	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458637	90458637	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:90458637A>G	ENST00000603238.1	+	2	313	c.313A>G	c.(313-315)Act>Gct	p.105_105insA																								AGATTTTGCAACTTATTACTG	0.512000													8	478					0	0	0.00152264	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708300	126708300	+	Missense_Mutation	SNP	C	C	G	rs139269120		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:126708300C>G	ENST00000251772.4	+	1	864	c.795C>G	c.(793-795)gaC>gaG	p.D265E	PLXNA1_ENST00000393409.2_Missense_Mutation_p.D288E			Q9UIW2	PLXA1_HUMAN	plexin A1	288	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCTGTGTGGACGACCCCAAAT	0.617000													63	100					0	0	0.000781405	0	0
ANO3	63982	broad.mit.edu	37	11	26681885	26681885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:26681885G>A	ENST00000256737.3	+	27	3692	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	ANO3_ENST00000525139.1_Missense_Mutation_p.R931Q|ANO3_ENST00000531568.1_Missense_Mutation_p.R801Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R931Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	947						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GACCGAATACGACGAGAGAAG	0.413000													19	3					0	0	0.00074312	0	0
RYR2	6262	broad.mit.edu	37	1	237774182	237774182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:237774182C>T	ENST00000366574.2	+	36	5121	c.4804C>T	c.(4804-4806)Cag>Tag	p.Q1602*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q1586*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q1600*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1602	4 X approximate repeats.				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)			AATGCCCAACCAGTTTTTGAA	0.537000													16	7					0	0	0.000566183	0	0
ZNF831	128611	broad.mit.edu	37	20	57769222	57769222	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:57769222G>A	ENST00000371030.2	+	1	3148	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1050						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCTCCCAGGGAGGCTACCTC	0.637000													6	5					0	0	0.00116845	0	0
DEFB119	245932	broad.mit.edu	37	20	29976959	29976959	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:29976959G>A	ENST00000376315.2	-	2	135	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458000													50	64					0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207550	193207550	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:193207550G>A	ENST00000342695.4	-	7	1029	c.707C>T	c.(706-708)tCc>tTc	p.S236F	ATP13A4_ENST00000295548.3_Missense_Mutation_p.S236F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S236F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	236					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAAGATATGGAAATTATGGA	0.294000													44	92					0	0	0.000781405	0	0
LAMP5	24141	broad.mit.edu	37	20	9496978	9496978	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:9496978G>A	ENST00000246070.2	+	4	937	c.445G>A	c.(445-447)Gag>Aag	p.E149K	LAMP5_ENST00000427562.2_Missense_Mutation_p.E105K	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	149						integral to membrane											CGACTCCTCGGAGAAAACCCA	0.577000													29	43					0	0	0.00127121	0	0
FOXG1	2290	broad.mit.edu	37	14	29237249	29237249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:29237249G>A	ENST00000382535.3	+	2	1133	c.764G>A	c.(763-765)tGg>tAg	p.W255*	FOXG1_ENST00000313071.4_Nonsense_Mutation_p.W255*			P55316	FOXG1_HUMAN	forkhead box G1	255					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAACTACTGGATGCTGGAC	0.657000													11	24					0	0	0.000978159	0	0
DDX17	10521	broad.mit.edu	37	22	38884057	38884057	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38884057T>C	ENST00000396821.3	-	12	1610	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	DDX17_ENST00000381633.3_Missense_Mutation_p.H427R|DDX17_ENST00000444597.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	425					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCCAATACGGTGCACATAATC	0.478000													33	54					0	0	0.000409698	0	0
ILDR1	286676	broad.mit.edu	37	3	121707255	121707255	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:121707255C>T	ENST00000273691.3	-	7	1573	c.1467_splice	c.e7-1	p.E490_splice	ILDR1_ENST00000344209.5_Splice_Site_p.E534_splice|ILDR1_ENST00000393631.1_Splice_Site_p.E445_splice|ILDR1_ENST00000462014.1_Splice_Site_p.E502_splice	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	534						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTGTCTTTCTCCTGGGAAATA	0.433000													7	18					0	0	0.000673444	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552419	21552419	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:21552419C>A	ENST00000281523.2	-	4	891	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	125						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTGCGCTGTCCTTGGCAGTT	0.463000													25	27					3.01185e-09	1.91831e-08	0.000586117	1	0
TAOK1	57551	broad.mit.edu	37	17	27809280	27809280	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:27809280C>T	ENST00000261716.3	+	8	1148	c.629C>T	c.(628-630)tCt>tTt	p.S210F	TAOK1_ENST00000536202.1_Missense_Mutation_p.S210F	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	210	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GATGTGTGGTCTCTTGGAATA	0.318000													48	81					0	0	0.000781405	0	0
KIF21B	23046	broad.mit.edu	37	1	200969524	200969524	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:200969524C>T	ENST00000332129.2	-	11	1995	c.1679G>A	c.(1678-1680)aGg>aAg	p.R560K	KIF21B_ENST00000360529.5_Missense_Mutation_p.R560K|KIF21B_ENST00000422435.2_Missense_Mutation_p.R560K|KIF21B_ENST00000461742.2_Missense_Mutation_p.R560K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	560					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTCTTCCTCCGCTGCCT	0.662000													41	105					0	0	0.000781405	0	0
PAK7	57144	broad.mit.edu	37	20	9561479	9561479	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:9561479C>T	ENST00000378429.3	-	5	849	c.303G>A	c.(301-303)agG>agA	p.R101R	PAK7_ENST00000353224.5_Silent_p.R101R|PAK7_ENST00000378423.1_Silent_p.R101R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	101	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTTTCTTTCCTTAGGGAGT	0.532000													33	51					0	0	0.00178596	0	0
BCCIP	56647	broad.mit.edu	37	10	127520013	127520013	+	Nonsense_Mutation	SNP	C	C	T	rs141189146		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:127520013C>T	ENST00000299130.3	+	5	448	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	BCCIP_ENST00000429863.2_Nonsense_Mutation_p.Q116*|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.Q146*|BCCIP_ENST00000278100.6_Nonsense_Mutation_p.Q146*	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	146	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAACAAATTCAAGAGTTGGT	0.423000													26	38					0	0	0.001512	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941080	153941080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:153941080G>A	ENST00000368607.3	+	2	345	c.79G>A	c.(79-81)Gag>Aag	p.E27K	CREB3L4_ENST00000368601.1_Missense_Mutation_p.E27K|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E27K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E27K|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E27K|CREB3L4_ENST00000405694.3_5'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	27					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCCGTCCTGGAGCTGGGACT	0.622000													31	65					0	0	0.000339439	0	0
OR14J1	442191	broad.mit.edu	37	6	29275391	29275391	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29275391C>T	ENST00000377160.2	+	1	989	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GGAAGAGCTTCCTCAGAGAAA	0.388000													33	26					0	0	0.000339439	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178749	57178749	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:57178749G>A	ENST00000554643.1	+	5	1034	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	HSD17B6_ENST00000322165.1_Missense_Mutation_p.E229K|HSD17B6_ENST00000555805.1_Missense_Mutation_p.E229K|HSD17B6_ENST00000555159.1_Missense_Mutation_p.E229K|HSD17B6_ENST00000554150.1_Missense_Mutation_p.E229K			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	229					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AAGTTGGAAAGAAGCCCCCAA	0.423000													85	14					0	0	0.000781405	0	0
MYLK	4638	broad.mit.edu	37	3	123512611	123512611	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:123512611G>A	ENST00000360772.3	-	5	456	c.78C>T	c.(76-78)tcC>tcT	p.S26S	MYLK_ENST00000475616.1_Silent_p.S26S|MYLK_ENST00000360304.3_Silent_p.S26S|MYLK_ENST00000346322.5_Silent_p.S26S|MYLK_ENST00000359169.1_Silent_p.S26S			Q15746	MYLK_HUMAN	myosin light chain kinase	26					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAGGGGCATGGAGTCAACTC	0.547000													22	23					0	0	0.00188189	0	0
OR14I1	401994	broad.mit.edu	37	1	248845270	248845270	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248845270G>A	ENST00000342623.3	-	1	359	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGACAGTAAGGAAGGCCAGCT	0.507000													24	20					0	0	0.000375601	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040432	103040432	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:103040432G>A	ENST00000264260.2	+	4	821	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	78					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGTAGTAACGACCTATCTGA	0.438000													8	9					0	0	0.000274275	0	0
MGAM	8972	broad.mit.edu	37	7	141740634	141740634	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:141740634C>T	ENST00000475668.2	+	21	2540	c.2486C>T	c.(2485-2487)aCc>aTc	p.T829I	MGAM_ENST00000549489.2_Missense_Mutation_p.T829I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	829	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)	CCAAATACAACCACTCTGGCC	0.463000													5	9					0	0	0.000157383	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220638	50220638	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:50220638G>A	ENST00000002829.3	+	11	1522	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	SEMA3F_ENST00000413852.1_Silent_p.Q247Q|SEMA3F_ENST00000434342.1_Silent_p.Q315Q	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	346	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTGTCCAGCAGACCCAGGACG	0.662000													24	23					0	0	0.000878237	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31982865	31982865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:31982865G>A	ENST00000357886.4	-	3	515	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S121F|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.S31F|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S121F|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S121F|CDK5RAP1_ENST00000473997.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	121	CDK5 activation inhibition.|MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGTAAGATGGACCAGGCTAT	0.493000													54	79					0	0	0.000781405	0	0
SP6	80320	broad.mit.edu	37	17	45924965	45924965	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:45924965C>G	ENST00000536300.1	-	2	1162	c.831G>C	c.(829-831)tgG>tgC	p.W277C	SP6_ENST00000342234.2_Missense_Mutation_p.W277C	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CGCCGCTGTGCCAGCGCAGGT	0.662000													18	19					0	0	0.00074312	0	0
C5orf30	90355	broad.mit.edu	37	5	102612106	102612106	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:102612106G>A	ENST00000319933.2	+	3	794	c.486G>A	c.(484-486)agG>agA	p.R162R	C5orf30_ENST00000515669.1_Silent_p.R162R|C5orf30_ENST00000510890.1_Silent_p.R162R	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	162										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AAGGTAAGAGGGCTCACTCCA	0.468000													20	21					0	0	0.000295444	0	0
GRM7	2917	broad.mit.edu	37	3	7620125	7620125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:7620125G>A	ENST00000486284.1	+	8	1806	c.1532G>A	c.(1531-1533)tGg>tAg	p.W511*	GRM7_ENST00000389336.4_Nonsense_Mutation_p.W511*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.W511*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.W511*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.W511*|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	511					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACATGCAGTGGGGTAAAGGA	0.448000													4	11					0	0	0.00024832	0	0
OR6K6	128371	broad.mit.edu	37	1	158725383	158725383	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158725383G>A	ENST00000368144.2	+	1	874	c.778G>A	c.(778-780)Ggt>Agt	p.G260S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTCAGCTGAAGGTCATCACAA	0.473000													34	74					0	0	0.000953801	0	0
POLA2	23649	broad.mit.edu	37	11	65046372	65046372	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:65046372G>A	ENST00000265465.3	+	6	1164	c.633G>A	c.(631-633)caG>caA	p.Q211Q	POLA2_ENST00000541089.1_Silent_p.Q3Q	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	211					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	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCATGTTTCAGAAGCTCCCAG	0.468000													39	55					0	0	0.00148497	0	0
CELF4	56853	broad.mit.edu	37	18	34850794	34850794	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:34850794G>A	ENST00000420428.2	-	8	1431	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	CELF4_ENST00000361795.5_Missense_Mutation_p.P344S|CELF4_ENST00000601019.1_Missense_Mutation_p.P344S|CELF4_ENST00000591287.1_Missense_Mutation_p.P345S|CELF4_ENST00000603232.1_Missense_Mutation_p.P345S|CELF4_ENST00000588597.1_Missense_Mutation_p.P335S|CELF4_ENST00000591282.1_Missense_Mutation_p.P346S|CELF4_ENST00000412753.1_Missense_Mutation_p.P345S|CELF4_ENST00000334919.5_Missense_Mutation_p.P336S	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	346					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TTGGCCTGTGGGGGGAGGCCG	0.612000													13	37					0	0	0.000219431	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644185	45644185	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:45644185G>A	ENST00000427229.2	+	0	356																											ACTCCTGAAGGAAACTTTACT	0.398000													19	47					0	0	0.00121646	0	0
KCNH2	3757	broad.mit.edu	37	7	150648096	150648096	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:150648096G>A	ENST00000392968.2	-	6	2890	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	KCNH2_ENST00000330883.4_Silent_p.F346F|KCNH2_ENST00000262186.5_Silent_p.F686F|KCNH2_ENST00000430723.3_Silent_p.F686F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	686					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGATCTGGTGGAAGCGGATGA	0.632000													16	21					0	0	0.000308642	0	0
MPP7	143098	broad.mit.edu	37	10	28409259	28409259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:28409259C>T	ENST00000337532.5	-	11	1027	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	MPP7_ENST00000375719.3_Missense_Mutation_p.E251K|MPP7_ENST00000375732.1_Missense_Mutation_p.E251K|MPP7_ENST00000540098.1_Missense_Mutation_p.E251K|MPP7_ENST00000445954.2_Missense_Mutation_p.E126K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	251	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGCCCAGCTTCCTTACATGGA	0.383000													18	44					0	0	0.00152264	0	0
F13B	2165	broad.mit.edu	37	1	197029611	197029611	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:197029611G>A	ENST00000367412.1	-	5	733	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	230	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTTCATAGGTTTGCTTTA	0.284000													15	12					0	0	0.000219431	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986374	51986374	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:51986374C>T	ENST00000396477.4	+	4	798	c.777C>T	c.(775-777)tcC>tcT	p.S259S	CEACAM18_ENST00000451626.1_Silent_p.S320S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	320						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTGCTATTCCTTCCTGGATC	0.522000													63	75					0	0	0.000781405	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299736	107299736	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:107299736G>A	ENST00000282251.5	-	8	1249	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	CWF19L2_ENST00000433523.1_Missense_Mutation_p.P408S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	408							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTCTTGGTGGGTTTTCTAAAA	0.418000													30	11					0	0	0.000339439	0	0
ANXA9	8416	broad.mit.edu	37	1	150955615	150955615	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:150955615C>T	ENST00000368947.4	+	3	510	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	ANXA9_ENST00000474997.1_Intron	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	12					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCACCGTCCCTCACCCAGGA	0.582000													45	33					0	0	0.000781405	0	0
GPR6	2830	broad.mit.edu	37	6	110300401	110300401	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:110300401G>A	ENST00000414000.2	+	3	370	c.131G>A	c.(130-132)gGg>gAg	p.G44E	GPR6_ENST00000275169.3_Missense_Mutation_p.G29E			P46095	GPR6_HUMAN	G protein-coupled receptor 6	29						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)		acagcagcaggggggccggAC	0.721000													24	1					0	0	0.00047179	0	0
LAMA1	284217	broad.mit.edu	37	18	7024406	7024406	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:7024406G>T	ENST00000389658.3	-	18	2555	c.2462C>A	c.(2461-2463)cCg>cAg	p.P821Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	821	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGTAGCCCGGGGCACACCA	0.418000													21	27					3.08376e-08	1.95987e-07	0.00047179	1	0
L1TD1	54596	broad.mit.edu	37	1	62675517	62675517	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:62675517C>T	ENST00000498273.1	+	4	1366	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	357										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTTGAGCTTCCTATTTCTTA	0.378000													64	97					0	0	0.000781405	0	0
CMA1	1215	broad.mit.edu	37	14	24976598	24976598	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:24976598C>T	ENST00000250378.3	-	2	202	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	58	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CACAAAGTTCCGTCTTATAAG	0.478000													35	36					0	0	0.00195071	0	0
MCTP2	55784	broad.mit.edu	37	15	94882563	94882563	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:94882563C>T	ENST00000357742.4	+	4	682	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.L228L|MCTP2_ENST00000451018.3_Silent_p.L228L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	228	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGGAAGACGCTGTACAAAAG	0.358000													54	70					0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	100141950	100141950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:100141950G>A	ENST00000524871.1	+	18	2581	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R764Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R690Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.R764Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.R764Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	764	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCCATCTCGAATGATCCGC	0.448000													12	17					0	0	0.000978159	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216071	140216071	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140216071C>T	ENST00000525929.1	+	1	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.I701I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.627000													38	39					0	0	0.000781405	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615468	70615468	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:70615468G>A	ENST00000310613.2	-	4	643	c.346C>T	c.(346-348)Cct>Tct	p.P116S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	116					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAAGATTTAGGAAGAAGATCA	0.368000													27	66					0	0	0.00058488	0	0
TENM2	57451	broad.mit.edu	37	5	167674492	167674492	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:167674492G>A	ENST00000519204.1	+	26	6303	c.6185G>A	c.(6184-6186)gGc>gAc	p.G2062D	TENM2_ENST00000403607.2_Missense_Mutation_p.G2007D|TENM2_ENST00000520394.1_Missense_Mutation_p.G1944D|TENM2_ENST00000518659.1_Missense_Mutation_p.G2183D|TENM2_ENST00000545108.1_Missense_Mutation_p.G2182D					teneurin transmembrane protein 2																		GACAGCATGGGCAGGGTGATC	0.557000													12	23					0	0	0.000978159	0	0
DCAF11	80344	broad.mit.edu	37	14	24587638	24587638	+	Missense_Mutation	SNP	C	C	T	rs151306695	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:24587638C>T	ENST00000446197.3	+	7	1346	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.R181C|DCAF11_ENST00000396936.1_Missense_Mutation_p.R107C|DCAF11_ENST00000559115.1_Missense_Mutation_p.R207C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	207			R -> H (in dbSNP:rs3825584).			CUL4 RING ubiquitin ligase complex	protein binding										TGGCCGTTTCCGTAAATTCAA	0.488000													69	69					0	0	0.000781405	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438604	37438604	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:37438604C>T	ENST00000374660.1	+	10	1500	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ANKRD30A_ENST00000602533.1_Silent_p.F467F|ANKRD30A_ENST00000361713.1_Silent_p.F467F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	523						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCAAGGTATTTA	0.299000													30	37					0	0	0.000409698	0	0
CPXM2	119587	broad.mit.edu	37	10	125639769	125639769	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:125639769C>T	ENST00000241305.3	-	2	515	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	121					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGTGATCATCGTTGGCAGCC	0.507000													69	99					0	0	0.000781405	0	0
KLHL13	90293	broad.mit.edu	37	X	117043976	117043976	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:117043976G>A	ENST00000371876.1	-	4	2922	c.501C>T	c.(499-501)ttC>ttT	p.F167F	KLHL13_ENST00000545703.1_Silent_p.F176F|KLHL13_ENST00000541812.1_Silent_p.F202F|KLHL13_ENST00000540167.1_Silent_p.F202F|KLHL13_ENST00000262820.3_Silent_p.F218F|KLHL13_ENST00000539496.1_Silent_p.F221F|KLHL13_ENST00000371878.1_Silent_p.F167F|KLHL13_ENST00000371882.1_Silent_p.F167F|KLHL13_ENST00000469946.1_Silent_p.F167F			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	218					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTTCAAGACGAAACTGTTAA	0.418000													25	5					0	0	0.00047179	0	0
SORBS2	8470	broad.mit.edu	37	4	186545620	186545620	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:186545620G>A	ENST00000431808.1	-	14	1514	c.951C>T	c.(949-951)tcC>tcT	p.S317S	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.S417S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.S317S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.S221S|SORBS2_ENST00000449407.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	317						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AACTGCAAAGGGATGGACATA	0.478000													29	39					0	0	0.000409698	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765453	18765453	+	Silent	SNP	C	C	T	rs151116969		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:18765453C>T	ENST00000304081.4	-	5	892	c.792G>A	c.(790-792)agG>agA	p.R264R	NT5C1B_ENST00000600945.1_Silent_p.R324R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R324R|NT5C1B_ENST00000359846.2_Silent_p.R324R	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB									p.R324R(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGTAGATTTTCCTGCCGTCCA	0.562000													54	69					0	0	0.000781405	0	0
GPR179	440435	broad.mit.edu	37	17	36485008	36485008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:36485008C>T	ENST00000342292.4	-	11	4464	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1482						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCATCCAGCTCCCAGGGACAG	0.512000													70	72					0	0	0.000781405	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518410	161518410	+	Silent	SNP	C	C	T	rs147185130	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:161518410C>T	ENST00000367969.3	-	3	411	c.228G>A	c.(226-228)aaG>aaA	p.K76K	FCGR3A_ENST00000443193.1_Silent_p.K75K|FCGR3A_ENST00000436743.1_Silent_p.K40K|FCGR3A_ENST00000540048.1_Silent_p.K40K|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	40	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACACTGTCCTTCTCGAGCA	0.552000													56	124					0	0	0.000781405	0	0
LYST	1130	broad.mit.edu	37	1	235860522	235860522	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:235860522G>A	ENST00000389794.3	-	46	10599	c.10425C>T	c.(10423-10425)tcC>tcT	p.S3475S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3475S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3475					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGCACTGGGGGAACCCACGT	0.473000													25	50					0	0	0.000878237	0	0
GLRA3	8001	broad.mit.edu	37	4	175649849	175649849	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:175649849C>T	ENST00000274093.3	-	4	770	c.267_splice	c.e4-1	p.D90_splice	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Splice_Site_p.D90_splice	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	90					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	ACTCTGTAATCCTATGATAAA	0.398000													11	25					0	0	0.00136819	0	0
HEATR2	54919	broad.mit.edu	37	7	780536	780536	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:780536C>T	ENST00000297440.6	+	3	881	c.861C>T	c.(859-861)atC>atT	p.I287I	HEATR2_ENST00000313147.5_Silent_p.I287I|HEATR2_ENST00000438961.1_3'UTR	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	287							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ACAAGCTCATCCCTCTGCTGC	0.637000													53	68					0	0	0.000781405	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404571	52404571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:52404571C>T	ENST00000260442.3	-	1	401	c.353G>A	c.(352-354)tGg>tAg	p.W118*	BCL2L10_ENST00000561198.1_Nonsense_Mutation_p.W118*	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	108					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CCACTTCTTCCACCGGGCGGT	0.711000													6	6					0	0	0.000274275	0	0
MAST4	375449	broad.mit.edu	37	5	66398379	66398379	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:66398379C>T	ENST00000404260.3	+	9	1403	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	MAST4_ENST00000261569.7_Silent_p.P168P|MAST4_ENST00000490016.2_Silent_p.P173P|MAST4_ENST00000405643.1_Silent_p.P183P|MAST4_ENST00000403625.2_Silent_p.P362P|MAST4_ENST00000403666.1_Silent_p.P173P			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	365						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACGTTCTCCCGCCTGCTGTG	0.383000													33	54					0	0	0.00128727	0	0
DDAH1	23576	broad.mit.edu	37	1	85817207	85817207	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:85817207G>A	ENST00000284031.8	-	3	553	c.459C>T	c.(457-459)atC>atT	p.I153I	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Silent_p.I53I|DDAH1_ENST00000535924.2_Silent_p.I50I|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Silent_p.I153I|DDAH1_ENST00000426972.3_Silent_p.I60I|DDAH1_ENST00000483110.1_5'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	153					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TATCAGCCAAGATTTCAGCAC	0.383000													26	44					0	0	0.00178596	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563205	45563205	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:45563205A>G	ENST00000379161.4	-	1	413	c.367T>C	c.(367-369)Tct>Cct	p.S123P	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	123					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CTATCAGAAGACTGTCTCCAA	0.537000													14	25					0	0	0.00074312	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400818	49400818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:49400818G>A	ENST00000374201.3	-	16	2376	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.Q667*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.Q660*	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	692					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCAGCACCCTGAAGCCTGGAT	0.537000													35	37					0	0	0.00128727	0	0
TPO	7173	broad.mit.edu	37	2	1426834	1426834	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:1426834C>T	ENST00000345913.4	+	3	203	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	TPO_ENST00000382269.3_Missense_Mutation_p.R38C|TPO_ENST00000382201.3_Missense_Mutation_p.R38C|TPO_ENST00000337415.3_Missense_Mutation_p.R38C|TPO_ENST00000329066.4_Missense_Mutation_p.R38C|TPO_ENST00000539820.1_Missense_Mutation_p.R38C|TPO_ENST00000382198.1_Missense_Mutation_p.R38C|TPO_ENST00000346956.3_Missense_Mutation_p.R38C|TPO_ENST00000349624.3_Missense_Mutation_p.R38C|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	38					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGAGGAGTCTCGTGTCTCTAG	0.562000													10	26					0	0	0.000442599	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647677	92647677	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:92647677C>T	ENST00000318445.6	+	4	1128	c.914C>T	c.(913-915)tCc>tTc	p.S305F	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S305F|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	305					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCCATGCTCTCCGAAAGAGAA	0.587000													23	27					0	0	0.000295444	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886022	88886022	+	Nonsense_Mutation	SNP	G	G	A	rs148443990	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:88886022G>A	ENST00000319675.3	-	1	274	c.178C>T	c.(178-180)Cag>Tag	p.Q60*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	60								p.Q60*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTATGAATCTGGACCTTTTTC	0.502000													24	41					0	0	0.000586117	0	0
TMEM101	84336	broad.mit.edu	37	17	42089457	42089457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:42089457G>A	ENST00000589334.1	-	5	928	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	TMEM101_ENST00000206380.3_Nonsense_Mutation_p.Q205*|TMEM101_ENST00000542039.1_Nonsense_Mutation_p.Q147*			Q96IK0	TM101_HUMAN	transmembrane protein 101	205					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCAGGATCTGGGCAGCGAGG	0.567000													22	30					0	0	0.000375601	0	0
DAPK3	1613	broad.mit.edu	37	19	3961032	3961032	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:3961032G>A	ENST00000545797.2	-	7	1000	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R253C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	253	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGCCGGCGAATGAAGTCC	0.622000													21	35					0	0	0.000720815	0	0
ERC2	26059	broad.mit.edu	37	3	56468558	56468558	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:56468558C>T	ENST00000288221.6	-	2	733	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	160						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGGTCATTCTCTCTCTGCAGT	0.483000													80	100					0	0	0.000781405	0	0
RAB27B	5874	broad.mit.edu	37	18	52556538	52556538	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:52556538G>A	ENST00000262094.5	+	6	1072	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	184					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.R184Q(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		ATCATGAAGCGAATGGAACAG	0.418000													7	12					0	0	0.000157383	0	0
ZNF83	55769	broad.mit.edu	37	19	53117670	53117670	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53117670T>A	ENST00000597597.1	-	2	2401	c.148A>T	c.(148-150)Agt>Tgt	p.S50C	ZNF83_ENST00000544146.1_Missense_Mutation_p.S50C|ZNF83_ENST00000541777.2_Missense_Mutation_p.S50C|ZNF83_ENST00000391789.4_Missense_Mutation_p.S50C|ZNF83_ENST00000536937.1_Missense_Mutation_p.S50C|ZNF83_ENST00000545872.1_Missense_Mutation_p.S50C|ZNF83_ENST00000301096.3_Missense_Mutation_p.S50C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	50						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACTAAGGAACTACTGTTGACA	0.363000													21	40					0	0	0.00152264	0	0
RP1	6101	broad.mit.edu	37	8	55541975	55541975	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:55541975G>A	ENST00000220676.1	+	4	5681	c.5533G>A	c.(5533-5535)Gaa>Aaa	p.E1845K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1845					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGTGCCAAGGAAAGAATAGC	0.403000													17	19					0	0	0.000566183	0	0
C7	730	broad.mit.edu	37	5	40979906	40979906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:40979906C>T	ENST00000313164.9	+	17	2604	c.2245C>T	c.(2245-2247)Cac>Tac	p.H749Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	749	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCATGTTCTCCACTGTCAGGG	0.468000													20	27					0	0	0.00121646	0	0
RELL2	285613	broad.mit.edu	37	5	141019704	141019704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:141019704G>T	ENST00000297164.3	+	5	1921	c.721G>T	c.(721-723)Gga>Tga	p.G241*	FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518856.1_Nonsense_Mutation_p.G175*|RELL2_ENST00000521367.1_Nonsense_Mutation_p.G175*|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Nonsense_Mutation_p.G241*|FCHSD1_ENST00000435817.2_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	241						integral to membrane|plasma membrane		p.G241*(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAATGGAGGACTCAGGGA	0.667000													11	16					3.07112e-06	1.94482e-05	0.000978159	1	0
PRPF18	8559	broad.mit.edu	37	10	13656021	13656021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:13656021C>T	ENST00000378572.3	+	8	887	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	243					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TCAGAATCTTCCTGCTGATAT	0.279000													16	21					0	0	0.000308642	0	0
FMNL1	752	broad.mit.edu	37	17	43321209	43321209	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:43321209C>T	ENST00000331495.3	+	18	2601	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	FMNL1_ENST00000587489.1_Silent_p.F333F|FMNL1_ENST00000328118.3_Silent_p.F755F	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	755	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGATGCGCTTCCTGCCCACAG	0.602000													17	12					0	0	0.00121646	0	0
LIPF	8513	broad.mit.edu	37	10	90427426	90427426	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:90427426A>T	ENST00000394375.3	+	4	349	c.236A>T	c.(235-237)aAa>aTa	p.K79I	LIPF_ENST00000355843.2_Missense_Mutation_p.K69I|LIPF_ENST00000238983.4_Missense_Mutation_p.K69I	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	69					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TATGGGAAGAAAAATTCAGGG	0.353000													52	65					0	0	0.000781405	0	0
UNC79	57578	broad.mit.edu	37	14	94084570	94084570	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:94084570C>T	ENST00000553484.1	+	30	4477	c.4323C>T	c.(4321-4323)atC>atT	p.I1441I	UNC79_ENST00000393151.2_Silent_p.I1419I|UNC79_ENST00000555664.1_Silent_p.I1419I|UNC79_ENST00000256339.4_Silent_p.I1242I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1419						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGCAAGATCCTGCTGCATC	0.438000													31	25					0	0	0.000814825	0	0
BCMO1	53630	broad.mit.edu	37	16	81323952	81323952	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:81323952G>A	ENST00000258168.2	+	11	1875		c.e11-1		BCMO1_ENST00000425577.2_Splice_Site	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1						retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TTTCCCTAAAGGAGTAATCTT	0.438000													28	13					0	0	0.000409698	0	0
CACNA1E	777	broad.mit.edu	37	1	181750643	181750643	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:181750643C>T	ENST00000526775.1	+	38	5456	c.5291C>T	c.(5290-5292)tCc>tTc	p.S1764F	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1734F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1783F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1390F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1764F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S1783F|CACNA1E_ENST00000358338.5_Intron	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1783	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGATGTCCCTCCAAAGTGGCA	0.532000													7	5					0	0	0.000442599	0	0
OR7G2	390882	broad.mit.edu	37	19	9213580	9213580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9213580G>A	ENST00000305456.2	-	1	402	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCTGCAAGGAGACAATTTTCC	0.507000													26	28					0	0	0.000720815	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474536	84474536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:84474536C>T	ENST00000416219.2	+	14	1372	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	ATP2C2_ENST00000262429.4_Missense_Mutation_p.S428F|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	428					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						AAGGAATTTTCCAATGTCTCA	0.498000													28	12					0	0	0.001512	0	0
RBM46	166863	broad.mit.edu	37	4	155719262	155719262	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:155719262G>A	ENST00000510397.1	+	3	630	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	RBM46_ENST00000514866.1_Missense_Mutation_p.E151K|RBM46_ENST00000281722.3_Missense_Mutation_p.E151K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	151	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATTCCCAAGGAAAAGAAGAA	0.328000													32	50					0	0	0.00058488	0	0
SLC26A4	5172	broad.mit.edu	37	7	107350632	107350632	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:107350632C>T	ENST00000265715.3	+	19	2447	c.2223C>T	c.(2221-2223)tcC>tcT	p.S741S	SLC26A4_ENST00000544569.1_Silent_p.S328S|SLC26A4_ENST00000543100.1_Silent_p.S310S|SLC26A4_ENST00000541474.1_Silent_p.S302S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	741					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTCAAGGTTCCATTTTAGAAA	0.348000									Pendred syndrome				15	24					0	0	0.000958276	0	0
SCD5	79966	broad.mit.edu	37	4	83557909	83557909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:83557909C>T	ENST00000319540.4	-	4	956	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	213					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGACTCTCTCCCCAGATGTAC	0.532000													13	16					0	0	0.00185496	0	0
KIF26A	26153	broad.mit.edu	37	14	104641757	104641757	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:104641757C>T	ENST00000315264.7	+	11	2593	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	KIF26A_ENST00000423312.2_Missense_Mutation_p.P878S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	878					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGGCCGGAAGCCCTCGCCACC	0.706000													6	4					0	0	8.12818e-05	0	0
IDUA	3425	broad.mit.edu	37	4	995528	995528	+	Silent	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:995528G>T	ENST00000453894.1	+	5	598	c.510G>T	c.(508-510)cgG>cgT	p.R170R	IDUA_ENST00000514224.1_Silent_p.R85R|IDUA_ENST00000247933.4_Silent_p.R217R			P35475	IDUA_HUMAN	iduronidase, alpha-L-	217					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCGCCCTGCGGCTGGGAGGCC	0.711000													6	9					1.06961e-07	6.78808e-07	0.000157383	1	0
MYH7B	57644	broad.mit.edu	37	20	33578807	33578807	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:33578807G>A	ENST00000262873.7	+	22	2284	c.2191_splice	c.e22-1	p.G731_splice		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	689	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCACGTCCAGGGGTCATGGAT	0.607000													16	29					0	0	0.00074312	0	0
NLRP13	126204	broad.mit.edu	37	19	56423233	56423233	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:56423233G>A	ENST00000588751.1	-	5	1974	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	NLRP13_ENST00000342929.3_Silent_p.F650F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	650							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCTTTGTGAAGTCTTCCT	0.423000													32	54					0	0	0.000409698	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858025	101858025	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:101858025T>C	ENST00000604957.1	+	1	3578	c.956T>C	c.(955-957)cTt>cCt	p.L319P	ARMCX5_ENST00000246174.2_Missense_Mutation_p.L319P|ARMCX5_ENST00000537008.1_Missense_Mutation_p.L319P|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.L319P|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.L319P|ARMCX5_ENST00000536530.1_Missense_Mutation_p.L319P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	319							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGCCCTCCTTAAGTTAACT	0.398000													19	2					0	0	0.000958276	0	0
ITGA10	8515	broad.mit.edu	37	1	145532832	145532832	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:145532832T>C	ENST00000369304.3	+	10	1324		c.e10+2		ITGA10_ENST00000539363.1_Splice_Site|ITGA10_ENST00000538811.1_Splice_Site	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10						cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTAAAGGTTGGACAGATT	0.478000													41	103					0	0	0.000680045	0	0
PDE11A	50940	broad.mit.edu	37	2	178534251	178534251	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:178534251C>T	ENST00000286063.5	-	18	2849	c.2532G>A	c.(2530-2532)cgG>cgA	p.R844R	PDE11A_ENST00000389683.3_Silent_p.R400R|PDE11A_ENST00000449286.2_Silent_p.R486R|PDE11A_ENST00000450799.2_Silent_p.R35R|PDE11A_ENST00000358450.4_Silent_p.R594R|PDE11A_ENST00000409504.1_Silent_p.R486R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	844	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTAATCTCTCCCGATCTCCTT	0.353000									Primary Pigmented Nodular Adrenocortical Disease, Familial				29	68					0	0	0.000409698	0	0
TRAC	28755	broad.mit.edu	37	14	23020935	23020935	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:23020935G>A	ENST00000478163.3	+	0	812																											ATGTTGTGAGGGGTTTATTTT	0.468000													11	21					0	0	0.000308642	0	0
SIRT5	23408	broad.mit.edu	37	6	13612059	13612059	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:13612059G>A	ENST00000606117.1	+	10	1191	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	SIRT5_ENST00000397350.2_Missense_Mutation_p.E191K|SIRT5_ENST00000359782.3_Missense_Mutation_p.E281K	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	299	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GACTCTTCCTGAAGCCCTTGC	0.423000													133	340					0	0	0.000781405	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112036	64112036	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64112036G>A	ENST00000356786.5	+	14	2067	c.2023G>A	c.(2023-2025)Gga>Aga	p.G675R	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	675					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGGCCACGGGACAAGCAGA	0.642000													12	5					0	0	0.00136819	0	0
AGFG2	3268	broad.mit.edu	37	7	100162594	100162594	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100162594A>G	ENST00000300176.4	+	12	1548	c.1426A>G	c.(1426-1428)Acc>Gcc	p.T476A	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	476					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAACCTCCAACCACCAACCC	0.532000													75	130					0	0	0.000781405	0	0
UVSSA	57654	broad.mit.edu	37	4	1369270	1369270	+	Silent	SNP	C	C	T	rs143426578		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:1369270C>T	ENST00000389851.4	+	9	1854	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	UVSSA_ENST00000507531.1_Silent_p.D469D|UVSSA_ENST00000512728.1_Silent_p.D20D|UVSSA_ENST00000511563.1_Silent_p.D20D|UVSSA_ENST00000511216.1_Silent_p.D469D	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	469																	AGCTCCGGGACCACTTGCCTC	0.672000													15	34					0	0	0.000422831	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891566	18891566	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:18891566C>T	ENST00000317658.3	+	1	522	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	122					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGTTGTTCTTCTGTGCGCCTT	0.378000													16	2					0	0	0.000566183	0	0
MYOG	4656	broad.mit.edu	37	1	203055032	203055032	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:203055032C>T	ENST00000241651.4	-	1	132	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	20					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						AGGTAGTTTTCCCCATCATAG	0.617000													17	33					0	0	0.00152264	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202936	140202936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140202936G>A	ENST00000529859.1	+	1	1576	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E526K|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E526K|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.692000													45	79					0	0	0.000781405	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189491	50189491	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:50189491G>T	ENST00000284509.6	-	23	2836	c.2695C>A	c.(2695-2697)Cag>Aag	p.Q899K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q899K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	899					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTACCAACCTGGGCTGAGAAA	0.303000													6	70					0.00116845	0.00734654	0.00116845	1	0
GPR112	139378	broad.mit.edu	37	X	135431445	135431445	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:135431445G>A	ENST00000394143.1	+	6	5871	c.5580G>A	c.(5578-5580)atG>atA	p.M1860I	GPR112_ENST00000412101.1_Missense_Mutation_p.M1655I|GPR112_ENST00000394141.1_Missense_Mutation_p.M1655I|GPR112_ENST00000370652.1_Missense_Mutation_p.M1860I|GPR112_ENST00000287534.4_Missense_Mutation_p.M1797I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1860					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)					CATCCCAAATGGTTGAATTTC	0.438000													7	1					0	0	8.12818e-05	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217281010	217281010	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:217281010T>C	ENST00000357276.4	+	4	1172	c.842T>C	c.(841-843)aTg>aCg	p.M281T	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.M281T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	281	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACTTCAGCATGAATGACTAT	0.433000									Schimke Immuno-Osseous Dysplasia				42	55					0	0	0.000781405	0	0
CENPF	1063	broad.mit.edu	37	1	214791977	214791977	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:214791977C>T	ENST00000366955.3	+	4	589	c.421C>T	c.(421-423)Cca>Tca	p.P141S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	141	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCTCTGAATCCATGCAATAC	0.388000													65	64					0	0	0.000781405	0	0
HP	3240	broad.mit.edu	37	16	72094666	72094666	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:72094666G>A	ENST00000355906.5	+	7	1156	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	HP_ENST00000570083.1_Silent_p.E307E|HP_ENST00000398131.2_Silent_p.E307E|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_3'UTR|HP_ENST00000565574.1_Silent_p.E307E	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	366	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTGGAGGAGGACACCTGGT	0.517000													26	53					0	0	0.00106085	0	0
EMR1	2015	broad.mit.edu	37	19	6928251	6928251	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6928251A>G	ENST00000381404.4	+	16	2192	c.2162A>G	c.(2161-2163)aAg>aGg	p.K721R	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000312053.4_Intron|EMR1_ENST00000450315.3_Intron	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	763					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)					AGCCTGGCGAAGTGTGTTCTG	0.493000													17	31					0	0	0.000422831	0	0
GPALPP1	55425	broad.mit.edu	37	13	45594490	45594490	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:45594490C>T	ENST00000361121.2	+	7	766	c.731C>T	c.(730-732)tCc>tTc	p.S244F	KIAA1704_ENST00000357537.3_Missense_Mutation_p.S74F|KIAA1704_ENST00000379151.4_Missense_Mutation_p.S244F|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		244										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		AGGAAGTCATCCAGTAAGAAA	0.299000													63	97					0	0	0.000781405	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390499	61390499	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:61390499G>A	ENST00000544088.1	+	0	1107				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGCAGCAGCAGCCACTGGGGA	0.493000													11	19					0	0	0.000978159	0	0
ZHX2	22882	broad.mit.edu	37	8	123965271	123965271	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:123965271C>T	ENST00000314393.4	+	3	2356	c.1521C>T	c.(1519-1521)gcC>gcT	p.A507A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	507						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AATCCCTTGCCAAAGACCAGT	0.567000													10	15					0	0	0.000442599	0	0
GTSF1	121355	broad.mit.edu	37	12	54856432	54856432	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:54856432C>T	ENST00000552397.1	-	5	1218	c.322G>A	c.(322-324)Gat>Aat	p.D108N	RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D108N|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	108							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCACCTTTATCCCAGTCTTCA	0.423000													147	31					0	0	0.000781405	0	0
GLRA1	2741	broad.mit.edu	37	5	151271933	151271933	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:151271933G>A	ENST00000274576.4	-	2	415	c.123C>T	c.(121-123)ttC>ttT	p.F41F	GLRA1_ENST00000455880.2_Silent_p.F41F|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	41					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCAGGAAATCCGAGG	0.498000													20	27					0	0	0.00152264	0	0
FGGY	55277	broad.mit.edu	37	1	59922748	59922748	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:59922748G>A	ENST00000371218.4	+	6	854	c.670_splice	c.e6+1	p.G224_splice	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Splice_Site_p.G136_splice|FGGY_ENST00000303721.7_Splice_Site_p.G224_splice	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	224					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGCAAAATAGGTAAAAGAAT	0.368000													11	5					0	0	0.000978159	0	0
ADRA1A	148	broad.mit.edu	37	8	26623610	26623610	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:26623610C>T	ENST00000354550.4	-	3	1525	c.1326G>A	c.(1324-1326)gtG>gtA	p.V442V	ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0				S -> C (in Ref. 4; AAA93114).	activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCATAAAATTCACATGCTTGA	0.443000													28	46					0	0	0.00106085	0	0
TEP1	7011	broad.mit.edu	37	14	20873656	20873656	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20873656T>C	ENST00000262715.5	-	4	864	c.824A>G	c.(823-825)gAa>gGa	p.E275G	TEP1_ENST00000556935.1_Missense_Mutation_p.E275G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	275	TROVE.				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)		ACGACAGATTTCAAAAATGGC	0.502000													21	26					0	0	0.00121646	0	0
ACTN3	89	broad.mit.edu	37	11	66323702	66323702	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:66323702G>A	ENST00000513398.1	+	0	901				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GGCTGAGCAGGTAAGGCGGCC	0.597000													21	34					0	0	0.00152264	0	0
GTF3C1	2975	broad.mit.edu	37	16	27519910	27519910	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:27519910A>T	ENST00000356183.4	-	8	1208	c.1193T>A	c.(1192-1194)cTa>cAa	p.L398Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L398Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	398						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTGCTTCTAGTTTTCCCAC	0.468000													39	42					0	0	0.00128727	0	0
MYH7B	57644	broad.mit.edu	37	20	33578806	33578806	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:33578806G>A	ENST00000262873.7	+	22	2283		c.e22-1			NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta							membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTCACGTCCAGGGGTCATGGA	0.602000													16	29					0	0	0.000958276	0	0
TNPO3	23534	broad.mit.edu	37	7	128641228	128641228	+	Missense_Mutation	SNP	G	G	A	rs11538883		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:128641228G>A	ENST00000393245.1	-	6	1130	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	TNPO3_ENST00000471234.1_Missense_Mutation_p.L253F|TNPO3_ENST00000265388.5_Missense_Mutation_p.L253F|TNPO3_ENST00000471166.1_Missense_Mutation_p.L253F|TNPO3_ENST00000482320.1_Missense_Mutation_p.L187F	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	253					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATGGCATAGAGAGCTGAGCAT	0.488000													75	127					0	0	0.000781405	0	0
ASB15	142685	broad.mit.edu	37	7	123268983	123268983	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:123268983T>G	ENST00000451558.1	+	12	1456	c.935T>G	c.(934-936)aTt>aGt	p.I312S	ASB15_ENST00000434204.1_Missense_Mutation_p.I312S|ASB15_ENST00000275699.3_Missense_Mutation_p.I312S|ASB15_ENST00000451215.1_Missense_Mutation_p.I312S|ASB15_ENST00000540573.1_Missense_Mutation_p.I312S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	312					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTAACACCAATTCACTCAGCA	0.383000													18	23					0	0	0.000958276	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857635	140857635	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140857635A>G	ENST00000308177.3	+	1	2056	c.1952A>G	c.(1951-1953)aAt>aGt	p.N651S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAAGACAATGGGGAGCCT	0.577000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	39					0	0	0.000692331	0	0
SEMG2	6407	broad.mit.edu	37	20	43851778	43851778	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:43851778T>C	ENST00000372769.3	+	2	1595	c.1505T>C	c.(1504-1506)gTa>gCa	p.V502A		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	502	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAAAAGCTAGTAGAAGGCAAG	0.398000													10	22					0	0	0.000442599	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472075	52472075	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52472075G>A	ENST00000231721.2	-	14	1649	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	550					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGCTGGGGCGGTAGTGGGTAC	0.672000													9	16					0	0	0.000274275	0	0
SP110	3431	broad.mit.edu	37	2	231077610	231077610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:231077610G>A	ENST00000258381.6	-	4	526	c.449C>T	c.(448-450)tCa>tTa	p.S150L	SP110_ENST00000392048.3_Missense_Mutation_p.S150L|SP110_ENST00000540870.1_Missense_Mutation_p.S156L|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258382.5_Missense_Mutation_p.S150L|SP110_ENST00000358662.4_Missense_Mutation_p.S150L|SP110_ENST00000338556.3_5'UTR	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	150					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CGCACAGGGTGAACAGCTTGG	0.597000													45	60					0	0	0.000781405	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434888	1434888	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:1434888G>A	ENST00000233078.4	+	12	1362	c.1201G>A	c.(1201-1203)Ggg>Agg	p.G401R	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	401					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGTGCAAGGGTTCCACCC	0.677000													5	4					0	0	0.000602214	0	0
CSMD1	64478	broad.mit.edu	37	8	3046477	3046477	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:3046477G>A	ENST00000520002.1	-	36	6013	c.5458C>T	c.(5458-5460)Cct>Tct	p.P1820S	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1819S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1820S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1820S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1819S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1819S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1820S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1820	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATGGCTCAGGGTAGCCGGGG	0.473000													10	11					0	0	0.000442599	0	0
ARPP21	10777	broad.mit.edu	37	3	35763143	35763143	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:35763143A>T	ENST00000187397.4	+	14	1498	c.1042A>T	c.(1042-1044)Agc>Tgc	p.S348C	ARPP21_ENST00000444190.1_Missense_Mutation_p.S294C|ARPP21_ENST00000337271.5_Missense_Mutation_p.S294C|ARPP21_ENST00000458225.1_Missense_Mutation_p.S314C|ARPP21_ENST00000417925.1_Missense_Mutation_p.S314C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	348	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCGACAGAGCAGCTCAGAAAA	0.537000													4	10					0	0	0.000602214	0	0
PLCH1	23007	broad.mit.edu	37	3	155282851	155282851	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:155282851C>T	ENST00000460012.1	-	8	1189	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	PLCH1_ENST00000494598.1_Missense_Mutation_p.E296K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E296K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E278K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E296K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E278K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	296					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGTACACTTCATGGTGCAAT	0.448000													7	24					0	0	0.000274275	0	0
KDM5B	10765	broad.mit.edu	37	1	202702783	202702783	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:202702783G>T	ENST00000367265.3	-	23	4819	c.3655C>A	c.(3655-3657)Ccc>Acc	p.P1219T	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1255T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1219					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGACAATGGGGACAAAGCCAG	0.537000													9	36					0.000274275	0.00172819	0.000274275	1	0
LRG1	116844	broad.mit.edu	37	19	4538831	4538831	+	Silent	SNP	G	G	A	rs138125261	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:4538831G>A	ENST00000306390.6	-	2	625	c.165C>T	c.(163-165)tcC>tcT	p.S55S	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	55						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTTGACAGGAGATGGAGC	0.632000													38	46					0	0	0.00148497	0	0
GP5	2814	broad.mit.edu	37	3	194118498	194118498	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:194118498G>A	ENST00000401815.1	-	1	585	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	GP5_ENST00000323007.3_Silent_p.L172L			P40197	GPV_HUMAN	glycoprotein V (platelet)	172					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AACAACTTCAGGTTCTCCAGA	0.512000													27	43					0	0	0.000720815	0	0
LAMA1	284217	broad.mit.edu	37	18	7013954	7013954	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:7013954C>T	ENST00000389658.3	-	23	3316	c.3223G>A	c.(3223-3225)Gat>Aat	p.D1075N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1075	Laminin EGF-like 12.			D -> V (in Ref. 3; CAA41418).	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACACTGATCGCAGGCCCGG	0.592000													6	6					0	0	0.00116845	0	0
ACTN3	89	broad.mit.edu	37	11	66323701	66323701	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:66323701G>A	ENST00000513398.1	+	0	901				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GGGCTGAGCAGGTAAGGCGGC	0.597000													22	33					0	0	0.00188189	0	0
CD180	4064	broad.mit.edu	37	5	66479238	66479238	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:66479238C>T	ENST00000256447.4	-	3	1590	c.1433G>A	c.(1432-1434)gGg>gAg	p.G478E		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	478					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAAGTGATTCCCTTTTAAGTT	0.463000													33	54					0	0	0.00178596	0	0
HTRA3	94031	broad.mit.edu	37	4	8288468	8288468	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:8288468C>T	ENST00000307358.2	+	3	870	c.666C>T	c.(664-666)atC>atT	p.I222I	HTRA3_ENST00000382512.3_Silent_p.I222I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	222	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCAAAGACATCGACAAGAAGT	0.612000													22	26					0	0	0.000295444	0	0
ZNF646	9726	broad.mit.edu	37	16	31089890	31089890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:31089890C>T	ENST00000394979.2	+	1	2668	c.2245C>T	c.(2245-2247)Cag>Tag	p.Q749*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.Q749*			O15015	ZN646_HUMAN	zinc finger protein 646	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GACCCATTTCCAGGGTGATAA	0.537000													60	97					0	0	0.000781405	0	0
TRIB1	10221	broad.mit.edu	37	8	126448340	126448340	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:126448340T>A	ENST00000311922.3	+	3	1328	c.746T>A	c.(745-747)gTg>gAg	p.V249E	TRIB1_ENST00000519576.1_Missense_Mutation_p.V18E|TRIB1_ENST00000520847.1_Missense_Mutation_p.V83E	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	249	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CCAGCCTACGTGAGCCCTGAG	0.527000													107	185					0	0	0.000781405	0	0
OR7G1	125962	broad.mit.edu	37	19	9225760	9225760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9225760C>T	ENST00000293614.1	-	1	679	c.680G>A	c.(679-681)aGa>aAa	p.R227K	OR7G1_ENST00000541538.1_Missense_Mutation_p.R227K			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	227					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						TGATGGCATTCTCAGAACAGA	0.393000													24	49					0	0	0.000295444	0	0
GABRG3	2567	broad.mit.edu	37	15	27772760	27772760	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:27772760G>A	ENST00000333743.6	+	8	1301	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	349					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T349T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CAACCACCACGAAGAAGACAA	0.493000													5	10					0	0	0.000602214	0	0
LRFN2	57497	broad.mit.edu	37	6	40360141	40360141	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:40360141C>T	ENST00000338305.6	-	3	2453	c.1911G>A	c.(1909-1911)cgG>cgA	p.R637R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	637						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCAGGGGGCCCGTCCCAGCC	0.706000													6	2					0	0	0.00116845	0	0
DLGAP5	9787	broad.mit.edu	37	14	55637496	55637496	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:55637496G>A	ENST00000247191.2	-	11	1527	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	DLGAP5_ENST00000395425.2_Silent_p.L437L	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	437					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTCTGACTGGAGGATATTTC	0.338000													35	45					0	0	0.00058488	0	0
AGO3	192669	broad.mit.edu	37	1	36439063	36439063	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:36439063C>T	ENST00000373191.4	+	5	958	c.609C>T	c.(607-609)ttC>ttT	p.F203F	AGO3_ENST00000397828.2_Silent_p.F203F|AGO3_ENST00000324350.5_Silent_p.F203F|AGO3_ENST00000246314.6_Intron	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GGTTTGGATTCCATCAGTCTG	0.458000													57	58					0	0	0.000781405	0	0
OTOF	9381	broad.mit.edu	37	2	26703657	26703657	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:26703657C>T	ENST00000272371.2	-	15	1926	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	OTOF_ENST00000403946.3_Silent_p.S600S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	600					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCACCTCCGAGATGGGCG	0.667000													13	26					0	0	0.000219431	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060169	35060169	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35060169G>A	ENST00000373913.3	+	3	529	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP4_ENST00000401952.2_Missense_Mutation_p.D17N|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D17N|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D17N			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	17					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGACAGCCTAGACCCACCCCA	0.721000													9	13					0	0	0.000673444	0	0
ERBB2	2064	broad.mit.edu	37	17	37883082	37883082	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:37883082C>T	ENST00000406381.2	+	27	3405	c.2895C>T	c.(2893-2895)ggC>ggT	p.G965G	ERBB2_ENST00000540147.1_Silent_p.G965G|ERBB2_ENST00000541774.1_Silent_p.G980G|ERBB2_ENST00000445658.2_Silent_p.G719G|ERBB2_ENST00000584601.1_Silent_p.G965G|ERBB2_ENST00000584450.1_Silent_p.G995G|ERBB2_ENST00000269571.5_Silent_p.G995G	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	995	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGACTTGGGCCCAGCCAGTC	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			34	30					0	0	0.000692331	0	0
POF1B	79983	broad.mit.edu	37	X	84537306	84537306	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:84537306G>A	ENST00000262753.4	-	16	1812	c.1667C>T	c.(1666-1668)cCa>cTa	p.P556L	POF1B_ENST00000373145.3_Missense_Mutation_p.P556L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	556							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCCTAGGATTGGATATTGTGT	0.378000													4	0					0	0	0.000602214	0	0
FLG	2312	broad.mit.edu	37	1	152285957	152285957	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:152285957G>A	ENST00000368799.1	-	3	1440	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	469	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGGTAGAGGGAAGACCCT	0.612000									Ichthyosis				53	120					0	0	0.000781405	0	0
SPACA1	81833	broad.mit.edu	37	6	88767377	88767377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:88767377G>A	ENST00000237201.1	+	3	430	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	105						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CCCTGGTGGTGAATCCAAGTG	0.393000													22	7					0	0	0.00127121	0	0
CWH43	80157	broad.mit.edu	37	4	49040062	49040062	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:49040062C>T	ENST00000226432.4	+	13	1851	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	CWH43_ENST00000513409.1_Silent_p.L529L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	556					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATGACCTCGACAGGAAAC	0.363000													23	38					0	0	0.000586117	0	0
SERINC5	256987	broad.mit.edu	37	5	79446751	79446751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:79446751G>A	ENST00000507668.2	-	9	1157	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	SERINC5_ENST00000512721.1_Missense_Mutation_p.S336L|SERINC5_ENST00000512972.2_Missense_Mutation_p.S336L|SERINC5_ENST00000509193.1_Missense_Mutation_p.S334L	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	336					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTCAGAACTCGATCTTGTTGT	0.463000													46	58					0	0	0.000781405	0	0
LINC00886	730091	broad.mit.edu	37	3	156528377	156528377	+	RNA	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:156528377C>A	ENST00000472943.1	-	0	148					NR_038387.1																						CTTTCTCACACAGGCTCAGTA	0.473000													19	15					2.39187e-15	1.539e-14	0.00121646	1	0
SEMG1	6406	broad.mit.edu	37	20	43835771	43835771	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:43835771G>A	ENST00000372781.3	+	1	133		c.e1+1		SEMG1_ENST00000244069.6_Splice_Site	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGACAAAAAGGTGAGTGGAGA	0.453000													11	19					0	0	0.000978159	0	0
NALCN	259232	broad.mit.edu	37	13	101717857	101717857	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:101717857C>T	ENST00000251127.6	-	40	4584	c.4503G>A	c.(4501-4503)ctG>ctA	p.L1501L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1501						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCCACCTCCAGCCTCCCAC	0.577000													26	30					0	0	0.000586117	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213059	43213059	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:43213059T>A	ENST00000236040.4	-	14	1979	c.1939A>T	c.(1939-1941)Aga>Tga	p.R647*	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Nonsense_Mutation_p.R647*|LEPRE1_ENST00000397054.3_Nonsense_Mutation_p.R647*	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	647	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCACGGCTCTTCCACACTGA	0.582000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	33					0	0	0.00106085	0	0
SCTR	6344	broad.mit.edu	37	2	120221773	120221773	+	Missense_Mutation	SNP	G	G	A	rs142033327		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:120221773G>A	ENST00000019103.5	-	6	829	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	188					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACAGGGCACGAAGGATGAAG	0.557000													26	28					0	0	0.000586117	0	0
GPR98	84059	broad.mit.edu	37	5	90046514	90046514	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:90046514G>A	ENST00000405460.2	+	53	11217	c.11121_splice	c.e53+1	p.V3707_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3707	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTCAGGAGTGGTATGTAATT	0.368000													47	78					0	0	0.000781405	0	0
KAT6B	23522	broad.mit.edu	37	10	76789951	76789951	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:76789951C>T	ENST00000287239.4	+	18	5858	c.5369C>T	c.(5368-5370)gCc>gTc	p.A1790V	KAT6B_ENST00000372724.1_Missense_Mutation_p.A1498V|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1498V|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1607V|KAT6B_ENST00000372714.1_Missense_Mutation_p.A1498V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1790	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACGAGCAACGCCAACATTGGC	0.587000													33	28					0	0	0.00058488	0	0
GPR98	84059	broad.mit.edu	37	5	90012451	90012451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:90012451C>T	ENST00000405460.2	+	43	9448	c.9352C>T	c.(9352-9354)Cag>Tag	p.Q3118*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3118					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTGACAGTTCAGTTCATTGT	0.413000													23	29					0	0	0.000295444	0	0
DIDO1	11083	broad.mit.edu	37	20	61511988	61511988	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:61511988G>A	ENST00000266070.4	-	16	5645	c.5320C>T	c.(5320-5322)Cca>Tca	p.P1774S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1774S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1774	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCCCCCTTGGTCCCGGGAAA	0.627000													29	40					0	0	0.001512	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740553	37740553	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:37740553G>A	ENST00000539465.1	+	15	2621	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E	FRMPD1_ENST00000377765.3_Silent_p.E676E|FRMPD1_ENST00000541302.1_Silent_p.E545E|FRMPD1_ENST00000536622.1_Silent_p.E498E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	676						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTTTTCCGAGAGTGCTGCTT	0.582000													12	4					0	0	0.000978159	0	0
C2orf16	84226	broad.mit.edu	37	2	27802578	27802578	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27802578G>A	ENST00000408964.2	+	1	3190	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1047										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGTTCCAATGGAAGAAAGTGA	0.473000													37	57					0	0	0.00170553	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	22995438	22995438	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:22995438G>A	ENST00000312584.3	-	9	1200	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	369					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGCTTTTCGGAGCCCACCAG	0.473000													25	20					0	0	0.000586117	0	0
SEMA3G	56920	broad.mit.edu	37	3	52470059	52470059	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52470059C>T	ENST00000231721.2	-	16	1908	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	637	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGCCCCCGCTCCGTGTGCAAG	0.647000													10	19					0	0	0.000673444	0	0
MTMR8	55613	broad.mit.edu	37	X	63579383	63579383	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:63579383G>A	ENST00000374852.3	-	2	116	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	MTMR8_ENST00000453546.1_Missense_Mutation_p.R17C	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	17						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTCACATAACGATCCACCAAT	0.428000													13	4					0	0	0.00185496	0	0
GPR112	139378	broad.mit.edu	37	X	135469904	135469904	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:135469904C>T	ENST00000394143.1	+	16	8073	c.7782C>T	c.(7780-7782)ttC>ttT	p.F2594F	GPR112_ENST00000412101.1_Silent_p.F2389F|GPR112_ENST00000394141.1_Silent_p.F2389F|GPR112_ENST00000370652.1_Silent_p.F2594F|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2594					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)					GGCAGATTTTCCTAGGCAATG	0.433000													13	8					0	0	0.000422831	0	0
LINS	55180	broad.mit.edu	37	15	101114038	101114038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:101114038G>A	ENST00000314742.8	-	5	1262	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	LINS_ENST00000561308.1_Missense_Mutation_p.S347L|LINS_ENST00000560133.1_Missense_Mutation_p.S228L|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	347										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAACAACCCCGAATTCACAGC	0.453000													35	48					0	0	0.00170553	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269457	150269457	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:150269457C>T	ENST00000255945.2	+	3	474	c.299C>T	c.(298-300)tCc>tTc	p.S100F	GIMAP4_ENST00000461940.1_Missense_Mutation_p.S114F|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	100							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGAAACGTCCAAGGAGATT	0.517000													22	18					0	0	0.00188189	0	0
DSG4	147409	broad.mit.edu	37	18	28968435	28968435	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:28968435G>A	ENST00000359747.4	+	4	351	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E108K	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	108	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCGCACTGGGGAAATTAACAT	0.398000													4	10					0	0	0.00024832	0	0
DDX60	55601	broad.mit.edu	37	4	169204758	169204758	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:169204758C>T	ENST00000393743.3	-	13	1853		c.e13-1			NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTAGATTTTTCTGAAAAAGAA	0.308000													4	21					0	0	0.00024832	0	0
C16orf62	57020	broad.mit.edu	37	16	19628025	19628025	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:19628025C>T	ENST00000438132.3	+	14	1434	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Silent_p.V223V|C16orf62_ENST00000543152.1_Silent_p.V122V|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000251143.5_Silent_p.V373V	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	373						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						GGGATACGGTCCAGAACCAGC	0.507000													15	39					0	0	0.000422831	0	0
DYSF	8291	broad.mit.edu	37	2	71780979	71780979	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:71780979T>G	ENST00000258104.3	+	21	2250	c.1973T>G	c.(1972-1974)gTg>gGg	p.V658G	DYSF_ENST00000409762.1_Missense_Mutation_p.V675G|DYSF_ENST00000409366.1_Missense_Mutation_p.V659G|DYSF_ENST00000410020.3_Missense_Mutation_p.V676G|DYSF_ENST00000429174.2_Missense_Mutation_p.V658G|DYSF_ENST00000413539.2_Missense_Mutation_p.V689G|DYSF_ENST00000409582.3_Missense_Mutation_p.V675G|DYSF_ENST00000409744.1_Missense_Mutation_p.V645G|DYSF_ENST00000409651.1_Missense_Mutation_p.V690G|DYSF_ENST00000394120.2_Missense_Mutation_p.V659G|DYSF_ENST00000410041.1_Missense_Mutation_p.V676G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	658						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGAAACCTGTGGTGGTGCTG	0.587000													16	12					0	0	0.000422831	0	0
ADRBK1	156	broad.mit.edu	37	11	67047159	67047159	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:67047159G>A	ENST00000308595.5	+	5	719	c.429G>A	c.(427-429)ccG>ccA	p.P143P	ADRBK1_ENST00000526285.1_Silent_p.P143P	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	143	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGGTGCCTCCGGATCTCTTCC	0.637000													18	23					0	0	0.00074312	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434032	22434032	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:22434032G>A	ENST00000390442.3	+	0	141																											GGTGGAGCAGGATCCTGGACC	0.478000													6	4					0	0	8.12818e-05	0	0
AOC3	8639	broad.mit.edu	37	17	41003627	41003627	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:41003627C>T	ENST00000308423.2	+	1	427	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	89					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CAGCCCAGGCCCGGCCCTCGG	0.672000													49	70					0	0	0.000781405	0	0
PKP3	11187	broad.mit.edu	37	11	396916	396916	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:396916G>A	ENST00000331563.2	+	3	491	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	139					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCACAACGGGGGCAGCGC	0.711000													12	1					0	0	0.00136819	0	0
TRIML2	205860	broad.mit.edu	37	4	189020237	189020237	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:189020237G>A	ENST00000512729.1	-	4	797	c.423C>T	c.(421-423)atC>atT	p.I141I	TRIML2_ENST00000326754.3_Silent_p.I141I|TRIML2_ENST00000536972.1_Silent_p.I191I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	141							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTCCACGATGAGCTTTA	0.478000													35	58					0	0	0.000814825	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094804	9094804	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:9094804G>A	ENST00000383836.3	-	9	1657	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.S410S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	410					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGACTTGACGGACTCTGTCG	0.488000			T	RAF1	pilocytic astrocytoma								30	30					0	0	0.00058488	0	0
TAF1L	138474	broad.mit.edu	37	9	32631150	32631150	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:32631150C>T	ENST00000242310.4	-	1	4517	c.4428G>A	c.(4426-4428)gcG>gcA	p.A1476A		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1476	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATTGTAGGTCGCACTGTTTT	0.428000													55	19					0	0	0.000781405	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45642855	45642855	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:45642855C>T	ENST00000427229.2	+	0	14																											AATATCACCTCCTAGGAAATA	0.438000													8	6					0	0	0.000157383	0	0
HELB	92797	broad.mit.edu	37	12	66725067	66725067	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:66725067C>T	ENST00000247815.4	+	12	2863	c.2804C>T	c.(2803-2805)gCc>gTc	p.A935V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	935					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTCCGGAATGCCATTATGAAA	0.542000													53	6					0	0	0.000781405	0	0
SPPL2B	56928	broad.mit.edu	37	19	2345312	2345312	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:2345312C>T	ENST00000452401.2	+	0	1415				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTATACTTCGTGGCCTGCA	0.647000													9	20					0	0	0.000673444	0	0
LANCL1	10314	broad.mit.edu	37	2	211302519	211302519	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:211302519G>A	ENST00000443314.1	-	6	1110	c.768C>T	c.(766-768)ttC>ttT	p.F256F	AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Silent_p.F256F|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Silent_p.F256F|LANCL1_ENST00000431941.2_Silent_p.F256F|LANCL1_ENST00000441020.3_Silent_p.F256F			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	256						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TGCCAGAAGGGAATTTCAGCT	0.478000													19	18					0	0	0.000958276	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:69095234C>T	ENST00000332644.5	-	8	848	c.686_splice	c.e8-1	p.K229_splice		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000													11	15					0	0	0.000978159	0	0
TTC7A	57217	broad.mit.edu	37	2	47300885	47300885	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:47300885G>A	ENST00000319190.5	+	20	2768	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K	TTC7A_ENST00000394850.2_Silent_p.K824K|CALM2_ENST00000422269.1_Intron|TTC7A_ENST00000409245.1_Silent_p.K766K|TTC7A_ENST00000263737.6_Silent_p.K446K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	800							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCCCAGAAGGTGCTTCGTG	0.652000													28	46					0	0	0.000339439	0	0
MOG	4340	broad.mit.edu	37	6	29627375	29627375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29627375G>A	ENST00000376894.4	+	2	486	c.368G>A	c.(367-369)gGa>gAa	p.G123E	MOG_ENST00000376902.3_Missense_Mutation_p.G123E|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.G123E|MOG_ENST00000416766.2_Missense_Mutation_p.G123E|MOG_ENST00000376898.3_Missense_Mutation_p.G123E|MOG_ENST00000376917.3_Missense_Mutation_p.G123E|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.G123E|MOG_ENST00000376891.4_Missense_Mutation_p.G123E|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.G123E|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.G123E|MOG_ENST00000494692.1_Missense_Mutation_p.G123E			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	123	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCAGATGAAGGAGGTTTCACC	0.463000													50	32					0	0	0.000781405	0	0
OR4K2	390431	broad.mit.edu	37	14	20344685	20344685	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20344685A>C	ENST00000298642.2	+	1	295	c.259A>C	c.(259-261)Aca>Cca	p.T87P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATTACCTAACAGGTCACAA	0.413000													28	103					0	0	0.00106085	0	0
SREBF1	6720	broad.mit.edu	37	17	17721087	17721087	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:17721087G>A	ENST00000355815.4	-	8	1586	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	SREBF1_ENST00000435530.2_Missense_Mutation_p.L443F|SREBF1_ENST00000261646.5_Missense_Mutation_p.L443F|SREBF1_ENST00000338854.5_Missense_Mutation_p.L443F|SREBF1_ENST00000395757.1_Missense_Mutation_p.L189F	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	443	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGCTGCCAAGGGACAAGGGG	0.652000													27	35					0	0	0.001512	0	0
SLC12A6	9990	broad.mit.edu	37	15	34536194	34536194	+	Nonsense_Mutation	SNP	G	G	A	rs121908428		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:34536194G>A	ENST00000354181.3	-	16	2515	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*	SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.R616*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.R675*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.R616*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.R660*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.R666*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.R675*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.R487*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.R487*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.R624*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	675					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAGCGGAATCGGGGTCTCCAG	0.408000													50	82					0	0	0.000781405	0	0
FBN3	84467	broad.mit.edu	37	19	8155129	8155129	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:8155129C>G	ENST00000600128.1	-	49	6452	c.6038G>C	c.(6037-6039)cGg>cCg	p.R2013P	FBN3_ENST00000601739.1_Missense_Mutation_p.R2013P|FBN3_ENST00000270509.2_Missense_Mutation_p.R2013P			Q75N90	FBN3_HUMAN	fibrillin 3	2013						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAACTCTGCCGTGTGTCTGT	0.612000													7	18					0	0	0.000274275	0	0
SLC12A6	9990	broad.mit.edu	37	15	34536195	34536195	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:34536195G>A	ENST00000354181.3	-	16	2514	c.2022C>T	c.(2020-2022)ccC>ccT	p.P674P	SLC12A6_ENST00000397702.2_Silent_p.P615P|SLC12A6_ENST00000560611.1_Silent_p.P674P|SLC12A6_ENST00000458406.2_Silent_p.P615P|SLC12A6_ENST00000397707.2_Silent_p.P659P|SLC12A6_ENST00000558589.1_Silent_p.P665P|SLC12A6_ENST00000558667.1_Silent_p.P674P|SLC12A6_ENST00000560164.1_Silent_p.P486P|SLC12A6_ENST00000451844.2_Silent_p.P486P|SLC12A6_ENST00000290209.5_Silent_p.P623P			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	674					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCGGAATCGGGGTCTCCAGT	0.413000													50	82					0	0	0.000781405	0	0
GRIA2	2891	broad.mit.edu	37	4	158282245	158282245	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:158282245G>A	ENST00000264426.9	+	14	2654	c.2375G>A	c.(2374-2376)gGa>gAa	p.G792E	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000449365.1_Intron	NM_001083619.1	NP_001077088.1	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	792					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TACGACAAAGGAGAGTGCGGC	0.448000													4	7					0	0	0.00024832	0	0
SGIP1	84251	broad.mit.edu	37	1	67155970	67155970	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:67155970C>T	ENST00000371037.4	+	17	1618	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	SGIP1_ENST00000371036.3_Missense_Mutation_p.S314F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S315F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S545F|SGIP1_ENST00000371035.3_Missense_Mutation_p.S304F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	514					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAACCAATTCCTTGAGCGCA	0.468000													50	47					0	0	0.000781405	0	0
ATF2	1386	broad.mit.edu	37	2	175976345	175976345	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:175976345C>T	ENST00000264110.2	-	10	1077	c.779G>A	c.(778-780)gGa>gAa	p.G260E	ATF2_ENST00000392544.1_Missense_Mutation_p.G260E|ATF2_ENST00000409437.1_Missense_Mutation_p.G144E|ATF2_ENST00000409635.1_Missense_Mutation_p.G202E|ATF2_ENST00000538946.1_Missense_Mutation_p.G242E|ATF2_ENST00000487334.2_Missense_Mutation_p.E204K|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.G202E|ATF2_ENST00000426833.3_Missense_Mutation_p.G242E	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	260					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACCTGGGATTCCTGGAACACT	0.393000													45	74					0	0	0.000781405	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634535	156634535	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:156634535T>A	ENST00000296518.7	+	7	1581	c.1372T>A	c.(1372-1374)Ttt>Att	p.F458I	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.F458I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.F458I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.F458I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.F458I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.F200I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.F458I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	458					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGCTCCATATTTCCCTGTGA	0.522000													9	8					0	0	0.000978159	0	0
CNTN3	5067	broad.mit.edu	37	3	74347205	74347205	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:74347205G>A	ENST00000263665.6	-	17	2331	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	768	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATGGCACGATGCTTTCAT	0.453000													21	29					0	0	0.00188189	0	0
COL22A1	169044	broad.mit.edu	37	8	139729104	139729104	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:139729104A>G	ENST00000303045.6	-	28	2810	c.2364T>C	c.(2362-2364)atT>atC	p.I788I	COL22A1_ENST00000435777.1_Silent_p.I788I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	788	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGCTCCCCAATTTCTCCCT	0.413000										HNSCC(7;0.00092)			20	46					0	0	0.000720815	0	0
GOLGA1	2800	broad.mit.edu	37	9	127684102	127684102	+	Missense_Mutation	SNP	G	G	A	rs149867372		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:127684102G>A	ENST00000373555.4	-	9	964	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	211						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCCTGGGTACGACTAAGTTCT	0.418000													40	15					0	0	0.00128727	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55890037C>T	ENST00000313472.3	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000													33	27					0	0	0.00111076	0	0
NPAP1	23742	broad.mit.edu	37	15	24921240	24921240	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:24921240C>T	ENST00000329468.2	+	1	700	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCTCTCCCTCGGGCTGCGGC	0.711000													12	20					0	0	0.00185496	0	0
PRKDC	5591	broad.mit.edu	37	8	48815190	48815190	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:48815190G>A	ENST00000314191.2	-	27	3264	c.3208C>T	c.(3208-3210)Ccc>Tcc	p.P1070S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1070S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1070					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGCATTGGGGTGAAGCGCA	0.428000								Non-homologous end-joining					14	19					0	0	0.000422831	0	0
KLF17	128209	broad.mit.edu	37	1	44595563	44595563	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:44595563C>T	ENST00000372299.3	+	2	678	c.620C>T	c.(619-621)tCc>tTc	p.S207F	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	207					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGCTCCCCTCCATGGCTCAG	0.582000													19	36					0	0	0.00152264	0	0
RNF17	56163	broad.mit.edu	37	13	25418818	25418818	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:25418818G>A	ENST00000255324.5	+	21	2912	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	RNF17_ENST00000381921.1_Missense_Mutation_p.E954K|RNF17_ENST00000339524.3_Missense_Mutation_p.E6K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	954					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTGCTTATGAAAACTCAAA	0.328000													37	47					0	0	0.00170553	0	0
MAPK10	5602	broad.mit.edu	37	4	87023060	87023060	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:87023060C>T	ENST00000395169.3	-	7	1157	c.437G>A	c.(436-438)gGa>gAa	p.G146E	MAPK10_ENST00000361569.2_Missense_Mutation_p.G184E|MAPK10_ENST00000449047.2_Missense_Mutation_p.G39E|MAPK10_ENST00000395166.1_Missense_Mutation_p.G146E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G184E|MAPK10_ENST00000395157.3_Missense_Mutation_p.G39E|MAPK10_ENST00000359221.3_Missense_Mutation_p.G184E|MAPK10_ENST00000395160.3_Missense_Mutation_p.G39E	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	184	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GTGAATAATTCCAGCAGAATG	0.403000													17	20					0	0	0.000958276	0	0
RARS	5917	broad.mit.edu	37	5	167915683	167915683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:167915683T>A	ENST00000231572.3	+	2	176	c.122T>A	c.(121-123)tTg>tAg	p.L41*	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	41	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TCTCCAAATTTGGAGCAGTTA	0.353000													37	36					0	0	0.000953801	0	0
SUSD4	55061	broad.mit.edu	37	1	223402594	223402594	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:223402594G>A	ENST00000343846.3	-	5	1494	c.861C>T	c.(859-861)atC>atT	p.I287I	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.I287I|SUSD4_ENST00000454695.2_Silent_p.I127I			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	287	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACTGGCAGGTGATGTACTTGT	0.537000													36	96					0	0	0.000437636	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454455	6454455	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6454455A>C	ENST00000301454.4	-	6	780	c.674T>G	c.(673-675)aTc>aGc	p.I225S	SLC25A23_ENST00000414491.2_Missense_Mutation_p.I42S|SLC25A23_ENST00000334510.5_Missense_Mutation_p.I225S	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	225					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCCCCCAAGGATGTTCAGCCG	0.597000													27	54					0	0	0.001512	0	0
LILRB4	11006	broad.mit.edu	37	19	55179098	55179098	+	Missense_Mutation	SNP	G	G	A	rs146325339	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55179098G>A	ENST00000391736.1	+	13	1369	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	LILRB4_ENST00000430952.2_Missense_Mutation_p.D351N|LILRB4_ENST00000270452.2_Missense_Mutation_p.D352N|LILRB4_ENST00000391733.3_Missense_Mutation_p.D353N|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	352						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCCACACGATGAAGACCC	0.567000													13	14					0	0	0.000422831	0	0
UNC5D	137970	broad.mit.edu	37	8	35402039	35402039	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:35402039C>T	ENST00000453357.2	+	1	130	c.74C>T	c.(73-75)tCc>tTc	p.S25F	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000404895.2_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GACTTTTCCTCCCAAACTTCA	0.408000													20	35					0	0	0.00152264	0	0
HIP1	3092	broad.mit.edu	37	7	75182833	75182833	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:75182833G>A	ENST00000336926.6	-	22	2240	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S	HIP1_ENST00000434438.2_Silent_p.S738S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	738					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTCCTCCAGGGAGGCCAGGT	0.527000			T	PDGFRB	CMML								38	36					0	0	0.00128727	0	0
GYS1	2997	broad.mit.edu	37	19	49490544	49490544	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49490544G>A	ENST00000323798.3	-	3	595	c.399C>T	c.(397-399)ctC>ctT	p.L133L	GYS1_ENST00000540532.1_Silent_p.L53L|GYS1_ENST00000541188.1_Silent_p.L53L|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	133					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGGTATCCCAGAGCTCTCCCT	0.637000													12	6					0	0	0.00136819	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362473	105362473	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105362473G>A	ENST00000369774.4	-	15	2778	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.T701T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.T669T|SH3PXD2A_ENST00000355946.2_Silent_p.T806T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	834					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATTCCTTCTTGGTGGGACATG	0.647000													31	44					0	0	0.000409698	0	0
C5orf34	375444	broad.mit.edu	37	5	43488032	43488032	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:43488032C>T	ENST00000306862.2	-	12	2074	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	567										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGTATCTTTTCAAGTTCAGAA	0.323000													10	11					0	0	0.000442599	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979025	6979025	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:6979025G>A	ENST00000576617.1	-	7	888	c.619C>T	c.(619-621)Cta>Tta	p.L207L	CLEC10A_ENST00000416562.2_Intron|CLEC10A_ENST00000571664.1_Intron|CLEC10A_ENST00000254868.4_Intron			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	0	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ACATGTCTTAGGAACTGAGTA	0.542000													24	22					0	0	0.000375601	0	0
GAS7	8522	broad.mit.edu	37	17	9850239	9850239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:9850239G>A	ENST00000396115.1	-	6	717	c.407C>T	c.(406-408)aCc>aTc	p.T136I	GAS7_ENST00000585266.1_Missense_Mutation_p.T132I|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.T132I|GAS7_ENST00000542249.1_Missense_Mutation_p.T141I|GAS7_ENST00000437099.2_Missense_Mutation_p.T132I|GAS7_ENST00000583882.1_Missense_Mutation_p.T56I|GAS7_ENST00000580865.1_Missense_Mutation_p.T56I|GAS7_ENST00000432992.2_Missense_Mutation_p.T196I|GAS7_ENST00000579158.1_Missense_Mutation_p.T148I	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	196					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCTCCACTCGGTTGGTTTCAG	0.582000			T	MLL	AML*								13	11					0	0	0.000566183	0	0
MYO9A	4649	broad.mit.edu	37	15	72190481	72190481	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:72190481G>A	ENST00000356056.5	-	25	4835	c.4363C>T	c.(4363-4365)Ctt>Ttt	p.L1455F	MYO9A_ENST00000566885.1_Missense_Mutation_p.L1075F|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1455F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1436F|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1455F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1455	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCAAAGTAAGAGCTTCCCCC	0.393000													20	27					0	0	0.00152264	0	0
ITGA3	3675	broad.mit.edu	37	17	48149481	48149481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:48149481C>T	ENST00000320031.8	+	7	1421	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	ITGA3_ENST00000007722.7_Missense_Mutation_p.P364L|ITGA3_ENST00000544892.1_Missense_Mutation_p.P139L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	364					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.P364R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTTCATGGCCCCAGTGGCTCT	0.557000													42	44					0	0	0.000781405	0	0
CLSPN	63967	broad.mit.edu	37	1	36186542	36186542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:36186542C>T	ENST00000251195.5	-	25	4045	c.3949G>A	c.(3949-3951)Gga>Aga	p.G1317R				Q9HAW4	CLSPN_HUMAN	claspin	0					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAGGAGCTCCACTCCAGGTG	0.493000													17	20					0	0	0.00074312	0	0
IMMT	10989	broad.mit.edu	37	2	86371633	86371633	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:86371633C>T	ENST00000410111.3	-	15	2422	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	IMMT_ENST00000409051.2_Missense_Mutation_p.E632K|IMMT_ENST00000254636.5_Missense_Mutation_p.E580K|IMMT_ENST00000449247.2_Missense_Mutation_p.E668K|IMMT_ENST00000442664.2_Missense_Mutation_p.E678K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	679						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCAGAGCTCTGGGGGCGGC	0.453000													28	36					0	0	0.001512	0	0
NR5A2	2494	broad.mit.edu	37	1	200090020	200090020	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:200090020C>T	ENST00000367362.3	+	7	1561	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	NR5A2_ENST00000236914.3_Missense_Mutation_p.R393C|NR5A2_ENST00000544748.1_Missense_Mutation_p.R367C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCAAAACTTCGTTCTCTCCA	0.438000													32	83					0	0	0.000409698	0	0
VRK2	7444	broad.mit.edu	37	2	58359036	58359036	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:58359036C>T	ENST00000435505.2	+	12	1515	c.770C>T	c.(769-771)cCt>cTt	p.P257L	VRK2_ENST00000440705.2_Missense_Mutation_p.P234L|VRK2_ENST00000417641.2_Missense_Mutation_p.P257L|VRK2_ENST00000340157.4_Missense_Mutation_p.P257L|VRK2_ENST00000412104.2_Missense_Mutation_p.P257L			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	257	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTGAAGGACCCTGTGGCTGTG	0.478000													13	20					0	0	0.00185496	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013292	107013292	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:107013292C>T	ENST00000390625.2	-	0	126																											CCACACATATCCACTGTTTCT	0.488000													22	28					0	0	0.00188189	0	0
DGKB	1607	broad.mit.edu	37	7	14613949	14613949	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:14613949C>T	ENST00000403951.2	-	20	2080	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N	DGKB_ENST00000407950.1_Missense_Mutation_p.S546N|DGKB_ENST00000406247.3_Missense_Mutation_p.S554N|DGKB_ENST00000399322.3_Missense_Mutation_p.S554N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.S535N|DGKB_ENST00000258767.5_Missense_Mutation_p.S554N|DGKB_ENST00000402815.1_Missense_Mutation_p.S553N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	554	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GATTTCTGTGCTGTTTTCAAT	0.343000													43	71					0	0	0.00148497	0	0
ADAM29	11086	broad.mit.edu	37	4	175897470	175897470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:175897470C>T	ENST00000359240.3	+	5	1464	c.794C>T	c.(793-795)tCt>tTt	p.S265F	ADAM29_ENST00000514159.1_Missense_Mutation_p.S265F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S265F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S265F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	265	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTAAGGAAATCTGTGCACCTG	0.408000													21	35					0	0	0.000295444	0	0
EFHB	151651	broad.mit.edu	37	3	19924167	19924167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:19924167G>A	ENST00000295824.9	-	12	2364	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	EFHB_ENST00000344838.4_Missense_Mutation_p.R605C	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	735					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGATGCGACGAATTCGGGGA	0.418000													15	17					0	0	0.00074312	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801030	133801030	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:133801030C>T	ENST00000321016.8	-	11	1599		c.e11-1		IGSF9B_ENST00000533871.2_Splice_Site			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTTCCCTACCTTGGTGAACA	0.637000													17	35					0	0	0.00188189	0	0
SZT2	23334	broad.mit.edu	37	1	43896717	43896717	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:43896717C>T	ENST00000562955.1	+	32	4701	c.4701C>T	c.(4699-4701)ccC>ccT	p.P1567P	SZT2_ENST00000372442.1_Silent_p.P725P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1624						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGACTTTGCCCCTGGAAGTGG	0.617000													25	35					0	0	0.000586117	0	0
BATF3	55509	broad.mit.edu	37	1	212860307	212860307	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:212860307C>T	ENST00000243440.1	-	3	432	c.210G>A	c.(208-210)ctG>ctA	p.L70L	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	70	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTTCTTGCTCCAGGCTCTCAT	0.572000													116	68					0	0	0.000781405	0	0
PRPF8	10594	broad.mit.edu	37	17	1580001	1580001	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:1580001G>A	ENST00000572621.1	-	15	2451	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L	PRPF8_ENST00000304992.6_Missense_Mutation_p.P729L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	729						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGGCAGCCCAGGGACCTAAAA	0.557000													62	66					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179591859	179591859	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179591859G>A	ENST00000589042.1	-	69	20457	c.20233C>T	c.(20233-20235)Ccc>Tcc	p.P6745S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6428S|TTN_ENST00000342992.6_Missense_Mutation_p.P5501S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6428	Ig-like 49.						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)			CTGCCAGCGGGATTCTGAGCC	0.428000													9	11					0	0	0.000673444	0	0
WNT9B	7484	broad.mit.edu	37	17	44952698	44952698	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:44952698G>A	ENST00000393461.2	+	3	619	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	WNT9B_ENST00000290015.2_Missense_Mutation_p.R189Q			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	189					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGCGGGCACGGGCAGACGCC	0.617000													8	13					0	0	0.000274275	0	0
PTPRD	5789	broad.mit.edu	37	9	8454580	8454580	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:8454580C>T	ENST00000355233.5	-	18	2759	c.2657_splice	c.e18+1	p.R886_splice	PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000486161.1_Splice_Site_p.R885_splice|PTPRD_ENST00000397611.3_Splice_Site_p.R882_splice|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_130391.3|NM_130392.3|NM_130393.3	NP_569075.2|NP_569076.2|NP_569077.2	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1292	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTCCTCACCTGTCGGGTTT	0.408000										TSP Lung(15;0.13)			8	4					0	0	0.000274275	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30883181	30883181	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:30883181G>A	ENST00000251071.5	-	7	1846	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P366S|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P33S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P366S|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P366S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	366					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACCTCTTGTGGTTGTATCTCT	0.398000													32	5					0	0	0.000692331	0	0
GPR19	2842	broad.mit.edu	37	12	12815020	12815020	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:12815020G>A	ENST00000540510.1	-	2	555	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GPR19_ENST00000332427.2_Silent_p.F121F			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	121						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GGAGCAGGACGAAAGGCGTGC	0.522000													39	11					0	0	0.00128727	0	0
SPTA1	6708	broad.mit.edu	37	1	158615073	158615073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158615073C>T	ENST00000368148.3	-	29	4279	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1367K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1367					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTTTTTTTCAATTTCAGGG	0.507000													29	32					0	0	0.000339439	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607446	31607446	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:31607446C>T	ENST00000170150.3	+	11	1165	c.970C>T	c.(970-972)Cct>Tct	p.P324S		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	324						extracellular region	lipid binding										GGGTGCCACACCTGTGGCCAT	0.672000													14	18					0	0	0.000308642	0	0
ZNF695	57116	broad.mit.edu	37	1	247151424	247151424	+	Silent	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247151424C>A	ENST00000339986.7	-	4	540	c.393G>T	c.(391-393)gtG>gtT	p.V131V	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	131					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCACTCACCCACAATTTCCC	0.403000													11	535					0.00136819	0.00858408	0.00136819	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55378169	55378169	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55378169C>T	ENST00000326321.3	+	9	1384	c.1351C>T	c.(1351-1353)Ctt>Ttt	p.L451F	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L451F|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.L434F	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	451					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTCAGGTCTTGAGGGGGT	0.527000													62	97					0	0	0.000781405	0	0
ZNF699	374879	broad.mit.edu	37	19	9413135	9413135	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9413135C>T	ENST00000591998.1	-	3	322	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ZNF699_ENST00000308650.3_Missense_Mutation_p.E32K			Q32M78	ZN699_HUMAN	zinc finger protein 699	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGCCCATTCCTCCTGGGTA	0.443000													31	52					0	0	0.000491102	0	0
PGK2	5232	broad.mit.edu	37	6	49754498	49754498	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:49754498G>A	ENST00000304801.3	-	1	555	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	135					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTCCAGAGGGATCTTGGCCC	0.507000													12	36					0	0	0.00185496	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128160	68128160	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:68128160G>A	ENST00000585558.1	+	4	425	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	KCNJ16_ENST00000586462.1_Missense_Mutation_p.E17K|KCNJ16_ENST00000392670.1_5'UTR|KCNJ16_ENST00000589377.1_5'UTR|KCNJ16_ENST00000392671.1_5'UTR|KCNJ16_ENST00000283936.1_5'UTR			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	0					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCCAAACCAAGAAATAGCAAC	0.358000													10	10					0	0	0.000673444	0	0
FCN1	2219	broad.mit.edu	37	9	137803076	137803076	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:137803076C>T	ENST00000371806.3	-	8	727	c.636G>A	c.(634-636)gaG>gaA	p.E212E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	212	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GGTGGTTGCCCTCAAAGTCCA	0.527000													98	25					0	0	0.000781405	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219850	11219850	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:11219850C>T	ENST00000409790.1	+	22	2718	c.2488C>T	c.(2488-2490)Cca>Tca	p.P830S	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P812S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	830								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGACCTCCCAATCCAGCC	0.612000													81	98					0	0	0.000781405	0	0
USH2A	7399	broad.mit.edu	37	1	215847652	215847652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:215847652C>T	ENST00000366943.2	-	63	13987	c.13601G>A	c.(13600-13602)gGg>gAg	p.G4534E	USH2A_ENST00000307340.3_Missense_Mutation_p.G4534E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4534	Fibronectin type-III 31.				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)		AGGTTCCATCCCTGAGGGTGC	0.507000										HNSCC(13;0.011)			58	38					0	0	0.000781405	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884778	24884778	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:24884778C>T	ENST00000382554.3	+	9	4141	c.3823C>T	c.(3823-3825)Ctc>Ttc	p.L1275F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1275					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATTGGCCCTCCTCCAGGGCCT	0.637000													38	29					0	0	0.00148497	0	0
DSC2	1824	broad.mit.edu	37	18	28671089	28671089	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:28671089T>C	ENST00000280904.6	-	4	819	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DSC2_ENST00000251081.6_Missense_Mutation_p.K126E	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	126					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTTTTTCTTTAGTATGTCTT	0.363000													10	14					0	0	0.00136819	0	0
PREX2	80243	broad.mit.edu	37	8	69009299	69009299	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:69009299G>A	ENST00000288368.4	+	22	2693	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	806					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGGAAGAAGGAGCATGTGAG	0.423000													8	16					0	0	0.000274275	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351593	128351593	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:128351593G>A	ENST00000262462.4	+	5	1995	c.985G>A	c.(985-987)Gat>Aat	p.D329N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.D329N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.D329N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	329					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGAGAAAAGGATCATAAGGT	0.308000													7	26					0	0	0.000274275	0	0
CDH6	1004	broad.mit.edu	37	5	31294328	31294328	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:31294328T>A	ENST00000265071.2	+	3	753	c.488T>A	c.(487-489)gTt>gAt	p.V163D	CDH6_ENST00000514738.1_Missense_Mutation_p.V108D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	163	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCAAGGAGGTTTACACAGCC	0.478000													23	41					0	0	0.000878237	0	0
PES1	23481	broad.mit.edu	37	22	30977392	30977392	+	Missense_Mutation	SNP	C	C	T	rs145353108	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:30977392C>T	ENST00000402281.1	-	10	1325	c.334G>A	c.(334-336)Gag>Aag	p.E112K	PES1_ENST00000402284.3_Missense_Mutation_p.E234K|PES1_ENST00000405677.1_Missense_Mutation_p.E112K|PES1_ENST00000335214.6_Missense_Mutation_p.E251K|PES1_ENST00000354694.6_Missense_Mutation_p.E251K			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	251	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	p.E251K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GCCTGACCCTCGAGCTAGTAG	0.632000													20	25					0	0	0.00121646	0	0
MROH2B	133558	broad.mit.edu	37	5	41009411	41009411	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:41009411C>T	ENST00000399564.4	-	32	3841	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D686N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCGATGTCATCTTCTAACTCA	0.502000													21	31					0	0	0.000375601	0	0
SCN10A	6336	broad.mit.edu	37	3	38753718	38753718	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:38753718G>A	ENST00000449082.2	-	22	4022	c.4023C>T	c.(4021-4023)ttC>ttT	p.F1341F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1341					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)	TGACCCAGAAGAAGCTGCCAG	0.438000													52	46					0	0	0.000781405	0	0
SPEG	10290	broad.mit.edu	37	2	220356855	220356855	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:220356855T>A	ENST00000312358.7	+	40	9616	c.9484T>A	c.(9484-9486)Tat>Aat	p.Y3162N	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3162	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCCCGTTCTATGAGCCAGA	0.577000													13	24					0	0	0.00136819	0	0
RP11-192H23.4	0	broad.mit.edu	37	17	26941126	26941126	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:26941126G>A	ENST00000534850.1	-	1	85	c.54C>T	c.(52-54)acC>acT	p.T18T	RP11-192H23.4_ENST00000577790.1_Silent_p.T18T|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|SGK494_ENST00000301037.5_Silent_p.T18T																endometrium(2)|kidney(2)	4						CAGCCACCCGGGTGTGTTCCC	0.607000													39	34					0	0	0.000781405	0	0
DYSF	8291	broad.mit.edu	37	2	71892338	71892338	+	Missense_Mutation	SNP	C	C	T	rs11558178		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:71892338C>T	ENST00000258104.3	+	46	5381	c.5104C>T	c.(5104-5106)Ctc>Ttc	p.L1702F	DYSF_ENST00000409762.1_Missense_Mutation_p.L1719F|DYSF_ENST00000409366.1_Missense_Mutation_p.L1724F|DYSF_ENST00000410020.3_Missense_Mutation_p.L1741F|DYSF_ENST00000429174.2_Missense_Mutation_p.L1723F|DYSF_ENST00000413539.2_Missense_Mutation_p.L1733F|DYSF_ENST00000409582.3_Missense_Mutation_p.L1740F|DYSF_ENST00000409744.1_Missense_Mutation_p.L1710F|DYSF_ENST00000409651.1_Missense_Mutation_p.L1734F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.L1703F|DYSF_ENST00000410041.1_Missense_Mutation_p.L1720F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1702						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCCAGCTCCTCCACCTCTT	0.527000													30	49					0	0	0.000339439	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107932	42107932	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:42107932C>T	ENST00000457542.2	+	12	1714	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	MAPKBP1_ENST00000221214.6_Silent_p.I359I|MAPKBP1_ENST00000456763.2_Silent_p.I482I|MAPKBP1_ENST00000514566.1_Silent_p.I476I|MAPKBP1_ENST00000260357.7_Silent_p.I315I	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	482										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCGTGGGCATCCGCTCGGTGT	0.587000													12	16					0	0	0.000219431	0	0
SPINT2	10653	broad.mit.edu	37	19	38774365	38774365	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38774365G>A	ENST00000301244.7	+	2	640	c.205G>A	c.(205-207)Ggg>Agg	p.G69R	SPINT2_ENST00000587090.1_Missense_Mutation_p.G19R|SPINT2_ENST00000454580.3_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	69	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTTTGTGTATGGGGGCTGTGA	0.537000													44	56					0	0	0.00195071	0	0
ATXN2	6311	broad.mit.edu	37	12	111990746	111990746	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:111990746A>G	ENST00000377617.3	-	4	1025	c.864T>C	c.(862-864)ggT>ggC	p.G288G	ATXN2_ENST00000550104.1_Silent_p.G288G|ATXN2_ENST00000542287.2_Silent_p.G23G|ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000389153.4_Silent_p.G23G	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	288					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTTCATATATACCTCCATTTT	0.294000													36	13					0	0	0.000437636	0	0
TRPC7	57113	broad.mit.edu	37	5	135692931	135692931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:135692931C>T	ENST00000513104.1	-	2	427	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TRPC7_ENST00000355180.3_Missense_Mutation_p.D49N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D49N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	49					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGCCGAGTCCAGGAAGCGC	0.602000													34	67					0	0	0.000814825	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939701	6939701	+	RNA	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:6939701T>C	ENST00000251761.8	+	0	869				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CAGGGGGGCCTCTATGAGGCC	0.637000													9	2					0	0	0.000274275	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884947	12884947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12884947C>T	ENST00000535591.1	-	4	1359	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	388										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAAATCTGCTCCAGCAGAGAG	0.493000													111	141					0	0	0.000781405	0	0
IL2	3558	broad.mit.edu	37	4	123372940	123372940	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:123372940G>A	ENST00000226730.4	-	4	713	c.429C>T	c.(427-429)acC>acT	p.T143T		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	143					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TTTGACAAAAGGTAATCCATC	0.294000			T	TNFRSF17	intestinal T-cell lymphoma								16	20					0	0	0.000295444	0	0
MORC1	27136	broad.mit.edu	37	3	108682267	108682267	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:108682267G>A	ENST00000232603.5	-	27	2875	c.2793C>T	c.(2791-2793)ctC>ctT	p.L931L	MORC1_ENST00000483760.1_Silent_p.L910L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	931					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCACCAGTTGGAGTTTCTGCA	0.378000													18	37					0	0	0.000295444	0	0
FGF11	2256	broad.mit.edu	37	17	7345123	7345123	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7345123C>T	ENST00000293829.4	+	3	927	c.333C>T	c.(331-333)ctC>ctT	p.L111L	FGF11_ENST00000575398.1_5'UTR|FGF11_ENST00000575331.1_5'UTR|FGF11_ENST00000572907.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575082.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	111					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CTGTGGGCCTCCGTGTGGTCA	0.602000													13	16					0	0	0.00074312	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091420	19091420	+	RNA	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:19091420T>A	ENST00000365494.1	+	0	92																											ggaagagaggtagcgttttct	0.493000													40	406					0	0	0.000509022	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713866	142713866	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:142713866C>T	ENST00000369381.2	-	0	739																											TTCATTTCTTCCTGATTATGA	0.303000													4	8					0	0	0.00116845	0	0
EMR3	84658	broad.mit.edu	37	19	14765810	14765810	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:14765810G>A	ENST00000253673.5	-	6	661	c.561C>T	c.(559-561)atC>atT	p.I187I	EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Silent_p.I135I|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	187					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TATCGTTTTGGATTTTCAGGA	0.413000													16	34					0	0	0.000566183	0	0
CDH8	1006	broad.mit.edu	37	16	61747832	61747832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:61747832C>T	ENST00000577390.1	-	10	2521	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	CDH8_ENST00000299345.6_Missense_Mutation_p.D523N|CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Missense_Mutation_p.D523N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	523	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGGGATCATCTTTGTCCATG	0.378000													6	14					0	0	0.00116845	0	0
GPR115	221393	broad.mit.edu	37	6	47680197	47680197	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47680197C>T	ENST00000283303.2	+	5	663	c.405C>T	c.(403-405)atC>atT	p.I135I	GPR115_ENST00000327753.3_Silent_p.I135I|GPR115_ENST00000371220.1_Silent_p.I192I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTCAAGGAATCCGTAAGAACT	0.418000													25	63					0	0	0.000720815	0	0
DPT	1805	broad.mit.edu	37	1	168670275	168670275	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:168670275G>A	ENST00000367817.3	-	3	608	c.519C>T	c.(517-519)acC>acT	p.T173T		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	173	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGAGAAAGTGGTTGTTGCTC	0.453000													84	65					0	0	0.000781405	0	0
FLG2	388698	broad.mit.edu	37	1	152323424	152323424	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:152323424C>T	ENST00000388718.5	-	3	6910	c.6838G>A	c.(6838-6840)Gga>Aga	p.G2280R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2280							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)			TGTTGAGATCCAGCTTGGCCC	0.512000													60	48					0	0	0.000781405	0	0
MUC13	56667	broad.mit.edu	37	3	124630988	124630988	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:124630988C>T	ENST00000311075.3	-	9	1250	c.1211_splice	c.e9-1	p.K404_splice		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	404						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAAATGCACACCTGAAATACA	0.433000													10	21					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179558353	179558353	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179558353A>G	ENST00000589042.1	-	119	31801	c.31577T>C	c.(31576-31578)gTt>gCt	p.V10526A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V10209A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9282A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10209	Glu-rich.|Pro-rich.						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)			TGGTGGTTCAACCCTTTTGGA	0.284000													12	8					0	0	0.000308642	0	0
GRIP2	80852	broad.mit.edu	37	3	14564381	14564381	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:14564381G>A	ENST00000273083.3	-	0	632							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						caccgggcagggagtgttccc	0.577000													4	7					0	0	0.00024832	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702055	187702055	+	Missense_Mutation	SNP	G	G	A	rs149540467	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:187702055G>A	ENST00000295131.2	-	5	760	c.721C>T	c.(721-723)Cca>Tca	p.P241S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	241					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCAATTGGAAACTGTTTG	0.358000													8	11					0	0	0.000442599	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102493982	102493982	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:102493982G>A	ENST00000321521.9	+	15	2153	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G527E|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G527E			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	527					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAGAACTTGGAAGAGCCTTC	0.388000													7	15					0	0	8.12818e-05	0	0
CCDC54	84692	broad.mit.edu	37	3	107096864	107096864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:107096864G>A	ENST00000261058.1	+	1	677	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	144										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACAGAACTGGAAATTCAGAA	0.388000													25	21					0	0	0.000375601	0	0
OR2L8	391190	broad.mit.edu	37	1	248112261	248112261	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248112261C>T	ENST00000357191.3	+	1	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	34					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)			TTTTCATTTTCCTGATGGCTC	0.398000													81	52					0	0	0.000781405	0	0
EGR3	1960	broad.mit.edu	37	8	22548290	22548290	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:22548290C>T	ENST00000317216.2	-	2	1217	c.860G>A	c.(859-861)aGc>aAc	p.S287N	EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.S249N|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	287					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GTCCGAACGGCTGAAACGGCG	0.697000													22	31					0	0	0.00188189	0	0
ZNF345	25850	broad.mit.edu	37	19	37368585	37368585	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:37368585C>T	ENST00000529555.1	+	2	1641	c.853C>T	c.(853-855)Cct>Tct	p.P285S	ZNF345_ENST00000589046.1_Missense_Mutation_p.P285S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.P285S|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	285					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGAGAAACCTTATGTATG	0.403000													24	41					0	0	0.00106085	0	0
EDAR	10913	broad.mit.edu	37	2	109547439	109547439	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:109547439G>A	ENST00000409271.1	-	3	475	c.32C>T	c.(31-33)cCc>cTc	p.P11L	EDAR_ENST00000258443.2_Missense_Mutation_p.P11L|EDAR_ENST00000376651.1_Missense_Mutation_p.P11L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	11					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGAGCCAGGGCGTCTGCGT	0.612000													21	47					0	0	0.00152264	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722081	64722081	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:64722081C>T	ENST00000338957.4	+	5	1570	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	ZC3H12B_ENST00000423889.3_Silent_p.P490P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	490							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATTTCCCCCACCAGAAGG	0.567000													47	13					0	0	0.000781405	0	0
C1orf173	127254	broad.mit.edu	37	1	75086533	75086533	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:75086533C>T	ENST00000326665.5	-	8	1103	c.885G>A	c.(883-885)ggG>ggA	p.G295G	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.G98G	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	295								p.G295G(1)		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						GCACATTTTTCCCCAAATAGA	0.363000													11	15					0	0	0.000673444	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98492775	98492775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:98492775C>T	ENST00000265261.6	+	6	447	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Nonsense_Mutation_p.R95*|ST3GAL6_ENST00000468553.1_Nonsense_Mutation_p.R95*|ST3GAL6_ENST00000483910.1_Nonsense_Mutation_p.R95*	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	95					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	p.R95*(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGAATATTTTCGACTTGCTCT	0.378000													26	48					0	0	0.001512	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401533	11401533	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:11401533T>A	ENST00000002596.5	-	2	1271	c.97A>T	c.(97-99)Aaa>Taa	p.K33*		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	33						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTCCCCGCTTTCCGCAGAAGC	0.706000													6	8					0	0	8.12818e-05	0	0
GDI2	2665	broad.mit.edu	37	10	5815815	5815815	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:5815815G>A	ENST00000380191.4	-	7	1099	c.809C>T	c.(808-810)tCt>tTt	p.S270F	GDI2_ENST00000380181.3_Missense_Mutation_p.S225F|GDI2_ENST00000380132.4_Missense_Mutation_p.S274F	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	270					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TTCTCCTTCAGATTTTACACC	0.313000													23	56					0	0	0.000375601	0	0
ZNF563	147837	broad.mit.edu	37	19	12429625	12429625	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:12429625G>A	ENST00000293725.5	-	4	1419	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACATACACTAGGATAAACAAA	0.413000													67	76					0	0	0.000781405	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646597	4646597	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:4646597G>A	ENST00000433935.1	+	6	1201		c.e6-1		ZMYND15_ENST00000573751.2_Splice_Site|ZMYND15_ENST00000269289.6_Splice_Site|ZMYND15_ENST00000592813.1_Splice_Site	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15								zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCTTCTCCAGAGGTGACCAG	0.542000													57	75					0	0	0.000781405	0	0
PPP1R11	6992	broad.mit.edu	37	6	30036459	30036459	+	Silent	SNP	C	C	T	rs140805312		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:30036459C>T	ENST00000376772.3	+	2	485	c.162C>T	c.(160-162)ggC>ggT	p.G54G	PPP1R11_ENST00000376769.2_Silent_p.G2G|PPP1R11_ENST00000376765.2_Silent_p.G2G|PPP1R11_ENST00000376773.1_Silent_p.G2G|PPP1R11_ENST00000376763.1_Silent_p.G2G|PPP1R11_ENST00000376758.1_Silent_p.G2G	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	54						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AACACATGGGCCGCCGCTCAT	0.498000													31	59					0	0	0.00178596	0	0
ZFP64	55734	broad.mit.edu	37	20	50701609	50701609	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:50701609C>T	ENST00000361387.2	-	9	1485	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.Q256Q	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCCGGCCCTGGAAGGCAC	0.627000													25	60					0	0	0.000720815	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022597	20022597	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:20022597A>T	ENST00000440926.1	-	10	1350	c.880T>A	c.(880-882)Ttt>Att	p.F294I	SLC18A1_ENST00000276373.5_Missense_Mutation_p.F294I|SLC18A1_ENST00000437980.1_Missense_Mutation_p.F294I|SLC18A1_ENST00000381608.4_Missense_Mutation_p.F294I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.F294I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.F294I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	294					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGAAGCATAAAGAGGGGAGTC	0.498000													28	33					0	0	0.000409698	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605601	159605601	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:159605601A>T	ENST00000337808.6	+	5	1678	c.1101A>T	c.(1099-1101)gaA>gaT	p.E367D	IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E416D|SCHIP1_ENST00000482804.1_Missense_Mutation_p.E140D|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E443D|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.E327D|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E354D|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.E135D|SCHIP1_ENST00000445224.2_Missense_Mutation_p.E124D	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		367						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGCAAGCTGAAGCCAAAATGG	0.443000													49	72					0	0	0.000781405	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:108672495C>T	ENST00000261047.3	-	1	247	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000													46	60					0	0	0.000781405	0	0
EGFR	1956	broad.mit.edu	37	7	55268067	55268067	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:55268067C>T	ENST00000275493.2	+	24	3084	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.S916S|EGFR_ENST00000455089.1_Silent_p.S924S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	969	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGAATTCTCCAAAATGGCCC	0.483000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	41					0	0	0.000437636	0	0
GPR108	56927	broad.mit.edu	37	19	6733031	6733031	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6733031G>A	ENST00000264080.7	-	10	926	c.900C>T	c.(898-900)gcC>gcT	p.A300A	GPR108_ENST00000430424.4_Silent_p.A58A	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	300						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCTTGGTGAAGGCCAAGGCCG	0.637000													3	7					0	0	6.4e-05	0	0
FGA	2243	broad.mit.edu	37	4	155507586	155507586	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:155507586C>T	ENST00000302053.3	-	5	1073	c.995G>A	c.(994-996)gGa>gAa	p.G332E	FGA_ENST00000403106.3_Missense_Mutation_p.G332E	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	332					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTCCAGCTTCCAGTACTTCC	0.567000													10	20					0	0	0.00185496	0	0
CEP72	55722	broad.mit.edu	37	5	639225	639225	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:639225G>A	ENST00000264935.5	+	8	1318	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	410					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCACACTCGGCTCTACCCGG	0.642000													18	30					0	0	0.000566183	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976015	29976015	+	RNA	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29976015T>C	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							ACATGAGGCATAACGAGGTCC	0.587000													7	12					0	0	8.12818e-05	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884232	205884232	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:205884232G>A	ENST00000367134.2	-	22	2565	c.2452C>T	c.(2452-2454)Ctg>Ttg	p.L818L	SLC26A9_ENST00000340781.4_Silent_p.L818L|SLC26A9_ENST00000367135.3_3'UTR	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATTGCGGCCAGGGCCTGACGG	0.612000													44	43					0	0	0.000781405	0	0
IGSF22	283284	broad.mit.edu	37	11	18730970	18730970	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:18730970C>T	ENST00000513874.1	-	18	3101	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	887										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTGTCTAGCTCCACAGGCTCC	0.577000													36	8					0	0	0.00170553	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359844	77359844	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:77359844G>A	ENST00000282849.5	-	13	2369	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTTGAGCCCGAAAATCCAAG	0.423000													9	3					0	0	0.000274275	0	0
OR7D2	162998	broad.mit.edu	37	19	9296799	9296799	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9296799C>T	ENST00000344248.2	+	1	521	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	114					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACACGCTACTCCTGACCGTGA	0.507000													52	81					0	0	0.000781405	0	0
SEPT6	23157	broad.mit.edu	37	X	118786967	118786967	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:118786967G>A	ENST00000394610.1	-	4	642	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SEPT6_ENST00000354416.3_Silent_p.F126F|SEPT6_ENST00000354228.4_Silent_p.F126F|SEPT6_ENST00000489216.1_Silent_p.F126F|SEPT6_ENST00000394616.4_Silent_p.F68F|SEPT6_ENST00000394617.2_Silent_p.F156F|SEPT6_ENST00000343984.5_Silent_p.F126F|SEPT6_ENST00000360156.7_Silent_p.F126F	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	126					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTAGGCCTCGAATTGTGCAT	0.502000			T	MLL	AML								36	6					0	0	0.000437636	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879190	53879190	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:53879190C>T	ENST00000267079.2	-	6	1017	c.792G>A	c.(790-792)aaG>aaA	p.K264K	MAP3K12_ENST00000547488.1_Silent_p.K297K|MAP3K12_ENST00000547035.1_Silent_p.K297K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	264	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCTTGGTGCTCTTGTCACTCA	0.517000													154	18					0	0	0.000781405	0	0
FHL5	9457	broad.mit.edu	37	6	97052706	97052706	+	Silent	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:97052706T>C	ENST00000326771.2	+	4	620	c.240T>C	c.(238-240)ccT>ccC	p.P80P	FHL5_ENST00000541107.1_Silent_p.P80P	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	80	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGGAAAAGCCTTTTGCTGCCA	0.488000													27	11					0	0	0.00178596	0	0
KLHL6	89857	broad.mit.edu	37	3	183217613	183217613	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:183217613G>A	ENST00000341319.3	-	4	947	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	304										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCCGAAATGATCTGGAAAT	0.522000													7	10					0	0	8.12818e-05	0	0
SYT16	83851	broad.mit.edu	37	14	62463105	62463105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:62463105G>A	ENST00000430451.2	+	1	565	c.368G>A	c.(367-369)tGg>tAg	p.W123*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.W123*	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	123										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATGTCCCAGTGGCCCAATTGG	0.463000													9	13					0	0	0.000442599	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917573	156917573	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:156917573C>T	ENST00000368194.3	-	25	3368	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E153K|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E737K	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	737	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGATGACCTCTTGCCGGTCA	0.572000													33	23					0	0	0.000692331	0	0
GRIK2	2898	broad.mit.edu	37	6	102134192	102134192	+	Silent	SNP	G	G	A	rs145542805	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:102134192G>A	ENST00000369138.1	+	6	1405	c.915G>A	c.(913-915)ccG>ccA	p.P305P	GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000369137.3_Silent_p.P305P|GRIK2_ENST00000421544.1_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000369134.4_Silent_p.P256P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	305					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)	AGGCACCTCCGAAACCCGATT	0.393000													26	5					0	0	0.00127121	0	0
PAPOLG	64895	broad.mit.edu	37	2	61002230	61002230	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:61002230C>T	ENST00000238714.3	+	8	915	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	222					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTAGACTCACCCTAAGAGCTG	0.323000													12	45					0	0	0.00185496	0	0
OR5T1	390155	broad.mit.edu	37	11	56043769	56043769	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56043769G>A	ENST00000313033.2	+	1	741	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGGCTCTATTGAGATAGTCAC	0.413000													31	52					0	0	0.000339439	0	0
FUT10	84750	broad.mit.edu	37	8	33230301	33230301	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:33230301C>T	ENST00000327671.5	-	5	1865	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	FUT10_ENST00000518672.1_Missense_Mutation_p.E384K|FUT10_ENST00000524021.1_Missense_Mutation_p.E384K	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	412					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCTTCTGCCTCCCATCTTTTG	0.453000													16	14					0	0	0.000566183	0	0
ZNF320	162967	broad.mit.edu	37	19	53384412	53384412	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53384412G>A	ENST00000595635.1	-	8	1468	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H323Y	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAGTGTGAACTCTACGA	0.408000													21	39					0	0	0.00152264	0	0
KMT2E	55904	broad.mit.edu	37	7	104741913	104741913	+	Silent	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:104741913T>C	ENST00000334877.4	+	16	2298	c.1764T>C	c.(1762-1764)ttT>ttC	p.F588F	KMT2E_ENST00000257745.4_Silent_p.F588F|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.F588F					lysine (K)-specific methyltransferase 2E																		TGCAAGCTTTTGCCAGACTTG	0.313000													30	39					0	0	0.000339439	0	0
ZNF345	25850	broad.mit.edu	37	19	37368586	37368586	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:37368586C>T	ENST00000529555.1	+	2	1642	c.854C>T	c.(853-855)cCt>cTt	p.P285L	ZNF345_ENST00000589046.1_Missense_Mutation_p.P285L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.P285L|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	285					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGAGAAACCTTATGTATGT	0.408000													23	39					0	0	0.000878237	0	0
ACAN	176	broad.mit.edu	37	15	89392722	89392722	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:89392722G>A	ENST00000439576.2	+	10	2160	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ACAN_ENST00000561243.1_Missense_Mutation_p.E596K|ACAN_ENST00000559004.1_Missense_Mutation_p.E596K|ACAN_ENST00000558207.1_Missense_Mutation_p.E596K|ACAN_ENST00000352105.7_Missense_Mutation_p.E596K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	596					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAAGCACTGGAGTTCTGTGA	0.632000													6	12					0	0	8.12818e-05	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917580	46917580	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:46917580C>T	ENST00000378797.2	-	14	2379	c.1775G>A	c.(1774-1776)gGt>gAt	p.G592D	KIAA0226L_ENST00000378787.3_Missense_Mutation_p.G592D|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Silent_p.R486R|KIAA0226L_ENST00000389908.3_Silent_p.R643R|KIAA0226L_ENST00000429979.1_Silent_p.R643R|KIAA0226L_ENST00000378784.4_Silent_p.R576R|KIAA0226L_ENST00000409879.2_Silent_p.R486R|KIAA0226L_ENST00000534925.1_Silent_p.R508R			Q9H714	CM018_HUMAN	KIAA0226-like	0										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCTCGCACACCGGGGGCACT	0.517000													7	19					0	0	0.000157383	0	0
GH2	2689	broad.mit.edu	37	17	61957616	61957616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:61957616G>A	ENST00000456543.2	-	5	755	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	GH2_ENST00000449787.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000423893.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGTGGGCACTGGAGTAGCACC	0.552000													16	13					0	0	0.000308642	0	0
HAPLN2	60484	broad.mit.edu	37	1	156594495	156594495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:156594495G>A	ENST00000255039.1	+	6	1066	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	220	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCGAGGCCGGCCCGGGATC	0.741000													6	10					0	0	0.00116845	0	0
POLE	5426	broad.mit.edu	37	12	133225520	133225520	+	Missense_Mutation	SNP	G	G	A	rs5744904		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:133225520G>A	ENST00000320574.5	-	32	4187	c.4144C>T	c.(4144-4146)Cgc>Tgc	p.R1382C	POLE_ENST00000535270.1_Missense_Mutation_p.R1355C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1382			R -> C (in dbSNP:rs5744904).		base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTACCTTGCGATACGAAGCA	0.602000								DNA polymerases (catalytic subunits)					55	9					0	0	0.000781405	0	0
ITGB4	3691	broad.mit.edu	37	17	73746842	73746842	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73746842C>T	ENST00000200181.3	+	29	3743	c.3556C>T	c.(3556-3558)Ctg>Ttg	p.L1186L	ITGB4_ENST00000339591.3_Silent_p.L1186L|ITGB4_ENST00000579662.1_Silent_p.L1186L|ITGB4_ENST00000449880.2_Silent_p.L1186L|ITGB4_ENST00000450894.3_Silent_p.L1186L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1186	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACCAACCTGTACCCGTA	0.617000													26	57					0	0	0.001512	0	0
DNAH5	1767	broad.mit.edu	37	5	13753464	13753464	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:13753464C>T	ENST00000265104.4	-	63	10854	c.10750G>A	c.(10750-10752)Gat>Aat	p.D3584N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3584	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAGTCATCATTTGGCAGA	0.388000									Kartagener syndrome				12	29					0	0	0.000978159	0	0
KIAA1467	57613	broad.mit.edu	37	12	13219709	13219709	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:13219709C>T	ENST00000197268.8	+	6	1108	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	330						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTCTACATCCTGTTTGGCTT	0.493000													30	5					0	0	0.00058488	0	0
HEATR5B	54497	broad.mit.edu	37	2	37285625	37285625	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:37285625G>A	ENST00000233099.5	-	14	2123	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	HEATR5B_ENST00000354531.2_Silent_p.I676I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	676							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAAAGCCAAGATATCATAAA	0.318000													24	36					0	0	0.000720815	0	0
KAT2B	8850	broad.mit.edu	37	3	20193934	20193934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:20193934G>T	ENST00000263754.4	+	18	2871	c.2416G>T	c.(2416-2418)Gag>Tag	p.E806*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	806	Bromo.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAACCCCCCTGAGAGTGAATA	0.393000													12	19					4.3838e-07	2.78009e-06	0.00185496	1	0
MYO1D	4642	broad.mit.edu	37	17	30821872	30821872	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:30821872T>A	ENST00000318217.5	-	22	3230	c.2926A>T	c.(2926-2928)Aag>Tag	p.K976*	MYO1D_ENST00000394649.4_Nonsense_Mutation_p.K888*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	976						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGGTGCACTTCTTCCCGTGC	0.612000													6	19					0	0	8.12818e-05	0	0
FLT3	2322	broad.mit.edu	37	13	28622539	28622539	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:28622539C>T	ENST00000380982.4	-	9	1159	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	FLT3_ENST00000537084.1_Missense_Mutation_p.E360K|FLT3_ENST00000241453.7_Missense_Mutation_p.E360K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	360					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTCAATTTCATAATCTTCA	0.323000			"""Mis, O"""		"""AML, ALL"""								29	27					0	0	0.00106085	0	0
ARSA	410	broad.mit.edu	37	22	51064664	51064664	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:51064664G>A	ENST00000547307.1	-	5	1296	c.891C>T	c.(889-891)ctC>ctT	p.L297L	ARSA_ENST00000547805.1_Silent_p.L297L|ARSA_ENST00000395621.3_Silent_p.L299L|ARSA_ENST00000453344.2_Silent_p.L213L|ARSA_ENST00000216124.5_Silent_p.L299L|ARSA_ENST00000395619.3_Silent_p.L299L|ARSA_ENST00000356098.5_Silent_p.L299L			P15289	ARSA_HUMAN	arylsulfatase A	297						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CACACCGCAAGAGACCGGAGC	0.652000													14	15					0	0	0.000219431	0	0
C2orf16	84226	broad.mit.edu	37	2	27801313	27801313	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27801313G>A	ENST00000408964.2	+	1	1925	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	625										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTAGAATCAGGAATTGAAGCA	0.423000													18	24					0	0	0.00074312	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546307	112546307	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:112546307G>A	ENST00000488794.1	-	5	863	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	CD200R1L_ENST00000398214.1_Missense_Mutation_p.R113C|CD200R1L_ENST00000448932.1_Missense_Mutation_p.R92C			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	113	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TCCACCGGACGAATCTGAAGG	0.458000													33	30					0	0	0.000491102	0	0
ARMCX1	51309	broad.mit.edu	37	X	100807961	100807961	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:100807961C>T	ENST00000372829.3	+	4	419	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	16						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GTGTGGTTATCGGGGCTGGTG	0.572000													26	5					0	0	0.000878237	0	0
IL12B	3593	broad.mit.edu	37	5	158753751	158753751	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:158753751C>T	ENST00000231228.2	-	2	495	c.40G>A	c.(40-42)Gtt>Att	p.V14I		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	14					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAGAAAAACCAGGGAAAAC	0.488000													26	40					0	0	0.001512	0	0
LRCH4	4034	broad.mit.edu	37	7	100175320	100175320	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100175320G>A	ENST00000310300.6	-	9	1135	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	361					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCCCGGGGACATGGCTGT	0.662000													45	75					0	0	0.000781405	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249246	90249246	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:90249246C>T	ENST00000468879.1	+	0	383																											AGCCCCTAAGCTCTTCATCTA	0.502000													47	61					0	0	0.000781405	0	0
MACF1	23499	broad.mit.edu	37	1	39824417	39824417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:39824417C>T	ENST00000564288.1	+	46	12769	c.11992C>T	c.(11992-11994)Caa>Taa	p.Q3998*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4035*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q1936*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q1936*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2438*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q1936*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q4003*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q1936*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4003					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGTATCATCAATTCCAAAA	0.507000													29	40					0	0	0.00106085	0	0
DNAH7	56171	broad.mit.edu	37	2	196689005	196689005	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:196689005G>A	ENST00000312428.6	-	49	9365	c.9265C>T	c.(9265-9267)Cat>Tat	p.H3089Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3089	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAGATAATGAGGATTTCTT	0.368000													20	38					0	0	0.00188189	0	0
GPALPP1	55425	broad.mit.edu	37	13	45594491	45594491	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:45594491C>T	ENST00000361121.2	+	7	767	c.732C>T	c.(730-732)tcC>tcT	p.S244S	KIAA1704_ENST00000357537.3_Silent_p.S74S|KIAA1704_ENST00000379151.4_Silent_p.S244S|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		244										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GGAAGTCATCCAGTAAGAAAG	0.299000													64	96					0	0	0.000781405	0	0
PDE8B	8622	broad.mit.edu	37	5	76645346	76645346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:76645346C>T	ENST00000264917.5	+	8	1024	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	PDE8B_ENST00000342343.4_Missense_Mutation_p.L307F|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.L327F	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	327	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCGGGCAGACCTTCTCGACAC	0.493000													47	75					0	0	0.000781405	0	0
VAV1	7409	broad.mit.edu	37	19	6820766	6820766	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6820766C>T	ENST00000304076.2	+	2	352	c.258C>T	c.(256-258)ttC>ttT	p.F86F	VAV1_ENST00000599806.1_Silent_p.F31F|VAV1_ENST00000596764.1_Silent_p.F86F|VAV1_ENST00000539284.1_Silent_p.F21F|VAV1_ENST00000602142.1_Silent_p.F86F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	86	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAGAAGTTCGGCCTCAAGC	0.522000													51	76					0	0	0.000781405	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026412	129026412	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:129026412G>A	ENST00000259241.6	-	2	573	c.560C>T	c.(559-561)cCc>cTc	p.P187L		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	187	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCGGGACACGGGGTCTCGTAG	0.632000													19	23					0	0	0.00121646	0	0
SETBP1	26040	broad.mit.edu	37	18	42530559	42530559	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:42530559G>A	ENST00000282030.5	+	4	1550	c.1254G>A	c.(1252-1254)agG>agA	p.R418R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGAC	0.453000									Schinzel-Giedion syndrome				26	41					0	0	0.00106085	0	0
CD2AP	23607	broad.mit.edu	37	6	47541941	47541941	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47541941G>A	ENST00000359314.5	+	6	1139	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	228					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTGAAACTTCGGACAAGAACA	0.378000													59	43					0	0	0.000781405	0	0
IFNG	3458	broad.mit.edu	37	12	68551714	68551714	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:68551714G>A	ENST00000229135.3	-	3	476	c.345C>T	c.(343-345)ttC>ttT	p.F115F	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	115					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.F115F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	TCAGCTTTTCGAAGTCATCTC	0.368000													69	15					0	0	0.000781405	0	0
PHYH	5264	broad.mit.edu	37	10	13323103	13323103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:13323103G>A	ENST00000396920.3	-	8	1189	c.785C>T	c.(784-786)tCc>tTc	p.S262F	PHYH_ENST00000396913.2_Missense_Mutation_p.S179F|PHYH_ENST00000263038.4_Missense_Mutation_p.S279F			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	279					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GAAATGGCAGGAAATTGCCTG	0.403000													16	37					0	0	0.000958276	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410671	204410671	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:204410671G>A	ENST00000367187.3	-	22	3733	c.3177C>T	c.(3175-3177)tcC>tcT	p.S1059S	PIK3C2B_ENST00000424712.2_Silent_p.S1031S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1059					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGACAGCATTGGAGTTGAAGT	0.502000													59	27					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61955965	61955965	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:61955965C>G	ENST00000280772.1	-	16	2016	c.1825G>C	c.(1825-1827)Gat>Cat	p.D609H	ANK3_ENST00000373827.2_Missense_Mutation_p.D603H|ANK3_ENST00000503366.1_Missense_Mutation_p.D592H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	609					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTGATTATCGTAATGTGCA	0.483000													14	18					0	0	0.000219431	0	0
CCDC178	374864	broad.mit.edu	37	18	30926194	30926194	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:30926194G>A	ENST00000383096.3	-	9	821	c.639C>T	c.(637-639)ctC>ctT	p.L213L	CCDC178_ENST00000300227.8_Silent_p.L213L|CCDC178_ENST00000579947.1_Silent_p.L213L|CCDC178_ENST00000583930.1_Silent_p.L213L|CCDC178_ENST00000403303.1_Silent_p.L213L|CCDC178_ENST00000402325.1_Silent_p.L213L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Silent_p.L213L					coiled-coil domain containing 178																		CAGCCAATGGGAGTTCTTGAA	0.348000													22	43					0	0	0.000375601	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726062	53726062	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:53726062G>A	ENST00000262135.4	-	4	538	c.445C>T	c.(445-447)Cca>Tca	p.P149S	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P149S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.P149S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P149S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	149					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTATTGTATGGAGTTTGCCTG	0.393000													203	350					0	0	0.000781405	0	0
TC2N	123036	broad.mit.edu	37	14	92268723	92268723	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:92268723G>A	ENST00000435962.2	-	4	667	c.344C>T	c.(343-345)tCc>tTc	p.S115F	TC2N_ENST00000340892.5_Missense_Mutation_p.S115F|TC2N_ENST00000360594.5_Missense_Mutation_p.S115F|TC2N_ENST00000556018.1_Missense_Mutation_p.S115F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	115						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGATGAACTGGAAAGTTCTAC	0.413000													11	31					0	0	0.000219431	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579685	44579685	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:44579685G>A	ENST00000289547.4	-	2	366	c.311C>T	c.(310-312)tCg>tTg	p.S104L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S104L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S104L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.S104L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	104					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTTGGTGATCGACAGACTCGC	0.587000													12	22					0	0	0.000308642	0	0
ASXL3	80816	broad.mit.edu	37	18	31318854	31318854	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:31318854G>A	ENST00000269197.5	+	11	1486	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	496					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						AGCACCTCCTGAAGATAACTT	0.388000													14	20					0	0	0.000422831	0	0
WNT4	54361	broad.mit.edu	37	1	22456166	22456166	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22456166G>C	ENST00000290167.6	-	2	299	c.256C>G	c.(256-258)Cgc>Ggc	p.R86G	WNT4_ENST00000542383.1_Missense_Mutation_p.R31G	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	86					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAGTTCCAGCGCCGGTTCCGG	0.662000													9	26					0	0	0.000274275	0	0
BIRC3	330	broad.mit.edu	37	11	102207520	102207520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:102207520G>A	ENST00000263464.3	+	8	4359	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	BIRC3_ENST00000532808.1_Missense_Mutation_p.E537K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	537					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATTCCCACAGAAGATGTTTC	0.269000			T	MALT1	MALT								26	34					0	0	0.001512	0	0
EN1	2019	broad.mit.edu	37	2	119604387	119604387	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:119604387C>T	ENST00000295206.6	-	1	867	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	119					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGGCTGCTCCTTTTTGCAGC	0.677000													24	46					0	0	0.000720815	0	0
FBXO38	81545	broad.mit.edu	37	5	147796606	147796606	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:147796606C>T	ENST00000340253.5	+	12	1625	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	FBXO38_ENST00000296701.6_Missense_Mutation_p.S486L|FBXO38_ENST00000513826.1_Missense_Mutation_p.S486L|FBXO38_ENST00000394370.3_Missense_Mutation_p.S486L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	486						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTTTCATCAGCTCTTGTT	0.413000													5	15					0	0	8.12818e-05	0	0
IL12RB1	3594	broad.mit.edu	37	19	18180356	18180356	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:18180356C>T	ENST00000600835.1	-	11	1492	c.1189_splice	c.e11+1	p.A397_splice	IL12RB1_ENST00000593993.1_Splice_Site_p.A397_splice|IL12RB1_ENST00000430026.2_Splice_Site_p.A397_splice			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	397	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGCCATTACCCATTCCAGCC	0.622000													7	10					0	0	8.12818e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11058331	11058331	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:11058331G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGCTGAAAGGGGTAAAGGAG	0.378000													10	107					0	0	0.00136819	0	0
UNC13C	440279	broad.mit.edu	37	15	54306557	54306557	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:54306557C>T	ENST00000545554.1	+	1	1457	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S486L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S486L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	486					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCTCAAAATCACACAGTGCT	0.378000													13	18					0	0	0.00136819	0	0
TFPT	29844	broad.mit.edu	37	19	54611338	54611338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54611338C>T	ENST00000391759.1	-	5	1042	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	TFPT_ENST00000391757.1_3'UTR|TFPT_ENST00000391758.1_Missense_Mutation_p.V204M|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	213					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCACCTGCACCGGGGCCAGC	0.711000			T	TCF3	pre-B ALL								18	40					0	0	0.000295444	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900428	151900428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:151900428G>A	ENST00000393900.3	-	3	726	c.373C>T	c.(373-375)Cga>Tga	p.R125*	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Nonsense_Mutation_p.R125*|MAGEA12_ENST00000393869.3_Nonsense_Mutation_p.R125*	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	125	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGGCTCGATACTTGAGG	0.498000													52	12					0	0	0.000781405	0	0
SZT2	23334	broad.mit.edu	37	1	43907442	43907442	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:43907442C>T	ENST00000562955.1	+	54	7524	c.7524C>T	c.(7522-7524)gtC>gtT	p.V2508V	SZT2_ENST00000372442.1_Silent_p.V1666V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2565						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCGCACTGGTCACCTCAATGG	0.527000													19	37					0	0	0.00121646	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38590622	38590622	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38590622C>T	ENST00000222345.6	+	5	2195	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	562					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCGGGGCTCCATCCTGGAAG	0.572000													22	29					0	0	0.000586117	0	0
SI	6476	broad.mit.edu	37	3	164773008	164773008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:164773008C>T	ENST00000264382.3	-	13	1548	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	496	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTGCACTTCTTGATGGAAA	0.348000										HNSCC(35;0.089)			8	23					0	0	0.000274275	0	0
SNRPN	6638	broad.mit.edu	37	15	25220561	25220561	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:25220561C>T	ENST00000444203.2	+	3	1111	c.72C>T	c.(70-72)atC>atT	p.I24I	SNRPN_ENST00000554227.2_Silent_p.I24I|SNRPN_ENST00000400097.1_Silent_p.I20I|SNRPN_ENST00000390687.4_Silent_p.I20I|SNRPN_ENST00000346403.6_Silent_p.I20I|SNRPN_ENST00000400098.1_Silent_p.I20I|SNRPN_ENST00000400100.1_Silent_p.I20I|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Silent_p.I20I			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	20					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGAGATGTATCCTGCAAGATG	0.423000									Prader-Willi syndrome				33	60					0	0	0.00058488	0	0
ANK1	286	broad.mit.edu	37	8	41530158	41530158	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:41530158C>T	ENST00000396942.1	-	38	4893	c.4810G>A	c.(4810-4812)Ggg>Agg	p.G1604R	ANK1_ENST00000289734.7_Missense_Mutation_p.G1604R|ANK1_ENST00000396945.1_Missense_Mutation_p.G1604R|ANK1_ENST00000265709.8_Missense_Mutation_p.G1645R|ANK1_ENST00000347528.4_Missense_Mutation_p.G1604R|ANK1_ENST00000379758.2_Missense_Mutation_p.G1604R|ANK1_ENST00000352337.4_Missense_Mutation_p.G1604R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1604	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGAGTGCCCCCTCCAACTTC	0.582000													45	68					0	0	0.000781405	0	0
CCDC37	348807	broad.mit.edu	37	3	126155162	126155162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:126155162G>A	ENST00000393425.1	+	17	1853	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.R585Q|CCDC37_ENST00000352312.1_Missense_Mutation_p.R584Q			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	584										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGCCGCTCACGACCCCCAGCC	0.547000													14	18					0	0	0.000308642	0	0
ATG2B	55102	broad.mit.edu	37	14	96797765	96797765	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:96797765A>T	ENST00000359933.4	-	11	2571	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	560										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGACTTAAAATCTTCTGTT	0.378000													19	45					0	0	0.00074312	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197920	19197920	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:19197920G>A	ENST00000263200.10	-	20	3237	c.3165C>T	c.(3163-3165)atC>atT	p.I1055I	CLTCL1_ENST00000353891.5_Silent_p.I1055I|CLTCL1_ENST00000427926.1_Silent_p.I1055I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1055	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CGATGCTCGCGATGTCCAGTG	0.537000			T	?	ALCL								31	28					0	0	0.000409698	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855806	62855806	+	Silent	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:62855806G>T	ENST00000584306.1	-	11	4988	c.4458C>A	c.(4456-4458)ccC>ccA	p.P1486P	LRRC37A3_ENST00000319651.5_Silent_p.P1486P|LRRC37A3_ENST00000339474.5_Silent_p.P604P|LRRC37A3_ENST00000334962.5_Silent_p.P463P|LRRC37A3_ENST00000400877.3_Silent_p.P524P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1486						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTGTTGTTGGGGATAACGG	0.527000													10	316					0.000673444	0.00423727	0.000673444	1	0
TRPC7	57113	broad.mit.edu	37	5	135602072	135602072	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:135602072G>A	ENST00000513104.1	-	5	1463	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	TRPC7_ENST00000355180.3_Missense_Mutation_p.S333F|TRPC7_ENST00000426057.2_Missense_Mutation_p.S278F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	394					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.S394Y(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTGTAAAAGAAACTGCATG	0.408000													13	12					0	0	0.00136819	0	0
GAS7	8522	broad.mit.edu	37	17	9850238	9850238	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:9850238G>A	ENST00000396115.1	-	6	718	c.408C>T	c.(406-408)acC>acT	p.T136T	GAS7_ENST00000585266.1_Silent_p.T132T|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.T132T|GAS7_ENST00000542249.1_Silent_p.T141T|GAS7_ENST00000437099.2_Silent_p.T132T|GAS7_ENST00000583882.1_Silent_p.T56T|GAS7_ENST00000580865.1_Silent_p.T56T|GAS7_ENST00000432992.2_Silent_p.T196T|GAS7_ENST00000579158.1_Silent_p.T148T	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	196					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.T196T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCTCCACTCGGTTGGTTTCA	0.582000			T	MLL	AML*								13	11					0	0	0.000566183	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594068	7594068	+	Silent	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:7594068C>A	ENST00000342415.5	+	2	317	c.258C>A	c.(256-258)acC>acA	p.T86T		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	86					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGCTATACCAAAGAAGAAG	0.323000													7	152					0.000157383	0.000993792	0.000157383	1	0
OBSCN	84033	broad.mit.edu	37	1	228504468	228504468	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:228504468G>A	ENST00000570156.2	+	62	16289	c.16215G>A	c.(16213-16215)caG>caA	p.Q5405Q	OBSCN_ENST00000284548.11_Silent_p.Q4448Q|OBSCN_ENST00000366707.4_Silent_p.Q2082Q|OBSCN_ENST00000422127.1_Silent_p.Q4448Q|OBSCN_ENST00000366709.4_Silent_p.Q1567Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4448	Ig-like 51.				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)				CCGGCGCACAGGCATGCTTCA	0.672000													21	10					0	0	0.00188189	0	0
SLK	9748	broad.mit.edu	37	10	105727572	105727572	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105727572C>A	ENST00000369755.3	+	1	614	c.69C>A	c.(67-69)caC>caA	p.H23Q	SLK_ENST00000335753.4_Missense_Mutation_p.H23Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	23					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGTACGAACACGTGAAGAGGG	0.483000													33	39					2.80507e-11	1.79439e-10	0.000409698	1	0
HYDIN	54768	broad.mit.edu	37	16	71015398	71015398	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:71015398C>T	ENST00000393567.2	-	29	4556	c.4406G>A	c.(4405-4407)aGg>aAg	p.R1469K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1469										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGGAAACTCCTTTTAAAGAC	0.478000													49	52					0	0	0.000781405	0	0
HIP1	3092	broad.mit.edu	37	7	75182832	75182832	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:75182832G>A	ENST00000336926.6	-	22	2241	c.2215C>T	c.(2215-2217)Ctg>Ttg	p.L739L	HIP1_ENST00000434438.2_Silent_p.L739L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	739					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCTTCCTCCAGGGAGGCCAGG	0.527000			T	PDGFRB	CMML								38	36					0	0	0.00128727	0	0
RGPD4	285190	broad.mit.edu	37	2	108487596	108487596	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:108487596G>A	ENST00000408999.3	+	20	3213	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1046K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1046	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAAATGCCTGAAAAAGTAGA	0.388000													110	159					0	0	0.000781405	0	0
CBX2	84733	broad.mit.edu	37	17	77758386	77758386	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:77758386C>T	ENST00000310942.4	+	5	1248	c.1144C>T	c.(1144-1146)Ccg>Tcg	p.P382S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	382					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAAGGGTGTCCCGGCCACCAA	0.662000													13	43					0	0	0.000422831	0	0
MYO7A	4647	broad.mit.edu	37	11	76892447	76892447	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:76892447C>T	ENST00000409709.3	+	23	2988	c.2716C>T	c.(2716-2718)Cgt>Tgt	p.R906C	MYO7A_ENST00000409619.2_Missense_Mutation_p.R895C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R906C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R906C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	906					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGCTGGCTCGTGAGGACGC	0.652000													5	4					0	0	0.000602214	0	0
DNAH3	55567	broad.mit.edu	37	16	21048047	21048047	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:21048047T>C	ENST00000261383.3	-	35	5073	c.5074A>G	c.(5074-5076)Aaa>Gaa	p.K1692E	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1692E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1692	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGATAATTTTCCCTATAAAC	0.383000													40	60					0	0	0.000680045	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719684	77719684	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:77719684G>A	ENST00000298351.4	+	23	2329	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	729						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GTTTGACATGGAGCCAAGCAG	0.612000													9	9					0	0	0.00136819	0	0
OR4N2	390429	broad.mit.edu	37	14	20295867	20295867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20295867C>T	ENST00000568211.1	+	1	260	c.260C>T	c.(259-261)tCt>tTt	p.S87F	OR4N2_ENST00000315947.1_Missense_Mutation_p.S87F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTTCCTCTCTGCGAAGAAG	0.522000													32	107					0	0	0.00058488	0	0
APBB2	323	broad.mit.edu	37	4	40832494	40832494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:40832494C>T	ENST00000295974.8	-	13	2256	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Missense_Mutation_p.E544K|APBB2_ENST00000506352.1_Missense_Mutation_p.E522K|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000513140.1_Missense_Mutation_p.E522K|APBB2_ENST00000504305.1_5'UTR	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	543	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGCAGATCTCGTGGAGACTT	0.468000													18	21					0	0	0.000375601	0	0
PACS1	55690	broad.mit.edu	37	11	66010697	66010697	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:66010697C>T	ENST00000320580.4	+	24	2871	c.2838C>T	c.(2836-2838)ccC>ccT	p.P946P	PACS1_ENST00000529757.1_Silent_p.P482P|PACS1_ENST00000524815.1_Silent_p.P74P	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	946					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCCAGTGGCCCACCCATGTCA	0.607000													5	9					0	0	0.000602214	0	0
NOMO1	23420	broad.mit.edu	37	16	14970280	14970280	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:14970280C>T	ENST00000287667.7	+	21	2592	c.2421C>T	c.(2419-2421)atC>atT	p.I807I		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	807						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAGGCCAGATCCACCCCGAGT	0.507000													29	66					0	0	0.00058488	0	0
XRCC5	7520	broad.mit.edu	37	2	217001835	217001835	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:217001835C>T	ENST00000392133.3	+	13	1599	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	XRCC5_ENST00000392132.2_Silent_p.L380L|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	380	Ku.				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)		ACTTTCCTCCCTGATTCATGC	0.408000								Non-homologous end-joining					29	57					0	0	0.00178596	0	0
POLR3A	11128	broad.mit.edu	37	10	79739921	79739921	+	Silent	SNP	G	G	A	rs112788477		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:79739921G>A	ENST00000372371.3	-	30	4139	c.4002C>T	c.(4000-4002)ttC>ttT	p.F1334F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1334					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCTTCTGCCCGAAGTAGGCAG	0.493000													29	42					0	0	0.00058488	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306583	205306583	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:205306583C>T	ENST00000367156.3	-	9	1813	c.997G>A	c.(997-999)Ggt>Agt	p.G333S	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.G333S|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.G199S|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.G220S|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.G333S	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	333										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGTTGACACCTCCCACGGCG	0.592000													45	107					0	0	0.000589545	0	0
SLC25A18	83733	broad.mit.edu	37	22	18064158	18064158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:18064158G>A	ENST00000327451.5	+	5	716	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.G60S	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	60						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TCGGGCGGAGGGCTTCTTCGG	0.632000													23	50					0	0	0.000375601	0	0
HEXA	3073	broad.mit.edu	37	15	72668076	72668076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:72668076G>A	ENST00000268097.5	-	1	741	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.R80C|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.R80C	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	80					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGGTAAGGACGGGGCCAAGAC	0.657000													58	68					0	0	0.000781405	0	0
ZNF876P	642280	broad.mit.edu	37	4	248262	248262	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:248262C>T	ENST00000356347.3	+	0	1086					NR_027481.1																						GGTCCTCACACCTTACTGAAC	0.368000													7	8					0	0	8.12818e-05	0	0
ACADL	33	broad.mit.edu	37	2	211069406	211069406	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:211069406C>T	ENST00000233710.3	-	7	996	c.768_splice	c.e7-1	p.D257_splice	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	257					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCTGCGGTATCCTAAGAGACC	0.343000													12	11					0	0	0.00136819	0	0
CEP350	9857	broad.mit.edu	37	1	180003091	180003091	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:180003091T>G	ENST00000367607.3	+	16	4238	c.3820T>G	c.(3820-3822)Tct>Gct	p.S1274A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1274	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCAGGAACTTCTTCAGAAAG	0.448000													31	97					0	0	0.00178596	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737457	62737457	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:62737457C>T	ENST00000369768.1	-	1	1067	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	243						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGCGGAGCCGCACGGCCCG	0.667000													5	13					0	0	0.000602214	0	0
POLE2	5427	broad.mit.edu	37	14	50131859	50131859	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:50131859G>A	ENST00000539565.2	-	7	739	c.521C>T	c.(520-522)cCt>cTt	p.P174L	POLE2_ENST00000554396.1_Missense_Mutation_p.P200L|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.P200L	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	200					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGTTCCAGTAGGATCTTCCAG	0.284000													15	22					0	0	0.00121646	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924973	43924973	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:43924973G>A	ENST00000396879.1	-	12	1444	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	CATSPER2_ENST00000321596.5_Silent_p.V446V|CATSPER2_ENST00000354127.4_Silent_p.V444V|CATSPER2_ENST00000381761.1_Silent_p.V450V|CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	446	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		atgtggaggagacacaggagg	0.378000													41	61					0	0	0.00111076	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112035	64112035	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64112035G>A	ENST00000356786.5	+	14	2066	c.2022G>A	c.(2020-2022)acG>acA	p.T674T	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	674					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTGGCCACGGGACAAGCAG	0.642000													12	5					0	0	0.00136819	0	0
TTC3	7267	broad.mit.edu	37	21	38511016	38511016	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:38511016T>C	ENST00000399017.2	+	19	4406		c.e19+2		TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCCTGAGGTAAGATTTGTA	0.333000													27	39					0	0	0.000878237	0	0
SPP2	6694	broad.mit.edu	37	2	234969029	234969029	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:234969029G>A	ENST00000168148.3	+	4	438	c.350G>A	c.(349-351)aGa>aAa	p.R117K	SPP2_ENST00000373368.1_Missense_Mutation_p.R117K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	117					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCTGTTTGCAGAAGCACCGTG	0.512000													25	30					0	0	0.000720815	0	0
PDE1A	5136	broad.mit.edu	37	2	183104895	183104895	+	Missense_Mutation	SNP	C	C	T	rs145482728		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:183104895C>T	ENST00000435564.1	-	3	540	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.E114K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E10K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E80K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E114K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E98K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E98K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E114K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E114K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	114					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E114K(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTGGTTTTTCCTCAGGTTTC	0.418000													45	57					0	0	0.000781405	0	0
FADS2	9415	broad.mit.edu	37	11	61631251	61631251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:61631251G>T	ENST00000278840.4	+	10	1780	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	FADS2_ENST00000521849.1_Nonsense_Mutation_p.E384*|FADS2_ENST00000522056.1_Nonsense_Mutation_p.E353*|FADS2_ENST00000257261.6_Nonsense_Mutation_p.E362*	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	384					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CTTCCAGATTGAGCACCAGTG	0.622000													13	15					1.52009e-12	9.74517e-12	0.000308642	1	0
BRCA2	675	broad.mit.edu	37	13	32903615	32903615	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:32903615C>T	ENST00000544455.1	+	8	894	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.H223Y	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	223					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTATTTCCTCATGATACTAC	0.259000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			21	17					0	0	0.00188189	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993243	140993243	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:140993243C>T	ENST00000285879.4	+	4	339	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	18							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)					CTCCAGAGTTCCTCTGAGAGT	0.547000										HNSCC(15;0.026)			31	4					0	0	0.00058488	0	0
NETO1	81832	broad.mit.edu	37	18	70451049	70451049	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:70451049C>T	ENST00000327305.6	-	7	1389	c.732G>A	c.(730-732)gaG>gaA	p.E244E	NETO1_ENST00000583169.1_Silent_p.E244E|NETO1_ENST00000299430.2_Silent_p.E243E	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	244	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTTTCAAATCCTCCACGGAAC	0.448000													39	31					0	0	0.00148497	0	0
CCDC68	80323	broad.mit.edu	37	18	52608269	52608269	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:52608269C>T	ENST00000591504.1	-	4	437	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CCDC68_ENST00000337363.4_Missense_Mutation_p.E55K|CCDC68_ENST00000432185.1_Missense_Mutation_p.E55K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	55										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGTCTTATTTCATCTTTAAAC	0.323000													14	29					0	0	0.000219431	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334373	37334373	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:37334373C>T	ENST00000262825.5	+	14	2758	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	CSF2RB_ENST00000403662.3_Silent_p.S841S|CSF2RB_ENST00000406230.1_Silent_p.S847S|CSF2RB_ENST00000536485.1_Silent_p.S788S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	841					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACCTTCTTCCCCGGGACCCG	0.632000													64	78					0	0	0.000781405	0	0
OSCAR	126014	broad.mit.edu	37	19	54600243	54600243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54600243G>A	ENST00000391760.1	-	3	154	c.106C>T	c.(106-108)Cca>Tca	p.P36S	OSCAR_ENST00000391761.1_Silent_p.A82A|OSCAR_ENST00000356532.3_Silent_p.A97A|OSCAR_ENST00000358375.4_Silent_p.A93A|OSCAR_ENST00000359649.4_Silent_p.A97A|OSCAR_ENST00000284648.6_Silent_p.A93A|OSCAR_ENST00000351806.4_Silent_p.A82A			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0	Ig-like 1.					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)					TTCCCCCTTGGGCTGGAGTCA	0.602000													17	17					0	0	0.00074312	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20858948	20858948	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:20858948G>A	ENST00000381552.1	+	4	705	c.337G>A	c.(337-339)Gga>Aga	p.G113R	SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G113R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G113R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G113R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	113					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAAAATAATTGGAGCAGGGTG	0.383000													123	28					0	0	0.000781405	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117481	99117481	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:99117481C>T	ENST00000394170.2	+	4	836	c.585C>T	c.(583-585)ccC>ccT	p.P195P	ZKSCAN5_ENST00000451158.1_Silent_p.P195P|ZKSCAN5_ENST00000326775.5_Silent_p.P195P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTTCCCTTCCCCTGAAGGACA	0.532000													38	55					0	0	0.000781405	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950676	127950676	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:127950676C>T	ENST00000335247.7	-	7	1126	c.996G>A	c.(994-996)gtG>gtA	p.V332V	CYP27C1_ENST00000409327.1_Silent_p.V332V	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	332						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTACCTGGATCACGACGAGGT	0.512000													17	19					0	0	0.000958276	0	0
ATP1A2	477	broad.mit.edu	37	1	160105253	160105253	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:160105253G>A	ENST00000361216.3	+	16	2234	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.G715G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	715			G -> R (in FHM2; de novo mutation in a sporadic case).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGGTGACGGGGTGAACGACT	0.602000													40	32					0	0	0.000589545	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551666	1551666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:1551666C>T	ENST00000381605.4	-	4	933	c.869G>A	c.(868-870)gGa>gAa	p.G290E	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	290	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGACACATTTCCATTCTCCAA	0.552000													14	30					0	0	0.000219431	0	0
FAM24A	118670	broad.mit.edu	37	10	124672372	124672372	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:124672372G>A	ENST00000368894.1	+	3	341	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	74						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CACCACCATGGAGTCTTGTCC	0.512000													31	33					0	0	0.000409698	0	0
LPGAT1	9926	broad.mit.edu	37	1	211952371	211952371	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:211952371C>T	ENST00000366997.4	-	6	969	c.743G>A	c.(742-744)gGc>gAc	p.G248D	LPGAT1_ENST00000366996.1_Missense_Mutation_p.G248D	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	248					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		CCACTGGAGGCCTTTTGATTT	0.343000													51	176					0	0	0.000781405	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644851	20644851	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:20644851C>T	ENST00000428453.1	-	0	3096																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATGTCCCTCGCCCTTTCGGTC	0.458000													18	69					0	0	0.000375601	0	0
AHR	196	broad.mit.edu	37	7	17382555	17382555	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:17382555G>A	ENST00000242057.4	+	11	3057	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	805					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTTCAGAATGGAGTTTTAAAT	0.328000													21	40					0	0	0.00188189	0	0
EMC1	23065	broad.mit.edu	37	1	19567578	19567578	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:19567578C>T	ENST00000477853.1	-	6	610	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EMC1_ENST00000375208.3_Missense_Mutation_p.G168R|EMC1_ENST00000375199.3_Missense_Mutation_p.G190R	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GGAACAACTCCGAGGGCCCAC	0.507000											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	58					0	0	0.00058488	0	0
OR10J3	441911	broad.mit.edu	37	1	159284246	159284246	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:159284246G>A	ENST00000332217.5	-	1	203	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCTCAGAGATGGATAGCATGC	0.498000													16	64					0	0	0.000566183	0	0
CFH	3075	broad.mit.edu	37	1	196694307	196694307	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196694307G>A	ENST00000367429.4	+	12	1993	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	585	Sushi 10.				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						TCGCAAGAAAGACCAGTATAA	0.353000													13	4					0	0	0.00136819	0	0
FTSJ1	24140	broad.mit.edu	37	X	48341135	48341135	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:48341135C>T	ENST00000019019.2	+	12	1333	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	FTSJ1_ENST00000456787.1_Missense_Mutation_p.P302S|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.P167S|FTSJ1_ENST00000348411.2_Missense_Mutation_p.P304S	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	304					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGACACGTTTCCCCAGCCCCT	0.642000													5	2					0	0	8.12818e-05	0	0
SHISA3	152573	broad.mit.edu	37	4	42403133	42403133	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:42403133G>A	ENST00000319234.4	+	2	600	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	128					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GAGACCCAAGGAGCCCTCGCA	0.572000													72	102					0	0	0.000781405	0	0
FANCM	57697	broad.mit.edu	37	14	45605493	45605493	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:45605493A>G	ENST00000267430.5	+	1	344	c.259A>G	c.(259-261)Acc>Gcc	p.T87A	FANCM_ENST00000556036.1_Missense_Mutation_p.T87A|FANCM_ENST00000542564.2_Missense_Mutation_p.T87A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	87					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTTACCCTACCAATTGCCC	0.577000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	44					0	0	0.00185496	0	0
SSPO	23145	broad.mit.edu	37	7	149477424	149477424	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:149477424G>A	ENST00000378016.2	+	0	1495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTGCAGGGAAGAGTGTGT	0.677000													4	5					0	0	0.00024832	0	0
DNAH7	56171	broad.mit.edu	37	2	196771428	196771428	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:196771428C>T	ENST00000312428.6	-	27	4390	c.4290G>A	c.(4288-4290)atG>atA	p.M1430I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1430	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCCAGGGTTCATTGTTATAA	0.368000													16	23					0	0	0.00074312	0	0
QSOX1	5768	broad.mit.edu	37	1	180165989	180165989	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:180165989G>A	ENST00000367602.3	+	12	2135	c.2061G>A	c.(2059-2061)gaG>gaA	p.E687E	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	687					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCAGCTGGAGGCCCGAGCTG	0.667000													57	32					0	0	0.000781405	0	0
CCNF	899	broad.mit.edu	37	16	2493718	2493718	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:2493718C>T	ENST00000397066.4	+	9	934	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	282					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	p.I282M(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCAGTGAGATCGTCTGCCAGC	0.502000													42	63					0	0	0.000680045	0	0
GRM8	2918	broad.mit.edu	37	7	126173552	126173552	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:126173552C>T	ENST00000339582.2	-	9	2692	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.G628G|GRM8_ENST00000444921.2_Silent_p.G628G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	628					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGAGAAAAATCCCCGTTAGGA	0.463000										HNSCC(24;0.065)			12	22					0	0	0.00136819	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111600674	111600674	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:111600674C>T	ENST00000261486.5	-	6	749	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	158	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)		AGATACATATCCTGCAGTATG	0.333000													50	85					0	0	0.000781405	0	0
GRM4	2914	broad.mit.edu	37	6	34003584	34003584	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:34003584G>A	ENST00000374181.3	-	8	2472	c.2303C>T	c.(2302-2304)aCc>aTc	p.T768I	GRM4_ENST00000538487.1_Missense_Mutation_p.T768I|GRM4_ENST00000545715.1_Missense_Mutation_p.T460I|GRM4_ENST00000535756.1_Missense_Mutation_p.T635I|GRM4_ENST00000455714.2_Missense_Mutation_p.T628I|GRM4_ENST00000374177.3_Missense_Mutation_p.T652I|GRM4_ENST00000544773.1_Missense_Mutation_p.T599I	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	768					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGCATACACGGTGCACGTGAC	0.602000													12	29					0	0	0.00136819	0	0
PRR23A	729627	broad.mit.edu	37	3	138724486	138724486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:138724486C>T	ENST00000383163.2	-	1	624	c.625G>A	c.(625-627)Gga>Aga	p.G209R		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	209	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GGAGAGTGTCCCTCTGAACTG	0.652000													5	4					0	0	0.000602214	0	0
DNAH1	25981	broad.mit.edu	37	3	52433001	52433001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52433001G>A	ENST00000420323.2	+	76	12486	c.12225G>A	c.(12223-12225)tgG>tgA	p.W4075*		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4140					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCTCTGGAGTGCCAAGG	0.567000													29	29					0	0	0.000878237	0	0
SYT3	84258	broad.mit.edu	37	19	51133319	51133319	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:51133319C>T	ENST00000338916.4	-	3	1417	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SYT3_ENST00000593901.1_Missense_Mutation_p.E262K|SYT3_ENST00000600079.1_Missense_Mutation_p.E262K|SYT3_ENST00000544769.1_Missense_Mutation_p.E262K	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	262						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGGCTTTTTCCTCGCCTCCA	0.682000													28	37					0	0	0.001512	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904478	74904478	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:74904478C>T	ENST00000289575.5	+	9	1686	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLCO2B1_ENST00000454962.2_Silent_p.L204L|SLCO2B1_ENST00000428359.2_Silent_p.L409L|SLCO2B1_ENST00000341411.4_Silent_p.L204L|SLCO2B1_ENST00000525650.1_Silent_p.L287L|SLCO2B1_ENST00000532236.1_Silent_p.L315L|SLCO2B1_ENST00000531756.1_Silent_p.L176L	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	431					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGGTGGCGTCCTGGTCAAGCG	0.632000													21	25					0	0	0.000295444	0	0
PSG4	5672	broad.mit.edu	37	19	43698546	43698546	+	Missense_Mutation	SNP	G	G	A	rs138668740		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43698546G>A	ENST00000405312.3	-	5	1426	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG4_ENST00000433626.2_Missense_Mutation_p.R304C|PSG4_ENST00000244295.9_Missense_Mutation_p.R304C	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	397	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448000													81	85					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000													28	25					0	0	0.00106085	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424004	47424004	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:47424004A>C	ENST00000404338.3	+	1	2072	c.2072A>C	c.(2071-2073)aAt>aCt	p.N691T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	691					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CGGCGGGATAATCATTTAGTC	0.453000													7	12					0	0	8.12818e-05	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781086	135781086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:135781086C>T	ENST00000392915.1	-	1	133	c.14G>A	c.(13-15)tGg>tAg	p.W5*	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		TTGAAAGTTCCAATGTGCTcc	0.443000													13	32					0	0	0.000219431	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179303026	179303026	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:179303026G>A	ENST00000356834.3	-	11	1831	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	TBC1D9B_ENST00000355235.3_Silent_p.I598I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	598	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGTCACGATGTTCATTG	0.632000													5	12					0	0	0.000602214	0	0
OR2L2	26246	broad.mit.edu	37	1	248201816	248201816	+	Missense_Mutation	SNP	G	G	A	rs142994715		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248201816G>A	ENST00000366479.2	+	1	343	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D83N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAtggtttatgattttctgta	0.418000													127	74					0	0	0.000781405	0	0
HDLBP	3069	broad.mit.edu	37	2	242206277	242206277	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:242206277G>A	ENST00000391975.1	-	3	235	c.8C>T	c.(7-9)tCc>tTc	p.S3F	HDLBP_ENST00000427183.2_Missense_Mutation_p.S39F|HDLBP_ENST00000310931.4_Missense_Mutation_p.S3F|HDLBP_ENST00000391976.2_Missense_Mutation_p.S3F	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	3					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AACTGCAACGGAACTCATGGT	0.433000													56	97					0	0	0.000781405	0	0
OR2A25	392138	broad.mit.edu	37	7	143771381	143771381	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143771381G>A	ENST00000408898.2	+	1	107	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CAAGGATTCAGATGCTCCTCT	0.517000													22	42					0	0	0.00188189	0	0
MYH6	4624	broad.mit.edu	37	14	23862632	23862632	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:23862632G>A	ENST00000405093.3	-	23	3094	c.3024C>T	c.(3022-3024)gcC>gcT	p.A1008A	MYH6_ENST00000356287.3_Silent_p.A1008A	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1008					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTCATCCAGGGCCTGCTGAT	0.517000													66	82					0	0	0.000781405	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791406	50791406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:50791406C>T	ENST00000263046.4	+	3	561	c.395C>T	c.(394-396)cCc>cTc	p.P132L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P123L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	123					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCTCTCCTGCCCCAGCCTCGG	0.697000													4	13					0	0	0.00024832	0	0
SAFB2	9667	broad.mit.edu	37	19	5591793	5591793	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:5591793G>A	ENST00000252542.4	-	17	2624	c.2360C>T	c.(2359-2361)tCg>tTg	p.S787L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	787	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CATTGGCCTCGAACCCTCCCG	0.567000													7	10					0	0	0.000157383	0	0
SYTL1	84958	broad.mit.edu	37	1	27679915	27679915	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:27679915C>T	ENST00000543823.1	+	13	1947	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	SYTL1_ENST00000318074.5_Silent_p.S483S|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	495	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGAGCTCTCCCTCTGGGACC	0.662000													15	16					0	0	0.00121646	0	0
P4HA1	5033	broad.mit.edu	37	10	74833576	74833576	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:74833576G>A	ENST00000412021.2	-	4	419	c.86C>T	c.(85-87)aCt>aTt	p.T29I	P4HA1_ENST00000440381.1_Missense_Mutation_p.T29I|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000394890.2_Missense_Mutation_p.T29I|P4HA1_ENST00000307116.2_Missense_Mutation_p.T29I|P4HA1_ENST00000373008.2_Missense_Mutation_p.T29I|P4HA1_ENST00000263556.3_Missense_Mutation_p.T29I	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	29						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATCAAATCAGTCATCTGACC	0.333000													31	37					0	0	0.00178596	0	0
GBP4	115361	broad.mit.edu	37	1	89655736	89655736	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:89655736G>A	ENST00000355754.6	-	7	1279	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	394						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)		GCTTCTTCTGGAATTCATGGT	0.478000													18	33					0	0	0.000295444	0	0
NLRC5	84166	broad.mit.edu	37	16	57075940	57075940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57075940C>T	ENST00000436936.1	+	19	3301	c.3076C>T	c.(3076-3078)Cag>Tag	p.Q1026*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1026*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1026*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q1026*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1026					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGGCTGGCTCAGCTGCTCCC	0.637000													15	31					0	0	0.00152264	0	0
MYO5C	55930	broad.mit.edu	37	15	52529717	52529717	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:52529717C>T	ENST00000261839.7	-	22	2991	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	944						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCCTTCTCCTCGTAATTTCGC	0.522000													134	217					0	0	0.000781405	0	0
CUBN	8029	broad.mit.edu	37	10	16982135	16982135	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:16982135G>A	ENST00000377833.4	-	37	5509	c.5444C>T	c.(5443-5445)tCc>tTc	p.S1815F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1815	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAGGGAAGGAGTTTCCACA	0.502000													53	80					0	0	0.000781405	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808644	18808644	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:18808644C>T	ENST00000400664.1	+	1	1221	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	390						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTGCCCAGACCCGGGC	0.667000													17	21					0	0	0.000958276	0	0
EPHA10	284656	broad.mit.edu	37	1	38187411	38187411	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:38187411G>A	ENST00000373048.4	-	11	2066	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	EPHA10_ENST00000427468.2_Silent_p.L689L|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.L184L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	689	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGAAGCCGAGCCTCTGTG	0.662000													9	18					0	0	0.000673444	0	0
PNKP	11284	broad.mit.edu	37	19	50368642	50368642	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:50368642C>T	ENST00000322344.3	-	4	349	c.240G>A	c.(238-240)aaG>aaA	p.K80K	PNKP_ENST00000596014.1_Silent_p.K80K|PNKP_ENST00000600573.1_Silent_p.K80K|PNKP_ENST00000600910.1_Silent_p.K80K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	80					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCAACCCCGGCTTCAACTCCT	0.627000								Other BER factors					7	7					0	0	8.12818e-05	0	0
SSH3	54961	broad.mit.edu	37	11	67075030	67075030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:67075030C>T	ENST00000308127.4	+	7	791	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	SSH3_ENST00000376757.5_Nonsense_Mutation_p.Q205*|SSH3_ENST00000308298.7_Nonsense_Mutation_p.Q205*|SSH3_ENST00000532181.1_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	205					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCACACTCCAGGTATTGCA	0.632000													15	25					0	0	0.000566183	0	0
EFR3A	23167	broad.mit.edu	37	8	133014007	133014007	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:133014007T>C	ENST00000254624.5	+	20	2384	c.2157_splice	c.e20-1	p.V720_splice	EFR3A_ENST00000334503.4_Splice_Site_p.V720_splice|EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Splice_Site_p.V684_splice	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	720						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTCTCTAGGTTAGTAACACT	0.303000													32	52					0	0	0.00058488	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	C	T	rs145110689		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:178408731C>T	ENST00000231188.5	-	10	2739	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	854					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000													28	56					0	0	0.00127121	0	0
AOAH	313	broad.mit.edu	37	7	36552758	36552758	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:36552758C>T	ENST00000431169.1	-	22	2247	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000538464.1_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGAAGAGTCCTTTGGGCCTG	0.542000													10	19					0	0	0.000442599	0	0
KRT9	3857	broad.mit.edu	37	17	39724455	39724455	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39724455G>A	ENST00000246662.4	-	6	1418	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	KRT9_ENST00000588431.1_Silent_p.I218I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	451	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GGTAGGTCTCGATTTCCTTCT	0.552000													21	39					0	0	0.00047179	0	0
ZNF627	199692	broad.mit.edu	37	19	11728123	11728123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:11728123C>T	ENST00000361113.5	+	4	1013	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	269				H -> R (in Ref. 2; AAH98416).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CATTCGAATCCATGAACGAAC	0.448000													7	15					0	0	8.12818e-05	0	0
TMEM156	80008	broad.mit.edu	37	4	39000388	39000388	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:39000388G>A	ENST00000381938.3	-	2	337	c.230C>T	c.(229-231)cCc>cTc	p.P77L	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	77						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAAATTGGAGGGATTTAGAAA	0.368000													6	15					0	0	8.12818e-05	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813976	106813976	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:106813976A>G	ENST00000407775.2	+	8	1916	c.1666A>G	c.(1666-1668)Aca>Gca	p.T556A	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T287A|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T424A|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T424A|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	556					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)			GTGTAACATAACATTCAATAA	0.473000													18	27					0	0	0.00074312	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802138	43802138	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:43802138G>A	ENST00000398397.3	-	9	1188	c.988C>T	c.(988-990)Cct>Tct	p.P330S	TMPRSS3_ENST00000433957.2_Intron|TMPRSS3_ENST00000398405.1_Intron|TMPRSS3_ENST00000474596.1_Intron|TMPRSS3_ENST00000291532.3_Intron|TMPRSS3_ENST00000380399.1_Intron	NM_032405.1	NP_115781.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						tgaaacaaaggaagagctGCA	0.443000													32	32					0	0	0.000339439	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113656944	113656944	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:113656944G>A	ENST00000358160.4	+	15	2137	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E344K|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E382K|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.E278K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	549						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAAGAAAAAGGAAATGGAAAA	0.289000													14	17					0	0	0.000958276	0	0
CDC25A	993	broad.mit.edu	37	3	48205896	48205896	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:48205896A>G	ENST00000302506.3	-	13	1631	c.1223T>C	c.(1222-1224)gTt>gCt	p.V408A	CDC25A_ENST00000351231.3_Missense_Mutation_p.V368A|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	408	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGTCTTCAACCTCTTCTTC	0.458000													14	22					0	0	0.000219431	0	0
GLCCI1	113263	broad.mit.edu	37	7	8095132	8095132	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:8095132C>T	ENST00000223145.5	+	4	1323	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	256										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGAGAAAGATCGCCAGTCACC	0.423000													22	35					0	0	0.000375601	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715179	74715179	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:74715179C>T	ENST00000370895.1	+	5	524	c.489C>T	c.(487-489)taC>taT	p.Y163Y	TNNI3K_ENST00000370891.2_Silent_p.Y163Y|FPGT-TNNI3K_ENST00000370899.3_Silent_p.Y163Y|FPGT-TNNI3K_ENST00000557284.1_Silent_p.Y163Y|TNNI3K_ENST00000326637.3_Silent_p.Y62Y			Q59H18	TNI3K_HUMAN		62						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATTTAAATTACCGCACTGAAA	0.328000													23	39					0	0	0.000878237	0	0
ZNF486	90649	broad.mit.edu	37	19	20296886	20296886	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:20296886C>T	ENST00000335117.8	+	3	305	c.248C>T	c.(247-249)cCc>cTc	p.P83L	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.P83L	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTGCCAAACCCCCAGGTAGG	0.428000													19	30					0	0	0.00188189	0	0
DPYS	1807	broad.mit.edu	37	8	105456623	105456623	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:105456623C>T	ENST00000351513.2	-	4	778	c.646G>A	c.(646-648)Ggc>Agc	p.G216S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	216					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.G216C(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCGTGGCCCTCAGGGCCT	0.527000													21	22					0	0	0.00047179	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907728	12907728	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12907728C>T	ENST00000317869.6	-	2	640	c.415G>A	c.(415-417)Gct>Act	p.A139T		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGCACTACAGCCAGAGCAATG	0.498000													39	55					0	0	0.000953801	0	0
COL4A1	1282	broad.mit.edu	37	13	110822958	110822958	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:110822958G>A	ENST00000375820.4	-	42	3799	c.3678C>T	c.(3676-3678)tcC>tcT	p.S1226S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1226	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CATGGCCTGGGGATCCCGGTA	0.672000													8	16					0	0	0.000442599	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367393	125367393	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:125367393C>T	ENST00000431078.1	+	12	2133	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	590	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACGAGCAATCCTGCGAGGTG	0.507000													21	21					0	0	0.00047179	0	0
SF3B1	23451	broad.mit.edu	37	2	198265465	198265465	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:198265465A>G	ENST00000335508.5	-	18	2783	c.2692T>C	c.(2692-2694)Tat>Cat	p.Y898H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	898					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGAAAGCATAAAGAATACCA	0.323000			Mis		myelodysplastic syndrome								15	49					0	0	0.000422831	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558485	129558485	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:129558485C>T	ENST00000422113.2	-	9	3561	c.3235G>A	c.(3235-3237)Gat>Aat	p.D1079N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D617N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1079						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTCCAGATCCTGGCAGACC	0.507000													94	14					0	0	0.000781405	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386156	49386156	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:49386156G>A	ENST00000374201.3	-	22	3131	c.2829C>T	c.(2827-2829)atC>atT	p.I943I	FRMPD2_ENST00000305531.3_Silent_p.I918I|FRMPD2_ENST00000407470.4_Silent_p.I911I|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	943					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CACCAGCACTGATTTCTGGAG	0.408000													14	23					0	0	0.000295444	0	0
COL4A5	1287	broad.mit.edu	37	X	107849982	107849982	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:107849982G>A	ENST00000328300.6	+	29	2499	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G752E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	752	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGAACCAGGATTTGCATTA	0.478000									Alport syndrome with Diffuse Leiomyomatosis				46	7					0	0	0.000781405	0	0
CEP350	9857	broad.mit.edu	37	1	180003092	180003092	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:180003092C>T	ENST00000367607.3	+	16	4239	c.3821C>T	c.(3820-3822)tCt>tTt	p.S1274F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1274	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCAGGAACTTCTTCAGAAAGA	0.453000													30	94					0	0	0.00178596	0	0
TAF1C	9013	broad.mit.edu	37	16	84215594	84215594	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:84215594G>A	ENST00000567759.1	-	8	974	c.792C>T	c.(790-792)ctC>ctT	p.L264L	TAF1C_ENST00000541676.1_Silent_p.L197L|TAF1C_ENST00000566732.1_Silent_p.L264L|TAF1C_ENST00000341690.6_Silent_p.L197L|TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000378541.4_Silent_p.L264L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	264					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAGGTCCCTGGAGCTGGATGC	0.557000													35	13					0	0	0.00170553	0	0
USF1	7391	broad.mit.edu	37	1	161010635	161010635	+	Silent	SNP	C	C	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:161010635C>G	ENST00000368021.3	-	8	792	c.588G>C	c.(586-588)cgG>cgC	p.R196R	USF1_ENST00000435396.1_Silent_p.R137R|USF1_ENST00000368019.1_Silent_p.R168R|USF1_ENST00000368020.1_Silent_p.R196R	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	196					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTTTCTCATCCCGAGTCGTCC	0.502000													32	91					0	0	0.00111076	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039448	55039448	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:55039448G>A	ENST00000370862.3	+	1	399	c.63G>A	c.(61-63)ctG>ctA	p.L21L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	21					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTCGGAGCTGAATGAAACTC	0.537000													27	81					0	0	0.000339439	0	0
FGF21	26291	broad.mit.edu	37	19	49261309	49261309	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49261309G>A	ENST00000593756.1	+	4	1034	c.462G>A	c.(460-462)cgG>cgA	p.R154R	FGF21_ENST00000222157.3_Silent_p.R154R			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	154					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCCACACCGGGACCCTGCAC	0.682000													17	28					0	0	0.000422831	0	0
MPP2	4355	broad.mit.edu	37	17	41975721	41975721	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:41975721C>T	ENST00000269095.4	-	3	363	c.59G>A	c.(58-60)gGa>gAa	p.G20E	MPP2_ENST00000523501.1_Missense_Mutation_p.G9E|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000518766.1_Missense_Mutation_p.G65E|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.G20E|MPP2_ENST00000377184.3_Missense_Mutation_p.G37E|MPP2_ENST00000536246.1_Missense_Mutation_p.G9E	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	20	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGGGAGGGATCCCAAGTTGTC	0.552000													11	25					0	0	0.00136819	0	0
ANKHD1	54882	broad.mit.edu	37	5	139815696	139815696	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:139815696C>T	ENST00000297183.6	+	2	438	c.314C>T	c.(313-315)tCa>tTa	p.S105L	ANKHD1_ENST00000394722.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S105L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S105L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S105L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTTGAATCATTTATTTTG	0.318000													6	15					0	0	8.12818e-05	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638485	18638485	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:18638485C>T	ENST00000449552.2	+	7	2243	c.759C>T	c.(757-759)ctC>ctT	p.L253L	TRIM16L_ENST00000571708.1_Silent_p.L253L|TRIM16L_ENST00000395902.3_Silent_p.L307L|TRIM16L_ENST00000395671.4_Silent_p.L253L|TRIM16L_ENST00000395672.2_Silent_p.L253L|TRIM16L_ENST00000572555.1_Silent_p.L253L|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	253	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTGGAGCCTCCAATGGAACG	0.572000													54	74					0	0	0.000781405	0	0
PLA2R1	22925	broad.mit.edu	37	2	160869882	160869882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:160869882C>T	ENST00000283243.7	-	10	1762	c.1556G>A	c.(1555-1557)tGg>tAg	p.W519*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.W519*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	519					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATGTCTCTCCCATCCCTTAAA	0.373000													15	28					0	0	0.000219431	0	0
NDST3	9348	broad.mit.edu	37	4	119064801	119064801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:119064801C>T	ENST00000296499.5	+	6	1904	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.Q420*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	501	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAAGAGTATCCAAGGAGGAGA	0.418000													27	19					0	0	0.00106085	0	0
VEZT	55591	broad.mit.edu	37	12	95694281	95694281	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:95694281G>A	ENST00000436874.1	+	12	2277	c.2172G>A	c.(2170-2172)caG>caA	p.Q724Q	VEZT_ENST00000261219.6_Silent_p.Q676Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	724						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CCATTAAGCAGAGGCTGGCAC	0.527000													37	9					0	0	0.000814825	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171970	102171970	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:102171970G>A	ENST00000306176.1	+	3	462	c.362G>A	c.(361-363)gGa>gAa	p.G121E	ZPLD1_ENST00000466937.1_Missense_Mutation_p.G105E|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G105E	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	105	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGGGCTGTGGAAACAACCTG	0.443000													10	11					0	0	0.00185496	0	0
CFHR2	3080	broad.mit.edu	37	1	196918710	196918710	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196918710C>T	ENST00000367415.4	+	2	298	c.184C>T	c.(184-186)Cct>Tct	p.P62S	CFHR2_ENST00000367421.3_Missense_Mutation_p.P62S|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	62	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTTTGTGTCTCCTTCAAAATC	0.383000													37	19					0	0	0.000953801	0	0
NPY5R	4889	broad.mit.edu	37	4	164272412	164272412	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:164272412C>T	ENST00000515560.1	+	4	2509	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NPY5R_ENST00000338566.3_Silent_p.F329F|NPY5R_ENST00000506953.1_Silent_p.F329F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	329					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CCAGTAAGTTCATACCAGGGG	0.393000													15	24					0	0	0.000308642	0	0
XIRP1	165904	broad.mit.edu	37	3	39226980	39226980	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:39226980G>A	ENST00000340369.3	-	2	4185	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.P2P	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1319	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTTCTTTGGGGGCATGGTGG	0.607000													38	43					0	0	0.00195071	0	0
USP8	9101	broad.mit.edu	37	15	50791221	50791221	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:50791221C>T	ENST00000433963.1	+	21	3793	c.3293C>T	c.(3292-3294)tCt>tTt	p.S1098F	USP8_ENST00000396444.3_Missense_Mutation_p.S1098F|USP8_ENST00000307179.4_Missense_Mutation_p.S1098F|USP8_ENST00000425032.3_Missense_Mutation_p.S992F	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1098					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCTGTGAAATCTTCAGCAGCT	0.378000													35	40					0	0	0.00058488	0	0
HCN1	348980	broad.mit.edu	37	5	45262086	45262086	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:45262086T>A	ENST00000303230.4	-	8	2667	c.2610A>T	c.(2608-2610)gaA>gaT	p.E870D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	870						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGAGGAAGATTCTCTTGGAA	0.527000													58	71					0	0	0.000781405	0	0
FAM129A	116496	broad.mit.edu	37	1	184775092	184775092	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:184775092G>A	ENST00000367511.3	-	11	1627	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	478					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTAAGACTCGGAGTTTAACCT	0.433000											OREG0014050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	47					0	0	0.000375601	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:166924680G>A	ENST00000061240.2	+	6	1417	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R257Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R257Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	257	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACCAGATCGAGATAACCAC	0.408000													10	14					0	0	0.000442599	0	0
FST	10468	broad.mit.edu	37	5	52781787	52781787	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:52781787C>T	ENST00000256759.3	+	6	1342	c.959C>T	c.(958-960)tCg>tTg	p.S320L	FST_ENST00000396947.3_3'UTR	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	320					hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTAGCCATTTCGGAAGACACC	0.448000													62	54					0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86394850	86394850	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:86394850G>A	ENST00000361669.2	+	2	1488	c.389G>A	c.(388-390)gGa>gAa	p.G130E	GRM3_ENST00000394720.2_Missense_Mutation_p.G128E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G130E|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	130					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTCCTGATGGATCCTATGCC	0.428000													6	6					0	0	0.00116845	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199751	71199751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:71199751G>A	ENST00000554752.2	-	11	2334	c.2335C>T	c.(2335-2337)Ccc>Tcc	p.P779S	MAP3K9_ENST00000553414.1_Missense_Mutation_p.P512S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P756S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P507S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P793S			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	779					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCTCCAGGGGAAGCAGCTGG	0.652000													20	38					0	0	0.000586117	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710915	140710915	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140710915C>T	ENST00000517417.1	+	1	664	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R222C	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACCAGTCCGTTCAGGGAC	0.493000													21	28					0	0	0.000295444	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405937	20405937	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:20405937C>T	ENST00000580113.1	-	0	926																											TCTCCAGGCCCTGGAACACCC	0.587000													7	15					0	0	0.000274275	0	0
L1TD1	54596	broad.mit.edu	37	1	62675616	62675616	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:62675616G>A	ENST00000498273.1	+	4	1465	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	390	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGGATGAAGAGGCCTCAGGGA	0.493000													41	56					0	0	0.00148497	0	0
SLIT3	6586	broad.mit.edu	37	5	168139336	168139336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:168139336G>A	ENST00000519560.1	-	24	2926	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	SLIT3_ENST00000332966.8_Missense_Mutation_p.S836F|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.S836F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	836					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGAACGCTGGAAATGTCATT	0.463000													62	72					0	0	0.000781405	0	0
OR8U1	219417	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56143797G>A	ENST00000302270.1	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.G233V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCAGCTGAGGGAAGACAGAAG	0.463000													7	6					0	0	0.000274275	0	0
SOX10	6663	broad.mit.edu	37	22	38374057	38374057	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38374057T>C	ENST00000396884.2	-	3	796	c.514A>G	c.(514-516)Aag>Gag	p.K172E	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.K172E	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	172						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGCTGGTACTTGTAGTCCGGG	0.677000													6	12					0	0	0.00116845	0	0
LDHD	197257	broad.mit.edu	37	16	75148831	75148831	+	Silent	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:75148831T>A	ENST00000300051.4	-	4	409	c.363A>T	c.(361-363)cgA>cgT	p.R121R	LDHD_ENST00000450168.2_Silent_p.R121R	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	121	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GCTCCAGGATTCGGTCCATAT	0.637000													19	37					0	0	0.00152264	0	0
UNC5B	219699	broad.mit.edu	37	10	73048424	73048424	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:73048424G>A	ENST00000335350.6	+	7	1417	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	UNC5B_ENST00000373192.4_Missense_Mutation_p.G334E	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	334	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCCCAGAACGGAGGCCGTGAC	0.657000													18	18					0	0	0.000566183	0	0
RBM12	10137	broad.mit.edu	37	20	34243230	34243230	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:34243230G>A	ENST00000374114.3	-	3	278	c.15C>T	c.(13-15)atC>atT	p.I5I	RBM12_ENST00000359646.1_Silent_p.I5I|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.I5I|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_5'UTR|CPNE1_ENST00000352393.4_5'UTR|CPNE1_ENST00000397446.1_5'UTR	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	5						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTGCAAACGGATGACCACAG	0.527000											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	18					0	0	0.00121646	0	0
SMYD1	150572	broad.mit.edu	37	2	88402614	88402614	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:88402614C>T	ENST00000419482.2	+	7	1011	c.926C>T	c.(925-927)tCc>tTc	p.S309F	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.S296F	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATACAATTCTCCAAGGATACA	0.458000													30	41					0	0	0.00058488	0	0
CILP	8483	broad.mit.edu	37	15	65499344	65499344	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:65499344C>T	ENST00000261883.4	-	4	366	c.200G>A	c.(199-201)gGg>gAg	p.G67E		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	67					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTCGCCCTTCCCGCCTGGGTA	0.597000													11	12					0	0	0.00136819	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486272	11486272	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:11486272C>T	ENST00000312423.2	+	2	329	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	90																	GGCCAGCCCCCTCCCTTCTGC	0.607000													46	63					0	0	0.000680045	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257234	9257234	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:9257234C>T	ENST00000383440.2	+	8	4157	c.3900C>T	c.(3898-3900)ttC>ttT	p.F1300F	ANKRD12_ENST00000400020.3_Silent_p.F1300F|ANKRD12_ENST00000262126.3_Silent_p.F1323F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1323						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CCAAACAATTCCAAACAATAT	0.398000													30	57					0	0	0.00058488	0	0
GLRA3	8001	broad.mit.edu	37	4	175580303	175580303	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:175580303G>A	ENST00000274093.3	-	8	1475	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	GLRA3_ENST00000340217.5_Missense_Mutation_p.L325F	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	325					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AACACAAAAAGGAGGCATACT	0.358000													8	12					0	0	0.000157383	0	0
SYCP1	6847	broad.mit.edu	37	1	115455667	115455667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:115455667G>A	ENST00000369522.3	+	19	1783	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E515K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	515					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGAATACTGAATTAACTTC	0.299000													21	34					0	0	0.00188189	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644400	18644400	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:18644400G>A	ENST00000433979.1	+	19	2694	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E901K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E860K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	860					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACTGAAGAAAGAAATTGGCAG	0.328000													67	9					0	0	0.000781405	0	0
CHI3L2	1117	broad.mit.edu	37	1	111784004	111784004	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:111784004C>T	ENST00000445067.2	+	11	1745	c.974C>T	c.(973-975)cCc>cTc	p.P325L	CHI3L2_ENST00000524472.1_Missense_Mutation_p.P246L|CHI3L2_ENST00000369748.4_Missense_Mutation_p.P325L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.P246L|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.P315L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	325					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CAACAGGTTCCCTACGCAGTC	0.537000													10	21					0	0	0.000219431	0	0
PTPRT	11122	broad.mit.edu	37	20	40727169	40727169	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:40727169G>A	ENST00000373198.3	-	28	4039	c.3804C>T	c.(3802-3804)ttC>ttT	p.F1268F	PTPRT_ENST00000373184.1_Silent_p.F1256F|PTPRT_ENST00000373193.3_Silent_p.F1249F|PTPRT_ENST00000356100.2_Silent_p.F1255F|PTPRT_ENST00000373201.1_Silent_p.F1236F|PTPRT_ENST00000373187.1_Silent_p.F1246F|PTPRT_ENST00000373190.1_Silent_p.F1245F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1246	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTGACCACGAAGGCGGCAG	0.517000													20	37					0	0	0.00152264	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891882	18891882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:18891882G>A	ENST00000317658.3	+	1	838	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	227					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGTTTTGCAAGGCTTGTGGAA	0.403000													16	5					0	0	0.000566183	0	0
MYBL2	4605	broad.mit.edu	37	20	42344652	42344652	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:42344652C>T	ENST00000217026.4	+	14	2155	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	MYBL2_ENST00000396863.4_Silent_p.F652F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	676						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCAGCTTTTCATGCAGGAGA	0.617000													68	87					0	0	0.000781405	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071643	63071643	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:63071643C>T	ENST00000544661.1	+	9	1173	c.745C>T	c.(745-747)Cca>Tca	p.P249S	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000332793.6_Missense_Mutation_p.S450F|SLC22A10_ENST00000525620.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	0						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTACTTTTTCCAGTGTTGCT	0.463000													45	59					0	0	0.000781405	0	0
F8	2157	broad.mit.edu	37	X	154134723	154134723	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:154134723A>G	ENST00000360256.4	-	15	5545	c.5345T>C	c.(5344-5346)aTa>aCa	p.I1782T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1782	F5/8 type A 3.|Plastocyanin-like 5.		I -> R (in HEMA; severe sporadic).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGCTCTTATATATGGCCC	0.338000													24	13					0	0	0.00127121	0	0
GHR	2690	broad.mit.edu	37	5	42718865	42718865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:42718865G>A	ENST00000230882.4	+	10	1446	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	GHR_ENST00000537449.1_Missense_Mutation_p.G232E|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.G397E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	419					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTTAAAAGGGGAAGCAGAT	0.468000													28	25					0	0	0.000878237	0	0
C2orf16	84226	broad.mit.edu	37	2	27802577	27802577	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27802577G>T	ENST00000408964.2	+	1	3189	c.3138G>T	c.(3136-3138)atG>atT	p.M1046I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1046										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTGTTCCAATGGAAGAAAGTG	0.468000													40	55					2.40228e-13	1.54457e-12	0.000680045	1	0
TRIM55	84675	broad.mit.edu	37	8	67086746	67086746	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:67086746C>T	ENST00000315962.4	+	10	1938	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V|TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	522						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478000													21	55					0	0	0.000295444	0	0
OLFM3	118427	broad.mit.edu	37	1	102270070	102270070	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:102270070A>G	ENST00000370103.4	-	6	1314	c.1101T>C	c.(1099-1101)acT>acC	p.T367T	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.T387T|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	387	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGGGTAGCCAGTGCTCCAGC	0.478000													5	8					0	0	0.00116845	0	0
P2RX3	5024	broad.mit.edu	37	11	57135900	57135900	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:57135900C>A	ENST00000263314.2	+	10	1026	c.992C>A	c.(991-993)tCt>tAt	p.S331Y		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	331					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCCTTTACTTCTGTGGGAGTG	0.612000													37	59					1.30998e-17	8.44733e-17	0.00111076	1	0
IDO1	3620	broad.mit.edu	37	8	39785614	39785614	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:39785614G>A	ENST00000518237.1	+	10	1761	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	IDO1_ENST00000522495.1_Silent_p.L374L|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	374					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTTCAAAACTGGAAGCCAAAG	0.438000													10	14					0	0	0.000978159	0	0
NLRC5	84166	broad.mit.edu	37	16	57054760	57054760	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57054760G>A	ENST00000436936.1	+	3	361	c.136G>A	c.(136-138)Gag>Aag	p.E46K	NLRC5_ENST00000308149.7_Missense_Mutation_p.E46K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E46K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E46K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	46					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTCCAGGAACGAGACCTTGGA	0.532000													12	18					0	0	0.000422831	0	0
TCERG1	10915	broad.mit.edu	37	5	145838453	145838453	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:145838453T>C	ENST00000296702.5	+	4	483	c.445T>C	c.(445-447)Tat>Cat	p.Y149H	TCERG1_ENST00000394421.2_Missense_Mutation_p.Y149H	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	149	WW 1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGTTTATTATTATAATGC	0.368000													49	53					0	0	0.000781405	0	0
NXF3	56000	broad.mit.edu	37	X	102335530	102335530	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:102335530C>T	ENST00000395065.3	-	10	1002	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	301	Leu-rich.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGGAACAATTCCAGGATGGAG	0.468000													31	4					0	0	0.00058488	0	0
PAMR1	25891	broad.mit.edu	37	11	35457605	35457605	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:35457605G>A	ENST00000378880.2	-	9	1624	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	PAMR1_ENST00000278360.3_Silent_p.A410A|PAMR1_ENST00000378878.3_Silent_p.A282A|PAMR1_ENST00000532848.1_Silent_p.A353A	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	393	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAAAGGGAAGGGCTGGCTTCT	0.572000													111	15					0	0	0.000781405	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067081	63067081	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:63067081C>T	ENST00000544661.1	+	7	1013	c.585C>T	c.(583-585)atC>atT	p.I195I	SLC22A10_ENST00000535888.1_Silent_p.I140I|SLC22A10_ENST00000526800.1_Silent_p.I190I|SLC22A10_ENST00000332793.6_Silent_p.I350I|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	350						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAAAAGGATCTGTATCCTGG	0.423000													6	12					0	0	8.12818e-05	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480210	96480210	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:96480210G>A	ENST00000285979.6	+	6	1076	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.D234N|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CACTGTAACTGATATGTTTGG	0.398000													6	7					0	0	0.00116845	0	0
VWA2	340706	broad.mit.edu	37	10	116049017	116049017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:116049017G>A	ENST00000603594.1	+	12	2212	c.1891G>A	c.(1891-1893)Ggt>Agt	p.G631S	VWA2_ENST00000392982.3_Missense_Mutation_p.G631S	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	631	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGCCCGGCCTGGTGTCCCCAA	0.627000													7	16					0	0	0.000274275	0	0
DMD	1756	broad.mit.edu	37	X	32305680	32305680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:32305680C>T	ENST00000357033.4	-	43	6462	c.6256G>A	c.(6256-6258)Gaa>Aaa	p.E2086K	DMD_ENST00000378677.2_Missense_Mutation_p.E2082K	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	2086					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)				TTAACTTTTTCCCATTGGAAA	0.398000													14	2					0	0	0.000308642	0	0
PALMD	54873	broad.mit.edu	37	1	100155120	100155120	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:100155120G>A	ENST00000263174.4	+	7	1679	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E	PALMD_ENST00000605497.1_Missense_Mutation_p.G435E	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	435					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TTTCTGACAGGATATGATGGG	0.478000													10	9					0	0	0.000673444	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865602	140865602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140865602C>T	ENST00000306593.1	+	1	862	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_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)			TACCCCTGATCGTGTAAGAAA	0.512000													42	65					0	0	0.000781405	0	0
RNF180	285671	broad.mit.edu	37	5	63509416	63509416	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:63509416C>T	ENST00000389100.4	+	4	335	c.263C>T	c.(262-264)cCt>cTt	p.P88L	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.P88L	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	88						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTGAATTGTCCTTTCTGTGGG	0.423000													42	71					0	0	0.000781405	0	0
COL3A1	1281	broad.mit.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTCCCGAAGGAGGAAA	0.483000													3	3					0	0	6.4e-05	0	0
TARBP1	6894	broad.mit.edu	37	1	234573064	234573064	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:234573064G>A	ENST00000040877.1	-	13	2188	c.2189C>T	c.(2188-2190)tCt>tTt	p.S730F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	730					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATAAATTCAGAAATGCTCTC	0.333000													115	68					0	0	0.000781405	0	0
DGKH	160851	broad.mit.edu	37	13	42729831	42729831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:42729831C>T	ENST00000538674.1	+	2	161	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	DGKH_ENST00000536612.1_Missense_Mutation_p.S37L|DGKH_ENST00000337343.4_Missense_Mutation_p.S173L|DGKH_ENST00000379274.2_Missense_Mutation_p.S37L|DGKH_ENST00000261491.4_Missense_Mutation_p.S173L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.S173L			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	963					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAACATTTCTCAGGGATGCAC	0.522000													44	47					0	0	0.000509022	0	0
RBP3	5949	broad.mit.edu	37	10	48387869	48387869	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:48387869G>A	ENST00000224600.4	-	1	3122	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1003	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CATTCTCAGGGATATGGGCTG	0.602000													44	45					0	0	0.000509022	0	0
C20orf24	55969	broad.mit.edu	37	20	35240543	35240543	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35240543C>T	ENST00000342422.3	+	3	479	c.349C>T	c.(349-351)Cct>Tct	p.P117S	C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AACCCCAGCCCCTTGGAACTT	0.498000													92	160					0	0	0.000781405	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921678	47921678	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:47921678C>T	ENST00000289672.2	-	20	3321	c.3271G>A	c.(3271-3273)Gac>Aac	p.D1091N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1091	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGCTGGTGTCCTTAGCTAGG	0.453000													18	34					0	0	0.00188189	0	0
PLCH1	23007	broad.mit.edu	37	3	155282849	155282849	+	Silent	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:155282849T>C	ENST00000460012.1	-	8	1191	c.834A>G	c.(832-834)gaA>gaG	p.E278E	PLCH1_ENST00000494598.1_Silent_p.E296E|PLCH1_ENST00000447496.2_Silent_p.E296E|PLCH1_ENST00000334686.6_Silent_p.E278E|PLCH1_ENST00000340059.7_Silent_p.E296E|PLCH1_ENST00000414191.1_Silent_p.E278E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	296					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTTGGTACACTTCATGGTGCA	0.458000													8	24					0	0	0.000442599	0	0
MAML2	84441	broad.mit.edu	37	11	95826061	95826061	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:95826061G>A	ENST00000524717.1	-	2	2418	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	378					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCTGAGGAGAGCCTGAGGGGC	0.582000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								9	14					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179428394	179428394	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179428394T>C	ENST00000589042.1	-	326	82689	c.82465A>G	c.(82465-82467)Aca>Gca	p.T27489A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18549A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18616A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T18424A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25848A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24921A|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25848							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)			CGTGCCCATGTTACTACCATA	0.483000													17	16					0	0	0.000958276	0	0
DNAH17	8632	broad.mit.edu	37	17	76525569	76525569	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:76525569G>A	ENST00000389840.5	-	22	3616	c.3492C>T	c.(3490-3492)atC>atT	p.I1164I	DNAH17_ENST00000585328.1_Silent_p.I1161I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTTCAAGTGGATCTCCTCTG	0.597000													33	100					0	0	0.00170553	0	0
CLIP4	79745	broad.mit.edu	37	2	29366724	29366724	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:29366724C>T	ENST00000320081.5	+	7	1053	c.798C>T	c.(796-798)ctC>ctT	p.L266L	CLIP4_ENST00000404424.1_Silent_p.L266L|CLIP4_ENST00000401605.1_Silent_p.L266L|CLIP4_ENST00000401617.2_Silent_p.L159L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	266										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGGCCATGCTCCCAAATTATG	0.488000													25	36					0	0	0.00047179	0	0
BRWD1	54014	broad.mit.edu	37	21	40646331	40646331	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:40646331T>A	ENST00000342449.3	-	13	1291	c.1213A>T	c.(1213-1215)Att>Ttt	p.I405F	BRWD1_ENST00000333229.2_Missense_Mutation_p.I405F|BRWD1_ENST00000380800.3_Missense_Mutation_p.I405F	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATAAAATGCTCCTCCAT	0.413000													30	43					0	0	0.000814825	0	0
SCN2A	6326	broad.mit.edu	37	2	166165763	166165763	+	Missense_Mutation	SNP	C	C	T	rs2228981		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:166165763C>T	ENST00000357398.3	+	6	984	c.694C>T	c.(694-696)Cca>Tca	p.P232S	SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.P232S|SCN2A_ENST00000375437.2_Intron			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	232					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCTGTAATTCCAGGTAAGAA	0.373000													11	17					0	0	0.000673444	0	0
OR10G4	390264	broad.mit.edu	37	11	123886880	123886880	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:123886880T>G	ENST00000320891.4	+	1	599	c.599T>G	c.(598-600)gTg>gGg	p.V200G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCATCTTTGTGGACATTGGG	0.552000													37	22					0	0	0.00148497	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199035	81199035	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:81199035G>A	ENST00000394685.3	+	13	1862	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.E481E|KIAA1199_ENST00000220244.3_Silent_p.E481E|RP11-351M8.1_ENST00000560560.1_Intron			Q8WUJ3	K1199_HUMAN	KIAA1199	481										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCGGGGAGGAGATAGACGGCG	0.572000													31	37					0	0	0.00128727	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436414	113436414	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:113436414C>T	ENST00000313341.3	-	2	544	c.218G>A	c.(217-219)gGc>gAc	p.G73D		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	73					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGGCCGGCAGCCCTCCGCACC	0.786000													5	4					0	0	0.000602214	0	0
MIA2	117153	broad.mit.edu	37	14	39722131	39722131	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:39722131G>A	ENST00000280082.3	+	5	1946	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GGTTTCAACTGATAACTCTTT	0.358000													8	13					0	0	0.000157383	0	0
NCSTN	23385	broad.mit.edu	37	1	160326137	160326137	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:160326137G>A	ENST00000368063.1	+	15	1859	c.1579_splice	c.e15+1	p.G527_splice	NCSTN_ENST00000294785.5_Splice_Site_p.G547_splice|NCSTN_ENST00000392212.4_Splice_Site_p.G527_splice|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_Splice_Site_p.G289_splice|NCSTN_ENST00000535857.1_Splice_Site_p.G409_splice			Q92542	NICA_HUMAN	nicastrin	547					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCCTACTTGGGTAAGCATCT	0.443000													30	55					0	0	0.000491102	0	0
BEST3	144453	broad.mit.edu	37	12	70091527	70091527	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:70091527G>A	ENST00000330891.5	-	2	278	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.H18Y|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000551160.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	18						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGTAACCTATGAAATCCAAAA	0.348000													116	26					0	0	0.000781405	0	0
GEMIN5	25929	broad.mit.edu	37	5	154267830	154267830	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:154267830G>A	ENST00000285873.7	-	28	4542	c.4467C>T	c.(4465-4467)ctC>ctT	p.L1489L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1489					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTCTGAAGGAGCTCTTGGG	0.498000													38	46					0	0	0.00170553	0	0
MIR7-3HG	284424	broad.mit.edu	37	19	4770789	4770789	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:4770789G>A	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA																							GACTCCCTTCGACCTTCGCCT	0.577000													27	36					0	0	0.000720815	0	0
SH2B1	25970	broad.mit.edu	37	16	28877985	28877985	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:28877985C>T	ENST00000337120.5	+	1	3861	c.570C>T	c.(568-570)ggC>ggT	p.G190G	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Silent_p.G190G|SH2B1_ENST00000322610.8_Silent_p.G190G|SH2B1_ENST00000395532.4_Silent_p.G190G|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	190	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTCGTCAGGCCCCCCAGTCT	0.652000													29	33					0	0	0.000339439	0	0
PFKM	5213	broad.mit.edu	37	12	48535532	48535532	+	Silent	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:48535532C>A	ENST00000340802.6	+	18	1859	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	PFKM_ENST00000395233.2_Silent_p.P443P|PFKM_ENST00000547587.1_Silent_p.P474P|PFKM_ENST00000359794.5_Silent_p.P474P|PFKM_ENST00000312352.7_Silent_p.P474P|PFKM_ENST00000551804.1_Silent_p.P443P	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	474					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGACTCTACCCAAGAAGAGCT	0.473000													6	128					0.000274275	0.00172819	0.000274275	1	0
OR8H2	390151	broad.mit.edu	37	11	55872560	55872560	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55872560C>T	ENST00000313503.1	+	1	42	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGACTTCATCCTTATGGGAC	0.433000										HNSCC(53;0.14)			45	60					0	0	0.000781405	0	0
ADCY6	112	broad.mit.edu	37	12	49165664	49165664	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:49165664G>A	ENST00000307885.4	-	18	3574	c.2880C>T	c.(2878-2880)ttC>ttT	p.F960F	ADCY6_ENST00000357869.3_Silent_p.F907F|ADCY6_ENST00000550422.1_Silent_p.F907F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	960					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCGGGCCAGGAAGTGGGCCG	0.557000													42	6					0	0	0.000589545	0	0
SNCAIP	9627	broad.mit.edu	37	5	121799218	121799218	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:121799218C>T	ENST00000261367.7	+	14	4427	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S587F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_3'UTR|SNCAIP_ENST00000414317.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S1000F			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATGAAGAAATCCTACAGCATA	0.348000													7	15					0	0	0.000157383	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331376	100331376	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:100331376G>A	ENST00000341853.1	-	0	2815					NR_003260.1																						AATGGCAGAAGAAACTCAACA	0.567000													10	11					0	0	0.000442599	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574820	103574820	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:103574820C>T	ENST00000380069.3	+	10	2018	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	648										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCAGCGGCACCTGGAGACTCT	0.592000													36	65					0	0	0.000509022	0	0
ALPK3	57538	broad.mit.edu	37	15	85383214	85383214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:85383214C>T	ENST00000258888.5	+	5	1477	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	437					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCGCCGGGCCCCTCGGTCCCT	0.667000													14	7					0	0	0.00185496	0	0
IL17RC	84818	broad.mit.edu	37	3	9969872	9969872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:9969872C>T	ENST00000295981.3	+	10	1276	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	IL17RC_ENST00000403601.3_Missense_Mutation_p.S282F|IL17RC_ENST00000416074.2_Missense_Mutation_p.S138F|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.S282F|IL17RC_ENST00000383812.4_Missense_Mutation_p.S267F|IL17RC_ENST00000455057.1_Missense_Mutation_p.S267F	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	353						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						GAACCTGACTCCGTTAGGACG	0.647000													34	57					0	0	0.000692331	0	0
SATB1	6304	broad.mit.edu	37	3	18462346	18462346	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:18462346G>A	ENST00000338745.6	-	2	1848	c.114C>T	c.(112-114)agC>agT	p.S38S	SATB1_ENST00000454909.2_Silent_p.S38S|SATB1_ENST00000417717.2_Silent_p.S38S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Silent_p.S38S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	38					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCCTAGCGGGCTCCCGTTCT	0.512000													33	52					0	0	0.00058488	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938476	2938476	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:2938476G>A	ENST00000378404.2	+	1	431	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	76						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCCCCTTTCGAGCGTGGCCT	0.602000													17	29					0	0	0.00074312	0	0
WDR19	57728	broad.mit.edu	37	4	39255580	39255580	+	Silent	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:39255580C>A	ENST00000399820.3	+	26	3085	c.2931C>A	c.(2929-2931)tcC>tcA	p.S977S	WDR19_ENST00000288634.7_Silent_p.S817S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	977					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGTCATGTCCAAATGCAACA	0.353000													7	128					0.000157383	0.000993792	0.000157383	1	0
NRXN3	9369	broad.mit.edu	37	14	79432563	79432563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:79432563G>A	ENST00000554719.1	+	9	1963	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	NRXN3_ENST00000335750.5_Missense_Mutation_p.G491E	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTCGTTTTGGACTGAGGAAC	0.468000													24	32					0	0	0.000586117	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022598	20022598	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:20022598G>A	ENST00000440926.1	-	10	1349	c.879C>T	c.(877-879)ctC>ctT	p.L293L	SLC18A1_ENST00000276373.5_Silent_p.L293L|SLC18A1_ENST00000437980.1_Silent_p.L293L|SLC18A1_ENST00000381608.4_Silent_p.L293L|SLC18A1_ENST00000265808.7_Silent_p.L293L|SLC18A1_ENST00000519026.1_Silent_p.L293L	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	293					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GAAGCATAAAGAGGGGAGTCC	0.493000													28	34					0	0	0.000339439	0	0
MUC16	94025	broad.mit.edu	37	19	9067149	9067149	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9067149G>A	ENST00000397910.4	-	3	20500	c.20297C>T	c.(20296-20298)tCg>tTg	p.S6766L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6766L(2)|p.S2399L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCGCCATCGAGTGTGTTCC	0.483000													48	51					0	0	0.000781405	0	0
SCN2B	6327	broad.mit.edu	37	11	118039345	118039345	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:118039345G>A	ENST00000278947.5	-	2	433	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	64	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TCCAGTTCAGGGAGAACTGTT	0.587000													67	30					0	0	0.000781405	0	0
DIAPH1	1729	broad.mit.edu	37	5	140962857	140962857	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140962857C>A	ENST00000253811.6	-	6	676	c.536G>T	c.(535-537)tGg>tTg	p.W179L	DIAPH1_ENST00000520569.1_Missense_Mutation_p.W125L|DIAPH1_ENST00000398557.4_Missense_Mutation_p.W179L|DIAPH1_ENST00000398562.2_Missense_Mutation_p.W170L|DIAPH1_ENST00000518047.1_Missense_Mutation_p.W170L|DIAPH1_ENST00000398566.3_Missense_Mutation_p.W170L|DIAPH1_ENST00000389057.5_Missense_Mutation_p.W170L|DIAPH1_ENST00000389054.3_Missense_Mutation_p.W179L			O60610	DIAP1_HUMAN	diaphanous-related formin 1	179	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	p.W179L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTGCACCCAACTGTAAGG	0.408000													8	189					0.000673444	0.00423727	0.000673444	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236762	140236762	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140236762G>A	ENST00000307360.5	+	1	1129	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D377N	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGACCATGATTCAGGAGC	0.502000													48	53					0	0	0.000781405	0	0
CDH16	1014	broad.mit.edu	37	16	66947150	66947150	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66947150C>T	ENST00000299752.4	-	9	1131	c.938G>A	c.(937-939)gGc>gAc	p.G313D	CDH16_ENST00000570262.1_Missense_Mutation_p.G233D|CDH16_ENST00000565796.1_Missense_Mutation_p.G313D|CDH16_ENST00000394055.3_Missense_Mutation_p.G313D|CDH16_ENST00000568632.1_Missense_Mutation_p.G216D	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATAGTCCTCGCCATGGGAATT	0.627000													29	44					0	0	0.000339439	0	0
MXRA5	25878	broad.mit.edu	37	X	3239245	3239245	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:3239245G>A	ENST00000217939.6	-	5	4635	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1494						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGATGGGGACGAGGATGCTGG	0.483000													26	3					0	0	0.000720815	0	0
TLN2	83660	broad.mit.edu	37	15	62993384	62993384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:62993384G>A	ENST00000561311.1	+	16	1897	c.1667G>A	c.(1666-1668)gGa>gAa	p.G556E	TLN2_ENST00000306829.6_Missense_Mutation_p.G556E			Q9Y4G6	TLN2_HUMAN	talin 2	556					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.G556A(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATCACGGCCGGAACGGCTTCA	0.433000													22	30					0	0	0.00188189	0	0
OR4K17	390436	broad.mit.edu	37	14	20586390	20586390	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20586390C>T	ENST00000315543.4	+	1	825	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGCTCACATCACAGTGGTGA	0.428000													9	11					0	0	0.000442599	0	0
RHPN2	85415	broad.mit.edu	37	19	33493201	33493201	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:33493201C>T	ENST00000254260.3	-	9	1092	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCAGGGCCGCGTAGTGGTGG	0.642000													6	46					0	0	0.000274275	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66288844	66288844	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:66288844G>A	ENST00000419755.3	+	9	1016	c.938G>A	c.(937-939)aGa>aAa	p.R313K	BBS1_ENST00000529766.1_3'UTR|ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000537537.1_Missense_Mutation_p.R164K|BBS1_ENST00000455748.2_Missense_Mutation_p.R179K|BBS1_ENST00000318312.7_Missense_Mutation_p.R276K|BBS1_ENST00000393994.2_Intron																							TATATTCTGAGAAGGTAGCCA	0.552000													20	32					0	0	0.000295444	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496691	20496691	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:20496691C>T	ENST00000555186.1	+	0	744					NR_038836.1																						TTGTGAACTCCATGGTTTGAA	0.423000													7	82					0	0	0.000274275	0	0
ACADM	34	broad.mit.edu	37	1	76194104	76194104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:76194104C>T	ENST00000370841.4	+	2	486	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	ACADM_ENST00000420607.2_Missense_Mutation_p.R21C|ACADM_ENST00000541113.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.R17C|ACADM_ENST00000543667.1_Intron	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	17					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AAGTATTTCTCGTTTTCATTG	0.313000													60	84					0	0	0.000781405	0	0
ZNF16	7564	broad.mit.edu	37	8	146171581	146171581	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:146171581G>A	ENST00000276816.4	-	3	198	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF16_ENST00000394909.2_Silent_p.L4L	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCGAGTTCTGAGGCTGGGCA	0.597000													12	19					0	0	0.00185496	0	0
GCK	2645	broad.mit.edu	37	7	44190561	44190561	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:44190561G>A	ENST00000403799.3	-	4	946	c.477C>T	c.(475-477)atC>atT	p.I159I	GCK_ENST00000437084.1_Silent_p.I142I|GCK_ENST00000395796.3_Silent_p.I158I|GCK_ENST00000345378.2_Silent_p.I160I	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	159					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCACCTTATCGATGTCTTCGT	0.567000													135	163					0	0	0.000781405	0	0
RP1L1	94137	broad.mit.edu	37	8	10466594	10466594	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:10466594G>A	ENST00000382483.3	-	4	5237	c.5014C>T	c.(5014-5016)Ccc>Tcc	p.P1672S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1672					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGGCCTTGGGGGACATAGGG	0.627000													23	39					0	0	0.000586117	0	0
CFHR4	10877	broad.mit.edu	37	1	196881972	196881972	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196881972G>A	ENST00000367416.2	+	7	1234	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G120E|CFHR4_ENST00000367418.1_Missense_Mutation_p.G120E	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						tGTAAACCAGGATATGCAACA	0.294000													33	35					0	0	0.00178596	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415004	121415004	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:121415004C>T	ENST00000393667.3	-	13	4476	c.4366G>A	c.(4366-4368)Gat>Aat	p.D1456N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1451N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1451					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCCTCTCATCATGCTCTTTG	0.378000													41	59					0	0	0.000589545	0	0
KAT6A	7994	broad.mit.edu	37	8	41792309	41792309	+	Silent	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:41792309G>T	ENST00000396930.3	-	18	3972	c.3429C>A	c.(3427-3429)tcC>tcA	p.S1143S	KAT6A_ENST00000406337.1_Silent_p.S1143S|KAT6A_ENST00000265713.2_Silent_p.S1143S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1143					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCAAAGGTGTGGATGTATCTG	0.418000													9	367					0.00136819	0.00858408	0.00136819	1	0
EPHB3	2049	broad.mit.edu	37	3	184298565	184298565	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:184298565C>T	ENST00000330394.2	+	13	2889	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	813	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATAGCCTATCGGAAGTTCAC	0.607000													18	23					0	0	0.00074312	0	0
ZNF548	147694	broad.mit.edu	37	19	57911020	57911020	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:57911020G>A	ENST00000366197.5	+	3	1615	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.G467G	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGTGTGGGAAAGCCTTTA	0.448000													21	30					0	0	0.000295444	0	0
OR2G3	81469	broad.mit.edu	37	1	247769009	247769009	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247769009G>A	ENST00000320002.2	+	1	154	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			ACCCTTGTGGGAAACTTCACC	0.448000													63	121					0	0	0.000781405	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600048	81600048	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:81600048C>T	ENST00000356860.3	-	27	2485	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G728E|CACNA2D1_ENST00000535308.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	728						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)	TGCTTTCACTCCCTTGCTGAA	0.338000													13	19					0	0	0.000566183	0	0
ESRP2	80004	broad.mit.edu	37	16	68267908	68267908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:68267908C>T	ENST00000473183.2	-	3	968	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	ESRP2_ENST00000565858.1_Missense_Mutation_p.A144T			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	144					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTCCTGGAGGCCTCGGGGTGC	0.627000													8	10					0	0	0.000274275	0	0
BCR	613	broad.mit.edu	37	22	23615827	23615827	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:23615827C>A	ENST00000305877.8	+	8	2732	c.1981C>A	c.(1981-1983)Ctg>Atg	p.L661M	BCR_ENST00000359540.3_Missense_Mutation_p.L661M	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	661	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GCAGGACTTGCTGAAGCACAC	0.572000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								22	38					3.01185e-09	1.91831e-08	0.000586117	1	0
CFHR2	3080	broad.mit.edu	37	1	196918756	196918756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196918756G>A	ENST00000367415.4	+	2	344	c.230G>A	c.(229-231)tGg>tAg	p.W77*	CFHR2_ENST00000367421.3_Nonsense_Mutation_p.W77*|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	77	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GAAGAAGGATGGTCACCAACA	0.403000													8	42					0	0	0.000673444	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607447	31607447	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:31607447C>T	ENST00000170150.3	+	11	1166	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	324						extracellular region	lipid binding										GGTGCCACACCTGTGGCCATG	0.672000													14	20					0	0	0.000308642	0	0
KMT2C	58508	broad.mit.edu	37	7	151879201	151879201	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:151879201G>A	ENST00000355193.2	-	36	5962	c.5744C>T	c.(5743-5745)tCc>tTc	p.S1915F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S1915F					lysine (K)-specific methyltransferase 2C																		ATTTCTTCTGGAAAAACTATG	0.473000													41	55					0	0	0.00148497	0	0
EPHA8	2046	broad.mit.edu	37	1	22902869	22902869	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22902869G>A	ENST00000166244.3	+	3	391	c.319G>A	c.(319-321)Gac>Aac	p.D107N	EPHA8_ENST00000374644.4_Missense_Mutation_p.D107N|EPHA8_ENST00000538803.1_Missense_Mutation_p.D107N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	107						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACCCTGCGCGACTGCAACAG	0.622000													22	31					0	0	0.00047179	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603243	64603243	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64603243G>A	ENST00000342711.5	-	14	1748	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	583					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTTGGCCTGGGACGACTCCT	0.662000													11	21					0	0	0.000978159	0	0
LOC440040	440040	broad.mit.edu	37	11	49831858	49831858	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:49831858C>T	ENST00000527477.1	+	0	2083																											AAGCCCTCTTCCTTGTGCCTT	0.368000													19	25					0	0	0.000958276	0	0
LOC440040	440040	broad.mit.edu	37	11	49831850	49831850	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:49831850G>A	ENST00000527477.1	+	0	2075																											ATCCCATAAAGCCCTCTTCCT	0.373000													29	25					0	0	0.000878237	0	0
PCDH12	51294	broad.mit.edu	37	5	141337251	141337251	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:141337251C>T	ENST00000231484.3	-	1	1376	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	56	Cadherin 1.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCTCCTCCCGGCCCAGT	0.602000													48	61					0	0	0.000781405	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851482	47851482	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:47851482G>A	ENST00000289672.2	-	50	7564	c.7514C>T	c.(7513-7515)tCc>tTc	p.S2505F	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2505					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCCACCAGGGATGAGGGGAC	0.592000													4	6					0	0	0.00024832	0	0
C1orf158	93190	broad.mit.edu	37	1	12806420	12806420	+	Silent	SNP	G	G	A	rs3192728		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12806420G>A	ENST00000288048.5	+	1	258	c.42G>A	c.(40-42)ccG>ccA	p.P14P	C1orf158_ENST00000376210.3_Silent_p.P14P|C1orf158_ENST00000474179.1_3'UTR	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	14										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTACTCCGAGCTGGCAGA	0.478000													20	35					0	0	0.00188189	0	0
SMO	6608	broad.mit.edu	37	7	128845089	128845089	+	Missense_Mutation	SNP	G	G	A	rs138284001		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:128845089G>A	ENST00000249373.3	+	3	863	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	195					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAGTGCGAAGTGCCCTTGGT	0.582000			Mis		skin basal cell								20	29					0	0	0.00188189	0	0
PDZD2	23037	broad.mit.edu	37	5	32061115	32061115	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:32061115G>A	ENST00000438447.1	+	14	2714	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D776N			O15018	PDZD2_HUMAN	PDZ domain containing 2	776	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAGCCGCGGGGATCAAATCCT	0.493000													26	32					0	0	0.001512	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:5510223C>T	ENST00000322641.5	+	1	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000													18	4					0	0	0.00074312	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860340	228860340	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:228860340G>A	ENST00000392056.3	-	8	4565	c.4519C>T	c.(4519-4521)Ccc>Tcc	p.P1507S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1507S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1507						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGGGTTGGGGGCCTCATCG	0.552000													10	22					0	0	0.000442599	0	0
PLAG1	5324	broad.mit.edu	37	8	57080813	57080813	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:57080813G>A	ENST00000316981.3	-	4	495	c.16C>T	c.(16-18)Cct>Tct	p.P6S	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.P6S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	6	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAATCACCAGGAATGACAGTG	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								4	23					0	0	0.000602214	0	0
USP4	7375	broad.mit.edu	37	3	49362330	49362330	+	Silent	SNP	A	A	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:49362330A>C	ENST00000351842.4	-	5	638	c.630T>G	c.(628-630)ggT>ggG	p.G210G	USP4_ENST00000415188.1_Silent_p.G210G|USP4_ENST00000265560.4_Silent_p.G210G|USP4_ENST00000416417.1_Silent_p.G210G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	210					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTCCTACCTGACCCTGGTATA	0.547000													50	76					0	0	0.000781405	0	0
STAU2	27067	broad.mit.edu	37	8	74464404	74464404	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:74464404G>A	ENST00000355780.5	-	12	1495	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	STAU2_ENST00000522695.1_Missense_Mutation_p.S426L|STAU2_ENST00000524300.1_Missense_Mutation_p.S458L|STAU2_ENST00000521727.1_Missense_Mutation_p.S438L|STAU2_ENST00000521451.1_Missense_Mutation_p.S238L|STAU2_ENST00000522509.1_Missense_Mutation_p.S426L|STAU2_ENST00000523558.1_Missense_Mutation_p.S286L|STAU2_ENST00000519961.1_Missense_Mutation_p.S458L|STAU2_ENST00000521210.1_Missense_Mutation_p.S354L|STAU2_ENST00000517542.1_Missense_Mutation_p.S420L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	458	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGAACTATTCGATGTGGGAGA	0.443000													42	69					0	0	0.000781405	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662229	99662229	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:99662229G>A	ENST00000292450.4	+	4	1575	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Silent_p.E436E|ZSCAN21_ENST00000456748.2_Silent_p.E436E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	471					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGAGAGGGAGAAGCACCGTA	0.468000													24	39					0	0	0.000375601	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229941	140229941	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140229941C>T	ENST00000378122.3	+	1	2585	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P621S|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCATCCCGTTCCGCGT	0.662000													30	25					0	0	0.00058488	0	0
ZNF831	128611	broad.mit.edu	37	20	57766570	57766570	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:57766570C>T	ENST00000371030.2	+	1	496	c.496C>T	c.(496-498)Cac>Tac	p.H166Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	166						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATCCGGTCCCACACGGGTGA	0.617000													39	64					0	0	0.000509022	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886023	88886023	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:88886023G>A	ENST00000319675.3	-	1	273	c.177C>T	c.(175-177)gtC>gtT	p.V59V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	59										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TATGAATCTGGACCTTTTTCC	0.507000													23	41					0	0	0.00047179	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144346	5144346	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:5144346G>A	ENST00000380554.3	+	6	1276	c.624G>A	c.(622-624)tcG>tcA	p.S208S	AKR1C3_ENST00000605149.1_Silent_p.S185S|AKR1C3_ENST00000439082.2_Silent_p.S89S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	208					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.S208S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCTGCAAGTCGAAAGATATTG	0.373000													23	39					0	0	0.000878237	0	0
GPR180	160897	broad.mit.edu	37	13	95273347	95273347	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:95273347C>T	ENST00000376958.4	+	6	777	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	251						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GACATCGCTTCCCAAATTCAG	0.358000													32	45					0	0	0.000814825	0	0
RNF44	22838	broad.mit.edu	37	5	175958548	175958548	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:175958548G>A	ENST00000274811.4	-	4	905	c.381C>T	c.(379-381)atC>atT	p.I127I	RNF44_ENST00000537487.1_Silent_p.I46I	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	127	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGCCAGGGATGTGCTGGC	0.627000													6	9					0	0	0.00116845	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454074	37454074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:37454074G>A	ENST00000374660.1	+	18	1986	c.1887G>A	c.(1885-1887)tgG>tgA	p.W629*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.W629*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W629*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	685						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAATTCTTGGGATACTGAGG	0.323000													21	34					0	0	0.000295444	0	0
PDPR	55066	broad.mit.edu	37	16	70162962	70162962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:70162962G>A	ENST00000288050.4	+	6	1501	c.544G>A	c.(544-546)Gag>Aag	p.E182K	PDPR_ENST00000398122.3_Missense_Mutation_p.E82K|PDPR_ENST00000568530.1_Missense_Mutation_p.E182K	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	182					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GCATGTTCCCGAGGATGCAGT	0.532000													92	180					0	0	0.000781405	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712962	70712962	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:70712962G>A	ENST00000530196.1	-	0	1556					NR_003951.1																						ATTCTGGAAGGTCACATTCAT	0.483000													16	15					0	0	0.00074312	0	0
SSPO	23145	broad.mit.edu	37	7	149510776	149510776	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:149510776C>T	ENST00000378016.2	+	0	10061							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTACTGAGTTCCAACGGGGCC	0.667000													10	5					0	0	0.000673444	0	0
TLN2	83660	broad.mit.edu	37	15	62993383	62993383	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:62993383G>A	ENST00000561311.1	+	16	1896	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	TLN2_ENST00000306829.6_Missense_Mutation_p.G556R			Q9Y4G6	TLN2_HUMAN	talin 2	556					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TATCACGGCCGGAACGGCTTC	0.438000													21	30					0	0	0.00152264	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162472	33162472	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:33162472G>A	ENST00000510327.1	-	0	346																											TTGGACGTGGGGGAATTTCTC	0.527000													11	5					0	0	0.000673444	0	0
ZNF782	158431	broad.mit.edu	37	9	99580959	99580959	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:99580959G>A	ENST00000481138.1	-	6	2007	c.1346C>T	c.(1345-1347)cCa>cTa	p.P449L	ZNF782_ENST00000535338.1_Missense_Mutation_p.P317L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACATTCGAATGGTTTCTCCCC	0.413000													52	22					0	0	0.000781405	0	0
GJA3	2700	broad.mit.edu	37	13	20716951	20716951	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:20716951G>A	ENST00000241125.3	-	2	653	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	159					cell-cell signaling|visual perception	connexon complex|integral to membrane		p.F159F(1)		NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCCCACCTCGAACAGCGTCT	0.652000													17	21					0	0	0.000566183	0	0
COL21A1	81578	broad.mit.edu	37	6	56044666	56044666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:56044666C>T	ENST00000244728.5	-	3	747	c.350G>A	c.(349-351)gGg>gAg	p.G117E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G117E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G117E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	117	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GATGGCCTTCCCTGTCTTTGT	0.473000													11	25					0	0	0.00136819	0	0
OR2F1	26211	broad.mit.edu	37	7	143657367	143657367	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143657367T>A	ENST00000392899.1	+	1	341	c.304T>A	c.(304-306)Ttt>Att	p.F102I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGCCCAGTTATTTTTCTCCCT	0.527000													46	60					0	0	0.000781405	0	0
TACC2	10579	broad.mit.edu	37	10	123971070	123971070	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:123971070C>T	ENST00000369005.1	+	9	7470	c.7130C>T	c.(7129-7131)tCc>tTc	p.S2377F	TACC2_ENST00000368999.1_Missense_Mutation_p.S455F|TACC2_ENST00000260733.3_Missense_Mutation_p.S455F|TACC2_ENST00000358010.1_Missense_Mutation_p.S523F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2381F|TACC2_ENST00000513429.1_Missense_Mutation_p.S523F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2377F|TACC2_ENST00000369004.3_Missense_Mutation_p.S455F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2332F|TACC2_ENST00000369001.1_Missense_Mutation_p.S81F|TACC2_ENST00000360561.3_Missense_Mutation_p.S455F|TACC2_ENST00000369000.1_Missense_Mutation_p.S81F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2381F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2377	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTGATGAGTCCGTTGACCCC	0.493000													74	84					0	0	0.000781405	0	0
SSFA2	6744	broad.mit.edu	37	2	182765502	182765502	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:182765502G>A	ENST00000431877.2	+	7	762	c.583G>A	c.(583-585)Gat>Aat	p.D195N	SSFA2_ENST00000320370.7_Missense_Mutation_p.D195N|SSFA2_ENST00000409001.1_Missense_Mutation_p.D195N|SSFA2_ENST00000428267.2_Missense_Mutation_p.D42N	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	195						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGATGAACCAGATATTGCTTC	0.343000													20	40					0	0	0.00121646	0	0
MYLK3	91807	broad.mit.edu	37	16	46781899	46781899	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:46781899G>A	ENST00000394809.4	-	1	322	c.207C>T	c.(205-207)gcC>gcT	p.A69A	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	69					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTGCCCGGGAGGCCTCCAGCC	0.672000													15	23					0	0	0.000219431	0	0
FGF9	2254	broad.mit.edu	37	13	22275499	22275499	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:22275499C>T	ENST00000382353.5	+	3	1082	c.552C>T	c.(550-552)ttC>ttT	p.F184F	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	184					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACCAGAAATTCACACATTTTT	0.433000													12	29					0	0	0.00136819	0	0
PTPRS	5802	broad.mit.edu	37	19	5212122	5212122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:5212122G>A	ENST00000372412.4	-	32	5145	c.4912C>T	c.(4912-4914)Cag>Tag	p.Q1638*	PTPRS_ENST00000587303.1_Nonsense_Mutation_p.Q1637*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1599*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1637*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1190*|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1617*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1599*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1190*			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1637	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AAGCTGTACTGGTCCTCCGTC	0.602000													30	29					0	0	0.00111076	0	0
MUC6	4588	broad.mit.edu	37	11	1017853	1017853	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:1017853T>C	ENST00000421673.2	-	31	4998	c.4948A>G	c.(4948-4950)Aca>Gca	p.T1650A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1650	Approximate repeats.|Pro-rich.|Thr-rich.				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)		ATCGTGCCTGTTGGCATTGAG	0.582000													17	500					0	0	0.00127121	0	0
VWA7	80737	broad.mit.edu	37	6	31734488	31734488	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31734488G>A	ENST00000375686.3	-	14	2173	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	VWA7_ENST00000447450.1_Missense_Mutation_p.S639F|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P646S	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	646						extracellular region											GGATCCCCAGGATTGGCTCTG	0.617000													137	102					0	0	0.000781405	0	0
KIF13B	23303	broad.mit.edu	37	8	29033619	29033619	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:29033619G>A	ENST00000524189.1	-	10	949	c.911C>T	c.(910-912)cCa>cTa	p.P304L	KIF13B_ENST00000521515.1_Missense_Mutation_p.P304L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	304					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTCACGATATGGAACAAATTT	0.428000													8	22					0	0	0.000274275	0	0
HYAL4	23553	broad.mit.edu	37	7	123508836	123508836	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:123508836T>C	ENST00000223026.4	+	3	1147	c.509T>C	c.(508-510)cTt>cCt	p.L170P	HYAL4_ENST00000476325.1_Missense_Mutation_p.L170P	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	170					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAGAAAGCTTATTTCCGAT	0.403000													32	42					0	0	0.000409698	0	0
HOXB13	10481	broad.mit.edu	37	17	46805734	46805734	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:46805734G>A	ENST00000290295.7	-	1	806	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	74					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CGGGAGCTGGGGACGTCCCCT	0.662000													24	62					0	0	0.000586117	0	0
PSD	5662	broad.mit.edu	37	10	104176224	104176224	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:104176224G>A	ENST00000020673.5	-	2	1098	c.572C>T	c.(571-573)tCt>tTt	p.S191F	PSD_ENST00000406432.1_Missense_Mutation_p.S191F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	191					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATTGGGGAGAGAGGAGTAAAG	0.657000													11	19					0	0	0.000978159	0	0
FSIP1	161835	broad.mit.edu	37	15	40068663	40068663	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:40068663G>A	ENST00000350221.3	-	2	272	c.63C>T	c.(61-63)cgC>cgT	p.R21R	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	21										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGCTCCCAGGGCGTATTCTTG	0.353000													39	63					0	0	0.000437636	0	0
GJA1	2697	broad.mit.edu	37	6	121768668	121768668	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:121768668C>T	ENST00000282561.3	+	2	832	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	225					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.I225I(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCTTGAATATCATTGAACTCT	0.522000													54	28					0	0	0.000781405	0	0
SSFA2	6744	broad.mit.edu	37	2	182780654	182780654	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:182780654G>A	ENST00000431877.2	+	11	2466	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	SSFA2_ENST00000320370.7_Missense_Mutation_p.E763K|SSFA2_ENST00000409136.1_Missense_Mutation_p.E272K|SSFA2_ENST00000409001.1_Missense_Mutation_p.E763K|SSFA2_ENST00000428267.2_Missense_Mutation_p.E610K	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	763						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCAGGAAAAGAGACCAGATG	0.468000													23	37					0	0	0.00047179	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968836	210968836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:210968836C>T	ENST00000281772.9	-	4	1683	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KANSL1L_ENST00000452086.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000457374.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.E474K	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	474																	ACCTGTTTTTCGATGTTTCGA	0.368000													18	28					0	0	0.00152264	0	0
DNAH2	146754	broad.mit.edu	37	17	7679359	7679359	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7679359G>A	ENST00000572933.1	+	31	6299	c.4839G>A	c.(4837-4839)gtG>gtA	p.V1613V	DNAH2_ENST00000389173.2_Silent_p.V1613V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1613	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGGCGATGTGGAACAGACCA	0.617000													23	36					0	0	0.00127121	0	0
SSTR1	6751	broad.mit.edu	37	14	38679115	38679115	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:38679115C>T	ENST00000267377.2	+	3	1138	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	174					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCCACCGTGGCCAAGGTAGTA	0.642000													20	21					0	0	0.00152264	0	0
DDX52	11056	broad.mit.edu	37	17	36002295	36002295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:36002295G>A	ENST00000349699.2	-	2	173	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	44						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCCAGTCCCTGAAGCACCTCC	0.393000													14	35					0	0	0.00185496	0	0
LPHN2	23266	broad.mit.edu	37	1	82431791	82431791	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:82431791A>T	ENST00000370728.1	+	14	2700	c.2055A>T	c.(2053-2055)aaA>aaT	p.K685N	LPHN2_ENST00000370717.2_Missense_Mutation_p.K685N|LPHN2_ENST00000319517.6_Missense_Mutation_p.K672N|LPHN2_ENST00000370725.1_Missense_Mutation_p.K685N|LPHN2_ENST00000335786.5_Missense_Mutation_p.K685N|LPHN2_ENST00000271029.4_Missense_Mutation_p.K685N|LPHN2_ENST00000359929.3_Missense_Mutation_p.K672N|LPHN2_ENST00000370715.1_Missense_Mutation_p.K672N|LPHN2_ENST00000370721.1_Missense_Mutation_p.K610N|LPHN2_ENST00000370723.1_Missense_Mutation_p.K672N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.K672N|LPHN2_ENST00000370727.1_Missense_Mutation_p.K685N|LPHN2_ENST00000370730.1_Missense_Mutation_p.K685N|LPHN2_ENST00000370713.1_Missense_Mutation_p.K672N			O95490	LPHN2_HUMAN	latrophilin 2	685					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGACTTTAAATTTCCTCTGG	0.438000													22	34					0	0	0.00152264	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247269	142247269	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142247269C>T	ENST00000390361.3	-	0	236																											ATTAGAAACTCTGGGCCCTGC	0.527000													31	22					0	0	0.000339439	0	0
PLCB4	5332	broad.mit.edu	37	20	9404511	9404511	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:9404511C>T	ENST00000378501.2	+	24	2415	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.S800S|PLCB4_ENST00000378473.3_Silent_p.S812S|PLCB4_ENST00000414679.2_Silent_p.S812S|PLCB4_ENST00000334005.3_Silent_p.S800S|PLCB4_ENST00000378493.1_Silent_p.S800S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	800					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACACATTTCCCTTCGAAATG	0.413000													11	7					0	0	0.000673444	0	0
FAM3D	131177	broad.mit.edu	37	3	58631246	58631246	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:58631246C>T	ENST00000358781.2	-	5	563	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	85					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATGCGGTCTTCAAAGCACATA	0.428000													12	12					0	0	0.000978159	0	0
PTPRS	5802	broad.mit.edu	37	19	5245958	5245958	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:5245958T>C	ENST00000372412.4	-	10	1053	c.820A>G	c.(820-822)Atg>Gtg	p.M274V	PTPRS_ENST00000348075.2_Missense_Mutation_p.M260V|PTPRS_ENST00000357368.4_Missense_Mutation_p.M273V|PTPRS_ENST00000353284.2_Missense_Mutation_p.M260V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.M269V|PTPRS_ENST00000587303.1_Missense_Mutation_p.M273V|PTPRS_ENST00000588012.1_Missense_Mutation_p.M260V|PTPRS_ENST00000592099.1_Missense_Mutation_p.M260V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	273	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACGTATGGCATGGGCGAGCCC	0.647000													5	7					0	0	0.00116845	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881161	35881161	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:35881161C>T	ENST00000314607.6	+	28	4235	c.4155C>T	c.(4153-4155)ttC>ttT	p.F1385F	ZMYM4_ENST00000373297.2_Silent_p.F1296F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1385					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTCCTTTTCTTCAATACCA	0.448000													22	44					0	0	0.000375601	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55541558C>T	ENST00000361760.1	+	1	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000													8	19					0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82579434	82579434	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:82579434C>T	ENST00000423517.2	-	6	10807	c.10470G>A	c.(10468-10470)agG>agA	p.R3490R	PCLO_ENST00000333891.8_Silent_p.R3490R|PCLO_ENST00000437081.1_Silent_p.R210R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3421					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACGAGCTTTCCTCCTTGATC	0.458000													17	26					0	0	0.00121646	0	0
PIGR	5284	broad.mit.edu	37	1	207105032	207105032	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:207105032G>A	ENST00000356495.4	-	9	2307	c.2124C>T	c.(2122-2124)tcC>tcT	p.S708S	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	708						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCCTCCGAGGGATGTCTCCT	0.507000													59	46					0	0	0.000781405	0	0
RP1L1	94137	broad.mit.edu	37	8	10466595	10466595	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:10466595G>A	ENST00000382483.3	-	4	5236	c.5013C>T	c.(5011-5013)tcC>tcT	p.S1671S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1671					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGCCTTGGGGGACATAGGGC	0.627000													23	37					0	0	0.000586117	0	0
LRMP	4033	broad.mit.edu	37	12	25232684	25232684	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:25232684G>A	ENST00000354454.3	+	8	1060	c.231G>A	c.(229-231)acG>acA	p.T77T	LRMP_ENST00000548766.1_Silent_p.T77T|LRMP_ENST00000547044.1_Silent_p.T77T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	133					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTTCTCCCACGATAGAGGCCC	0.403000													30	8					0	0	0.00106085	0	0
PSG4	5672	broad.mit.edu	37	19	43699279	43699279	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43699279C>T	ENST00000405312.3	-	4	1093	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PSG4_ENST00000433626.2_Missense_Mutation_p.V193I|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	286	Ig-like C2-type 2.		V -> A (in dbSNP:rs2355442).		defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCGCTTTACCCTGGGACTG	0.448000													85	121					0	0	0.000781405	0	0
PLCL2	23228	broad.mit.edu	37	3	17109548	17109548	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:17109548C>T	ENST00000418129.2	+	5	3282	c.2817C>T	c.(2815-2817)acC>acT	p.T939T	PLCL2_ENST00000432376.1_Silent_p.T939T|PLCL2_ENST00000396755.2_Silent_p.T939T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1065					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGAATATTACCATCTTAAAGG	0.403000													17	49					0	0	0.000958276	0	0
NPY4R	5540	broad.mit.edu	37	10	47087533	47087533	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:47087533G>A	ENST00000374312.1	+	3	1169	c.750G>A	c.(748-750)aaG>aaA	p.K250K	NPY4R_ENST00000395716.1_Silent_p.K250K	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGTTTCACAAGGGCACCTACA	0.597000													14	102					0	0	0.000219431	0	0
TMEM66	51669	broad.mit.edu	37	8	29931525	29931525	+	Silent	SNP	G	G	A	rs80342246		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:29931525G>A	ENST00000256255.6	-	2	407	c.150C>T	c.(148-150)gaC>gaT	p.D50D	TMEM66_ENST00000521083.1_5'UTR|TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_Intron	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	50						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TGGTATAGCGGTCATAGTGGA	0.468000													30	56					0	0	0.001512	0	0
NRXN1	9378	broad.mit.edu	37	2	50850507	50850507	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:50850507C>T	ENST00000404971.1	-	7	2517	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	NRXN1_ENST00000402717.3_Missense_Mutation_p.G360E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G360E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.G360E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G360E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G360E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTAAACTTTCCATTCACAGG	0.458000													6	11					0	0	0.00116845	0	0
CAMKV	79012	broad.mit.edu	37	3	49898401	49898401	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:49898401C>T	ENST00000477224.1	-	7	1091	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	CAMKV_ENST00000296471.7_Intron|CAMKV_ENST00000467248.1_Missense_Mutation_p.A130T|CAMKV_ENST00000466940.1_Missense_Mutation_p.A162T|CAMKV_ENST00000488336.1_Missense_Mutation_p.A205T|CAMKV_ENST00000463537.1_Missense_Mutation_p.A205T			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	205	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTCCAATGGCCCAGCAGTCC	0.592000													22	23					0	0	0.000878237	0	0
LDHD	197257	broad.mit.edu	37	16	75148832	75148832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:75148832C>T	ENST00000300051.4	-	4	408	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	LDHD_ENST00000450168.2_Missense_Mutation_p.R121Q	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	121	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTCCAGGATTCGGTCCATATG	0.632000													19	37					0	0	0.00152264	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480236	140480236	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140480236G>A	ENST00000231130.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		1					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGTGCAATGGAGGCGGGAG	0.527000													25	42					0	0	0.00127121	0	0
TPTE2	93492	broad.mit.edu	37	13	20048054	20048054	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:20048054C>T	ENST00000400230.2	-	6	436	c.392_splice	c.e6+1	p.G131_splice	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Splice_Site_p.G94_splice|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.G131_splice|TPTE2_ENST00000390680.2_Splice_Site_p.G94_splice|TPTE2_ENST00000382975.4_Splice_Site_p.G131_splice|TPTE2_ENST00000382978.1_Splice_Site_p.G131_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	131						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCAAACTTACCCTTCTACAAA	0.363000													12	21					0	0	0.00136819	0	0
IFT172	26160	broad.mit.edu	37	2	27676565	27676565	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27676565G>T	ENST00000260570.3	-	34	3856	c.3753C>A	c.(3751-3753)gaC>gaA	p.D1251E		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1251					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGCACATAGTCCTTGCAGA	0.577000													26	37					1.68575e-08	1.07214e-07	0.00127121	1	0
MCM6	4175	broad.mit.edu	37	2	136614338	136614338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:136614338C>T	ENST00000264156.2	-	11	1646	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	529	MCM.				cell cycle checkpoint|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	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GAGATCGAATCGGGACATGAT	0.423000													28	35					0	0	0.000878237	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850215	38850215	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38850215G>A	ENST00000409235.3	+	14	1717	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	CATSPERG_ENST00000410018.1_Silent_p.T494T|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	534					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCACAGAGACGGAGGAGGTGG	0.597000													12	17					0	0	0.000978159	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168930	142168930	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142168930C>T	ENST00000454561.2	-	0	115																											CCTTGATTTTCCTAATAGGAG	0.572000													6	4					0	0	0.00116845	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170241	32170241	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:32170241G>A	ENST00000375023.3	-	21	3505	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1123	EGF-like 28.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGCAGTCAGGACCCCCATAG	0.652000													121	255					0	0	0.000781405	0	0
TP63	8626	broad.mit.edu	37	3	189526244	189526244	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:189526244G>A	ENST00000264731.3	+	4	597	c.508G>A	c.(508-510)Gac>Aac	p.D170N	TP63_ENST00000437221.1_Missense_Mutation_p.D76N|TP63_ENST00000320472.5_Missense_Mutation_p.D170N|TP63_ENST00000392460.3_Missense_Mutation_p.D170N|TP63_ENST00000354600.5_Missense_Mutation_p.D76N|TP63_ENST00000392463.2_Missense_Mutation_p.D76N|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Missense_Mutation_p.D76N|TP63_ENST00000456148.1_Missense_Mutation_p.D76N|TP63_ENST00000418709.2_Missense_Mutation_p.D170N|TP63_ENST00000440651.2_Missense_Mutation_p.D170N|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	170					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCAACACCGACTACCCAGG	0.647000										HNSCC(45;0.13)			17	19					0	0	0.000422831	0	0
AFF2	2334	broad.mit.edu	37	X	147743491	147743491	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:147743491G>A	ENST00000370460.2	+	3	722	c.243G>A	c.(241-243)atG>atA	p.M81I	AFF2_ENST00000342251.3_Missense_Mutation_p.M77I|AFF2_ENST00000370458.1_Missense_Mutation_p.M77I|AFF2_ENST00000370457.5_Missense_Mutation_p.M77I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	81					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGAAATGAAGAATTTGC	0.403000													75	13					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122002653	122002653	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:122002653C>T	ENST00000498619.1	+	7	2320	c.1882C>T	c.(1882-1884)Ctc>Ttc	p.L628F	CASR_ENST00000296154.5_Missense_Mutation_p.L618F|CASR_ENST00000490131.1_Missense_Mutation_p.L618F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	618					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGCACTCACCCTCTTTGCCGT	0.547000													25	43					0	0	0.000375601	0	0
CPB1	1360	broad.mit.edu	37	3	148577634	148577634	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:148577634T>G	ENST00000491148.1	+	12	1433	c.1099T>G	c.(1099-1101)Tat>Gat	p.Y367D	RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.Y367D|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	367					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGACTGGGCTTATGACCAAGG	0.453000													41	54					0	0	0.000437636	0	0
PREX2	80243	broad.mit.edu	37	8	68992720	68992720	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:68992720G>T	ENST00000288368.4	+	16	1962	c.1685G>T	c.(1684-1686)cGt>cTt	p.R562L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCG	0.328000													16	40					1.15919e-05	7.33015e-05	0.00121646	1	0
ITGB3	3690	broad.mit.edu	37	17	45369600	45369600	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:45369600C>T	ENST00000560629.1	+	10	1321	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	ITGB3_ENST00000559488.1_Silent_p.I452I|ITGB3_ENST00000435993.2_Silent_p.I405I			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ACAGCCTGATCGTCCAGGTCA	0.547000													25	35					0	0	0.00047179	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125282009	125282009	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:125282009G>A	ENST00000431078.1	+	9	1818	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	485	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATTTATTCTGGAAATAGCTAC	0.453000													4	4					0	0	0.00024832	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180868	43180868	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:43180868G>A	ENST00000398795.2	+	5	917	c.549G>A	c.(547-549)atG>atA	p.M183I	TNFSF11_ENST00000544862.1_Missense_Mutation_p.M183I|TNFSF11_ENST00000358545.2_Missense_Mutation_p.M183I|TNFSF11_ENST00000239849.6_Missense_Mutation_p.M256I|TNFSF11_ENST00000405262.2_Missense_Mutation_p.M183I	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	256					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATACCCTGATGAAAGGAGGAA	0.398000													28	48					0	0	0.00127121	0	0
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:159169596C>T	ENST00000368125.4	+	8	1165	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.I370I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	336					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.I370I(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557000													27	53					0	0	0.00178596	0	0
CSMD3	114788	broad.mit.edu	37	8	113275990	113275990	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:113275990G>T	ENST00000297405.5	-	61	9984	c.9740C>A	c.(9739-9741)aCa>aAa	p.T3247K	CSMD3_ENST00000455883.2_Missense_Mutation_p.T3078K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3177K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3207K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3247	Sushi 25.					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						GTCGAAATTTGTTCCTTCCAG	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	9					1.52009e-12	9.74517e-12	0.000308642	1	0
DYTN	391475	broad.mit.edu	37	2	207564565	207564565	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:207564565G>A	ENST00000452335.2	-	7	721	c.605C>T	c.(604-606)tCt>tTt	p.S202F	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	202						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGGAGGCTCAGATTGGACCCA	0.502000													12	16					0	0	0.00136819	0	0
OR10H5	284433	broad.mit.edu	37	19	15905710	15905710	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15905710C>T	ENST00000308940.8	+	1	950	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTCACACCCTTCCTCAGCC	0.527000													11	14					0	0	0.000308642	0	0
ZNF667	63934	broad.mit.edu	37	19	56952992	56952992	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:56952992G>A	ENST00000504904.3	-	7	2091	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	ZNF667_ENST00000342634.3_Missense_Mutation_p.L586F|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.L458F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGTTCAATAAGAAATGATTGG	0.373000													22	31					0	0	0.000586117	0	0
DLL4	54567	broad.mit.edu	37	15	41224428	41224428	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:41224428C>T	ENST00000249749.5	+	5	994	c.719_splice	c.e5+1	p.L240_splice		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	240	EGF-like 1.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCAGAGTGCCTGTGAGTAGG	0.582000													25	38					0	0	0.000375601	0	0
CDH16	1014	broad.mit.edu	37	16	66947151	66947151	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66947151C>T	ENST00000299752.4	-	9	1130	c.937G>A	c.(937-939)Ggc>Agc	p.G313S	CDH16_ENST00000570262.1_Missense_Mutation_p.G233S|CDH16_ENST00000565796.1_Missense_Mutation_p.G313S|CDH16_ENST00000394055.3_Missense_Mutation_p.G313S|CDH16_ENST00000568632.1_Missense_Mutation_p.G216S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TAGTCCTCGCCATGGGAATTC	0.627000													28	45					0	0	0.001512	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183590	11183590	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:11183590G>A	ENST00000390675.2	-	1	416	c.345C>T	c.(343-345)aaC>aaT	p.N115N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	115					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GAAAAATAAGGTTGGAGAAAT	0.398000													62	67					0	0	0.000781405	0	0
PCED1B	91523	broad.mit.edu	37	12	47629825	47629825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:47629825C>T	ENST00000546455.1	+	4	1710	c.979C>T	c.(979-981)Cac>Tac	p.H327Y	PCED1B_ENST00000432328.1_Missense_Mutation_p.H327Y					PC-esterase domain containing 1B																		cATTCTCCATCACCAGGGAAT	0.597000													70	14					0	0	0.000781405	0	0
OR51M1	390059	broad.mit.edu	37	11	5411135	5411135	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:5411135C>T	ENST00000328611.3	+	1	529	c.507C>T	c.(505-507)atC>atT	p.I169I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	169						integral to membrane	olfactory receptor activity	p.I169>?(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCACTATCCCTATTGTCC	0.547000													136	24					0	0	0.000781405	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586583	15586583	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15586583G>A	ENST00000292609.4	-	2	1027	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	PGLYRP2_ENST00000340880.4_Silent_p.L300L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	300					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TACTGGCTCAGCAAGTGGCTG	0.622000													19	18					0	0	0.00074312	0	0
SOGA1	140710	broad.mit.edu	37	20	35444327	35444327	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35444327C>T	ENST00000237536.4	-	5	1859	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	SOGA1_ENST00000357779.3_Silent_p.G268G|SOGA1_ENST00000279034.5_Silent_p.G268G|SOGA1_ENST00000456801.2_Silent_p.G109G	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	268										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAAGCTCTCCCCGCACTCTC	0.667000													7	7					0	0	8.12818e-05	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775390	234775390	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:234775390G>A	ENST00000438684.1	-	0	724					NR_024322.1																						CGGCCTGGATGGATTCAACAA	0.522000													8	7					0	0	0.000157383	0	0
DIDO1	11083	broad.mit.edu	37	20	61528167	61528167	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:61528167G>A	ENST00000266070.4	-	7	2095	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	DIDO1_ENST00000395343.1_Silent_p.F590F|DIDO1_ENST00000395340.1_Silent_p.F590F|DIDO1_ENST00000395335.2_Silent_p.F590F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	590					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGTGCCCTTGAAACCTGAGG	0.597000													45	50					0	0	0.000781405	0	0
THBS1	7057	broad.mit.edu	37	15	39874510	39874510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:39874510G>A	ENST00000260356.5	+	3	349	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	62	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TTTCCGCATCGAGGATGCCAA	0.617000													13	29					0	0	0.00185496	0	0
NPC1L1	29881	broad.mit.edu	37	7	44576027	44576027	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:44576027C>T	ENST00000289547.4	-	4	1737	c.1681_splice	c.e4-1	p.G561_splice	NPC1L1_ENST00000546276.1_Splice_Site_p.G561_splice|NPC1L1_ENST00000381160.3_Splice_Site_p.G561_splice|NPC1L1_ENST00000423141.1_Splice_Site_p.G561_splice	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	561					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATAGTCCTTTCCTGGGATAAG	0.602000													36	37					0	0	0.00111076	0	0
ABCA6	23460	broad.mit.edu	37	17	67096943	67096943	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:67096943G>A	ENST00000284425.2	-	22	3181	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1003					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTACAAGAGGAAATGGGCTT	0.318000													27	12					0	0	0.001512	0	0
DCHS2	54798	broad.mit.edu	37	4	155312327	155312327	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:155312327C>T	ENST00000357232.3	-	1	122	c.123G>A	c.(121-123)gtG>gtA	p.V41V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	41					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTGAGATTTCACAATGGAAT	0.323000													4	20					0	0	0.00024832	0	0
LTBP2	4053	broad.mit.edu	37	14	74969359	74969359	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:74969359G>A	ENST00000261978.4	-	34	5553	c.5167C>T	c.(5167-5169)Cca>Tca	p.P1723S	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1679S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1723					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACAGACCTGGATGGCTGGCC	0.582000													21	41					0	0	0.00152264	0	0
LRRC48	83450	broad.mit.edu	37	17	17881042	17881042	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:17881042G>A	ENST00000313838.8	+	4	509	c.130G>A	c.(130-132)Gat>Aat	p.D44N	LRRC48_ENST00000411504.2_Missense_Mutation_p.D44N|LRRC48_ENST00000584166.1_Missense_Mutation_p.D44N|LRRC48_ENST00000399182.1_Missense_Mutation_p.D44N|LRRC48_ENST00000399187.1_Missense_Mutation_p.D44N	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	44						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CCTCTTCAAGGATGTCCTGTC	0.627000													13	19					0	0	0.00185496	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7527156	7527156	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:7527156C>T	ENST00000593531.1	+	14	1880	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	ARHGEF18_ENST00000359920.6_Silent_p.F669F|ARHGEF18_ENST00000319670.9_Silent_p.F511F																							GAGGCCTATTCCGTGGAGGGG	0.607000													17	25					0	0	0.00152264	0	0
TRPM2	7226	broad.mit.edu	37	21	45846545	45846545	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:45846545G>A	ENST00000397928.1	+	26	4243	c.3798G>A	c.(3796-3798)acG>acA	p.T1266T	TRPM2_ENST00000300482.5_Silent_p.T1266T|TRPM2_ENST00000397932.2_Silent_p.T1316T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.T1246T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1266						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCGACAGACGGAGTTCCTGA	0.587000													29	53					0	0	0.00111076	0	0
OR10S1	219873	broad.mit.edu	37	11	123847640	123847640	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:123847640G>A	ENST00000531945.1	-	1	848	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGTGCAGGGGGAGAAGGCCC	0.632000													30	9					0	0	0.000339439	0	0
OR2W3	343171	broad.mit.edu	37	1	248059530	248059530	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248059530C>T	ENST00000537741.1	+	3	899	c.642C>T	c.(640-642)atC>atT	p.I214I	OR2W3_ENST00000360358.3_Silent_p.I214I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TGGTGTTTATCCTGCTCTCTT	0.587000													97	75					0	0	0.000781405	0	0
FBF1	85302	broad.mit.edu	37	17	73924191	73924191	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73924191C>T	ENST00000586717.1	-	7	594	c.321G>A	c.(319-321)ggG>ggA	p.G107G	FBF1_ENST00000319129.5_Silent_p.G107G|FBF1_ENST00000389570.4_Silent_p.G107G			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	107										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCTCTCCTTTCCCAGGGTCCT	0.542000													45	29					0	0	0.000781405	0	0
PARP8	79668	broad.mit.edu	37	5	50090706	50090706	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:50090706C>T	ENST00000281631.5	+	12	1041	c.883C>T	c.(883-885)Cct>Tct	p.P295S	PARP8_ENST00000514342.2_Missense_Mutation_p.P48S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.P295S|PARP8_ENST00000514067.2_Missense_Mutation_p.P295S|PARP8_ENST00000503750.2_Missense_Mutation_p.P295S|PARP8_ENST00000505554.1_Missense_Mutation_p.P274S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	295						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTATCCTCCCCCTGGTTGTGG	0.463000													11	25					0	0	0.000978159	0	0
OR1B1	347169	broad.mit.edu	37	9	125391741	125391741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:125391741G>A	ENST00000304833.3	-	1	111	c.74C>T	c.(73-75)tCc>tTc	p.S25F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGAGTGTAGGAGATGTTAGC	0.512000													17	6					0	0	0.00074312	0	0
EGF	1950	broad.mit.edu	37	4	110880567	110880567	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:110880567T>A	ENST00000265171.5	+	6	1485	c.1040T>A	c.(1039-1041)cTa>cAa	p.L347Q	EGF_ENST00000503392.1_Missense_Mutation_p.L347Q|EGF_ENST00000509793.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	347	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGATACGCCCTAAGTCGAGAC	0.512000													11	12					0	0	0.00136819	0	0
RFX6	222546	broad.mit.edu	37	6	117248462	117248462	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:117248462C>T	ENST00000332958.2	+	17	2174	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	720					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTCTATCCTCATCACACCGA	0.527000													12	4					0	0	0.000978159	0	0
ZNF174	7727	broad.mit.edu	37	16	3454685	3454685	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:3454685C>T	ENST00000572544.1	+	2	693	c.662C>T	c.(661-663)cCt>cTt	p.P221L	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Intron|ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000268655.4_Intron|ZNF174_ENST00000344823.5_Intron			Q15697	ZN174_HUMAN	zinc finger protein 174	0					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CTCATCAGCCCTTTATCTCCA	0.418000													15	11					0	0	0.000219431	0	0
PRUNE	58497	broad.mit.edu	37	1	151006312	151006312	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:151006312C>T	ENST00000271620.3	+	8	1120	c.964C>T	c.(964-966)Cca>Tca	p.P322S	PRUNE_ENST00000271619.8_Missense_Mutation_p.P110S|PRUNE_ENST00000368934.1_Missense_Mutation_p.P87S|PRUNE_ENST00000368936.1_Missense_Mutation_p.P140S|PRUNE_ENST00000368937.1_Missense_Mutation_p.P87S|PRUNE_ENST00000368935.1_Missense_Mutation_p.P37S	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	322						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCCACTCTCCACCCCTGAA	0.512000													42	131					0	0	0.000680045	0	0
TRDN	10345	broad.mit.edu	37	6	123673700	123673700	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:123673700G>A	ENST00000334268.4	-	21	1670	c.1353C>T	c.(1351-1353)acC>acT	p.T451T	TRDN_ENST00000398178.3_Silent_p.T451T			Q13061	TRDN_HUMAN	triadin	451					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCACTGTCTTGGTTGTTTTCT	0.398000													6	0					0	0	0.000157383	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433576	69433576	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:69433576C>T	ENST00000317746.2	-	1	669	c.627G>A	c.(625-627)atG>atA	p.M209I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	209					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTATCCTCTCCATGAAAATCA	0.353000													33	3					0	0	0.000409698	0	0
KRT31	3881	broad.mit.edu	37	17	39552765	39552765	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39552765G>A	ENST00000251645.2	-	3	547	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	165	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTCATCCAGGATCCTGCGCA	0.607000													23	26					0	0	0.00047179	0	0
CSMD1	64478	broad.mit.edu	37	8	3165304	3165304	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:3165304C>T	ENST00000520002.1	-	26	4421	c.3866G>A	c.(3865-3867)cGa>cAa	p.R1289Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1289Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1289Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1289Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1289	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACAATATTCGTCCTGATGT	0.478000													30	45					0	0	0.00127121	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:11461597C>T	ENST00000279575.1	-	3	353	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_ENST00000445719.2_Missense_Mutation_p.G107E|PRB4_ENST00000535904.1_Missense_Mutation_p.G107E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)			97	65					0	0	0.000781405	0	0
POLD1	5424	broad.mit.edu	37	19	50909675	50909675	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:50909675G>A	ENST00000440232.2	+	12	1448	c.1395G>A	c.(1393-1395)cgG>cgA	p.R465R	POLD1_ENST00000595904.1_Silent_p.R465R|POLD1_ENST00000599857.1_Silent_p.R465R	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	465					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTGCTGCGGGAGTACAAGC	0.652000								DNA polymerases (catalytic subunits)					6	5					0	0	0.00116845	0	0
GPR98	84059	broad.mit.edu	37	5	89943320	89943320	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:89943320C>T	ENST00000405460.2	+	17	3124	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1010					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGAACCTCGTGTAGTGAG	0.438000													14	23					0	0	0.000308642	0	0
LIPG	9388	broad.mit.edu	37	18	47107876	47107876	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:47107876C>T	ENST00000261292.4	+	6	1163	c.885C>T	c.(883-885)ttC>ttT	p.F295F	LIPG_ENST00000577628.1_Silent_p.F331F|LIPG_ENST00000580036.1_Silent_p.F295F|LIPG_ENST00000427224.2_Silent_p.F221F	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	295					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GTTTTGCCTTCCAGTGCACTG	0.498000													55	77					0	0	0.000781405	0	0
UBXN8	7993	broad.mit.edu	37	8	30623851	30623851	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:30623851G>A	ENST00000519246.1	+	0	952							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GTCGCTGGAGGACATAGGAAT	0.507000													13	17					0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	9088960	9088960	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9088960T>C	ENST00000397910.4	-	1	3058	c.2855A>G	c.(2854-2856)aAt>aGt	p.N952S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	952	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGTCTCTATTGGTCTGTGA	0.478000													35	57					0	0	0.000953801	0	0
GPM6A	2823	broad.mit.edu	37	4	176572994	176572994	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:176572994G>A	ENST00000280187.7	-	5	577	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	GPM6A_ENST00000506894.1_Missense_Mutation_p.R167C|GPM6A_ENST00000393658.2_Missense_Mutation_p.R178C|GPM6A_ENST00000515090.1_Missense_Mutation_p.R171C	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	178						cell surface|integral to membrane		p.R178C(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCAAACTGACGAAGGTCCAAG	0.433000													25	30					0	0	0.00178596	0	0
MECOM	2122	broad.mit.edu	37	3	168833494	168833494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:168833494C>T	ENST00000464456.1	-	7	2802	c.1602G>A	c.(1600-1602)atG>atA	p.M534I	MECOM_ENST00000472280.1_Missense_Mutation_p.M535I|MECOM_ENST00000460814.1_Missense_Mutation_p.M534I|MECOM_ENST00000494292.1_Missense_Mutation_p.M722I|MECOM_ENST00000392736.3_Missense_Mutation_p.M534I|MECOM_ENST00000264674.3_Missense_Mutation_p.M599I|MECOM_ENST00000468789.1_Missense_Mutation_p.M534I|MECOM_ENST00000433243.2_Missense_Mutation_p.M535I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTGGGGTTCCATTTTCAAAG	0.458000													8	18					0	0	0.000157383	0	0
WDR17	116966	broad.mit.edu	37	4	177041242	177041242	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:177041242C>T	ENST00000393643.2	+	4	784	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	WDR17_ENST00000280190.4_Missense_Mutation_p.H202Y|WDR17_ENST00000507824.2_Missense_Mutation_p.H202Y|WDR17_ENST00000508596.1_Missense_Mutation_p.H178Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	202										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATCAATTTTTCATCCAGGTAA	0.338000													32	67					0	0	0.000409698	0	0
ALPL	249	broad.mit.edu	37	1	21889735	21889735	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:21889735G>A	ENST00000374840.3	+	5	680	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	ALPL_ENST00000374832.1_Missense_Mutation_p.G144R|ALPL_ENST00000540617.1_Missense_Mutation_p.G89R|ALPL_ENST00000539907.1_Missense_Mutation_p.G67R|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.G144R	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	144					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CACCACCCAGGGGAACGAGGT	0.682000													14	19					0	0	0.000308642	0	0
LRRC49	54839	broad.mit.edu	37	15	71211510	71211510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:71211510G>A	ENST00000260382.5	+	7	949	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R220Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.R186Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.R235Q|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	230						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTAACTTGCGACACAATCAA	0.333000													37	59					0	0	0.000509022	0	0
PCNT	5116	broad.mit.edu	37	21	47783490	47783490	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:47783490G>A	ENST00000359568.5	+	14	2357	c.2250G>A	c.(2248-2250)acG>acA	p.T750T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	750	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAAAGAAACGGACTGGAAAG	0.403000													52	75					0	0	0.000781405	0	0
ATP1A3	478	broad.mit.edu	37	19	42474413	42474413	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:42474413C>T	ENST00000545399.1	-	18	2658	c.2505G>A	c.(2503-2505)atG>atA	p.M835I	ATP1A3_ENST00000302102.5_Missense_Mutation_p.M822I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.M792I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.M833I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	822					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCTGTCTCTTCATGATGTCGC	0.627000													20	18					0	0	0.00188189	0	0
LTBP3	4054	broad.mit.edu	37	11	65320351	65320351	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:65320351G>A	ENST00000301873.5	-	6	1434	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P389L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	389	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTACGGGAGGGGCCTAAACT	0.587000													10	16					0	0	0.00136819	0	0
CEP128	145508	broad.mit.edu	37	14	81251542	81251542	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:81251542G>A	ENST00000555265.1	-	15	2283	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	CEP128_ENST00000281129.3_Silent_p.S636S			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	636						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GGTCCTTGATGGACTCTTGCA	0.478000													31	48					0	0	0.00178596	0	0
HSPG2	3339	broad.mit.edu	37	1	22169905	22169905	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22169905G>A	ENST00000374695.3	-	66	8722	c.8643C>T	c.(8641-8643)aaC>aaT	p.N2881N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2881	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGACACCTGGTTCAGCCTCA	0.652000													11	12					0	0	0.00136819	0	0
HELZ2	85441	broad.mit.edu	37	20	62200605	62200605	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:62200605G>A	ENST00000467148.1	-	4	1053	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGCTGCTGCGGTTGAACTCCA	0.657000													4	11					0	0	0.00116845	0	0
TENM3	55714	broad.mit.edu	37	4	183600989	183600989	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:183600989G>A	ENST00000511685.1	+	8	1620	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	TENM3_ENST00000406950.2_Silent_p.G499G					teneurin transmembrane protein 3																		ATAATGATGGGAAAAATGCAG	0.448000													9	16					0	0	0.000274275	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263104	55263104	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55263104A>G	ENST00000342376.3	+	6	750	c.719A>G	c.(718-720)aAc>aGc	p.N240S	KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron	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)		CTTCCAGGTAACCCCAGACAC	0.438000													30	81					0	0	0.000814825	0	0
ZFHX3	463	broad.mit.edu	37	16	72829797	72829797	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:72829797C>T	ENST00000268489.5	-	9	7456	c.6784G>A	c.(6784-6786)Gat>Aat	p.D2262N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1348N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2262					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCATTGGCATCGAAGAAGTCC	0.488000													66	91					0	0	0.000781405	0	0
CYP3A43	64816	broad.mit.edu	37	7	99457461	99457461	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:99457461G>A	ENST00000354829.2	+	10	977	c.874G>A	c.(874-876)Gat>Aat	p.D292N	CYP3A43_ENST00000444905.1_Missense_Mutation_p.D39N|CYP3A43_ENST00000312017.5_Missense_Mutation_p.D292N|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.D152N|CYP3A43_ENST00000415413.1_Missense_Mutation_p.D81N|CYP3A43_ENST00000222382.5_Missense_Mutation_p.D292N|CYP3A43_ENST00000417625.1_Missense_Mutation_p.D182N	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	292			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGCTCTGTCTGATCTGGAGCT	0.433000													62	69					0	0	0.000781405	0	0
GPR111	222611	broad.mit.edu	37	6	47649087	47649087	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47649087C>T	ENST00000398742.2	+	5	637	c.588C>T	c.(586-588)atC>atT	p.I196I	GPR111_ENST00000296862.1_Silent_p.I264I|GPR111_ENST00000507065.1_Silent_p.I196I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGCTATATCCTGCTACATT	0.408000													50	38					0	0	0.000781405	0	0
TBX20	57057	broad.mit.edu	37	7	35242073	35242073	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:35242073T>C	ENST00000408931.3	-	8	1839	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	438						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGCAGAGGAATGGCGTAGTCC	0.498000													5	2					0	0	0.000157383	0	0
MROH2B	133558	broad.mit.edu	37	5	41000823	41000823	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:41000823G>A	ENST00000399564.4	-	38	4757	c.4307C>T	c.(4306-4308)tCa>tTa	p.S1436L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S991L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGAAGGAATGAAATCAGGCT	0.473000													5	9					0	0	0.00116845	0	0
PLD5	200150	broad.mit.edu	37	1	242287898	242287898	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:242287898G>A	ENST00000442594.2	-	7	1038	c.529C>T	c.(529-531)Cta>Tta	p.L177L	PLD5_ENST00000427495.1_Silent_p.L207L|PLD5_ENST00000536534.1_Silent_p.L269L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	269						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAACTATATAGAGCAAATATC	0.368000													18	49					0	0	0.00121646	0	0
UBL7	84993	broad.mit.edu	37	15	74743820	74743820	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:74743820G>A	ENST00000567435.1	-	5	892	c.429C>T	c.(427-429)atC>atT	p.I143I	UBL7_ENST00000565335.1_Silent_p.I143I|UBL7_ENST00000395081.2_Silent_p.I143I|UBL7_ENST00000564488.1_Silent_p.I143I|UBL7_ENST00000361351.4_Silent_p.I143I			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	143							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TGGCCACAATGATCTGATCCA	0.493000													35	60					0	0	0.00111076	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661407	176661407	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:176661407C>T	ENST00000367662.3	+	6	3741	c.2577C>T	c.(2575-2577)tcC>tcT	p.S859S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	859					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAACAAGTCCCTCACTATCC	0.507000													21	86					0	0	0.000720815	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906436	164906436	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:164906436G>A	ENST00000475390.1	-	2	2626	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S728F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	728						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTGGAGAGGAAAGAGTTGG	0.572000										HNSCC(40;0.11)			13	25					0	0	0.000308642	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493114	173493114	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:173493114G>A	ENST00000367714.3	-	21	3056	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	878					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTACCTTGAAGAAGTCAATGA	0.378000													60	55					0	0	0.000781405	0	0
LY75	4065	broad.mit.edu	37	2	160732021	160732021	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:160732021G>A	ENST00000263636.4	-	12	1935	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	LY75-CD302_ENST00000505052.1_Silent_p.S636S|LY75-CD302_ENST00000504764.1_Silent_p.S636S|LY75_ENST00000554112.1_Silent_p.S636S|LY75_ENST00000553424.1_Silent_p.S636S	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAGGCTTAGGGGATGCTTCTT	0.463000													20	37					0	0	0.000375601	0	0
CYP39A1	51302	broad.mit.edu	37	6	46593237	46593237	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:46593237A>G	ENST00000275016.2	-	7	1052	c.849T>C	c.(847-849)ttT>ttC	p.F283F		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	283					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAAGTGTCCAAAATGCAACCT	0.313000													28	87					0	0	0.00127121	0	0
TBX4	9496	broad.mit.edu	37	17	59557462	59557462	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:59557462C>T	ENST00000393853.4	+	8	966	c.803C>T	c.(802-804)cCc>cTc	p.P268L	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.P268L			P57082	TBX4_HUMAN	T-box 4	268					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAAGAATACCCCGTGATTTCC	0.597000													68	47					0	0	0.000781405	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677733	37677733	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:37677733G>A	ENST00000532828.2	-	5	957	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H181Y|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTATGAATTTTCTCA	0.408000													37	51					0	0	0.000953801	0	0
ZNF135	7694	broad.mit.edu	37	19	58574891	58574891	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58574891C>T	ENST00000506786.1	+	4	666	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	ZNF135_ENST00000511556.1_Missense_Mutation_p.P80S|ZNF135_ENST00000313434.5_Missense_Mutation_p.P80S|ZNF135_ENST00000439855.2_Missense_Mutation_p.P80S|ZNF135_ENST00000359978.6_Missense_Mutation_p.P92S|ZNF135_ENST00000401053.4_Missense_Mutation_p.P92S			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTCTAGACTTCCCCAAGGCGT	0.567000													19	25					0	0	0.000958276	0	0
ITIH1	3697	broad.mit.edu	37	3	52825621	52825621	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52825621G>A	ENST00000273283.2	+	21	2607	c.2583G>A	c.(2581-2583)agG>agA	p.R861R	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Silent_p.R227R|ITIH1_ENST00000537050.1_Silent_p.R573R|ITIH1_ENST00000540715.1_Silent_p.R719R	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	861	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGGTGGTGAGGAACCGCCGGC	0.582000													7	19					0	0	0.000157383	0	0
FAM179A	165186	broad.mit.edu	37	2	29240726	29240726	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:29240726G>A	ENST00000379558.4	+	10	1615	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	422							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGCAGAAACGACGTCAGCAT	0.667000													9	17					0	0	0.000442599	0	0
F2RL2	2151	broad.mit.edu	37	5	75913832	75913832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:75913832C>T	ENST00000296641.4	-	2	903	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E212K|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	234					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AGATAATATTCCTGCTTCAGT	0.473000													11	8					0	0	0.000978159	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058080	46058080	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:46058080C>T	ENST00000380095.1	+	1	808	c.746C>T	c.(745-747)tCc>tTc	p.S249F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	249						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCCAGAAGTCCAGCTGCTGA	0.672000													14	17					0	0	0.00074312	0	0
ADCY10	55811	broad.mit.edu	37	1	167829070	167829070	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:167829070A>G	ENST00000367848.1	-	16	2092	c.1595T>C	c.(1594-1596)aTa>aCa	p.I532T	ADCY10_ENST00000545172.1_Missense_Mutation_p.I471T|ADCY10_ENST00000367851.4_Missense_Mutation_p.I624T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	624					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATAAACAATATTTCCAATTG	0.398000													208	121					0	0	0.000781405	0	0
PRMT8	56341	broad.mit.edu	37	12	3702313	3702313	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:3702313G>A	ENST00000382622.3	+	10	1540	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	PRMT8_ENST00000452611.2_Missense_Mutation_p.E375K|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	384					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACAGCTGTGTGAAACATCTGT	0.522000													21	4					0	0	0.000720815	0	0
C16orf91	283951	broad.mit.edu	37	16	1476323	1476323	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:1476323G>A	ENST00000310355.1	-	3	299	c.300C>T	c.(298-300)aaC>aaT	p.N100N				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CACCTTCCTGGTTGTTGTGGT	0.622000													26	33					0	0	0.000878237	0	0
SEZ6	124925	broad.mit.edu	37	17	27308885	27308885	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:27308885G>A	ENST00000317338.12	-	2	656	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SEZ6_ENST00000442608.3_Silent_p.F76F|SEZ6_ENST00000360295.9_Silent_p.F76F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.F76F			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	76						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCTCTTGTAGGAATTCCTCAA	0.622000													23	28					0	0	0.000295444	0	0
DYSF	8291	broad.mit.edu	37	2	71892337	71892337	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:71892337C>T	ENST00000258104.3	+	46	5380	c.5103C>T	c.(5101-5103)ctC>ctT	p.L1701L	DYSF_ENST00000409762.1_Silent_p.L1718L|DYSF_ENST00000409366.1_Silent_p.L1723L|DYSF_ENST00000410020.3_Silent_p.L1740L|DYSF_ENST00000429174.2_Silent_p.L1722L|DYSF_ENST00000413539.2_Silent_p.L1732L|DYSF_ENST00000409582.3_Silent_p.L1739L|DYSF_ENST00000409744.1_Silent_p.L1709L|DYSF_ENST00000409651.1_Silent_p.L1733L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.L1702L|DYSF_ENST00000410041.1_Silent_p.L1719L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1701						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCCAGCTCCTCCACCTCT	0.527000													30	50					0	0	0.000339439	0	0
NOL6	65083	broad.mit.edu	37	9	33468751	33468751	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:33468751C>T	ENST00000379471.2	-	8	1233	c.1147_splice	c.e8+1	p.L382_splice	NOL6_ENST00000455041.2_Splice_Site_p.L322_splice|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	382					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGCCTCACCCAGAAACTGCA	0.527000													77	15					0	0	0.000781405	0	0
CCDC73	493860	broad.mit.edu	37	11	32663547	32663547	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:32663547C>T	ENST00000335185.5	-	13	1064	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	341										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTGCTTTTTCATGCTCATTT	0.249000													14	35					0	0	0.000308642	0	0
CHGB	1114	broad.mit.edu	37	20	5897513	5897513	+	Silent	SNP	G	G	A	rs141825852		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:5897513G>A	ENST00000378961.4	+	3	342	c.138G>A	c.(136-138)tcG>tcA	p.S46S	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	46						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATGCCTTGTCGAAGTCCAGCG	0.557000													24	36					0	0	0.000720815	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072936	15072936	+	Silent	SNP	G	G	A	rs2301853	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15072936G>A	ENST00000598504.1	-	8	2172	c.813C>T	c.(811-813)ctC>ctT	p.L271L	SLC1A6_ENST00000430939.2_Silent_p.L207L|SLC1A6_ENST00000544886.2_Silent_p.L271L|SLC1A6_ENST00000221742.3_Silent_p.L271L|SLC1A6_ENST00000600144.1_Silent_p.L271L	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	271					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGAAGACCACGAGGCCCAGGG	0.562000													30	46					0	0	0.000491102	0	0
SPAG1	6674	broad.mit.edu	37	8	101178046	101178046	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:101178046G>T	ENST00000388798.2	+	3	336	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	SPAG1_ENST00000520508.1_Missense_Mutation_p.G49C|SPAG1_ENST00000251809.3_Missense_Mutation_p.G49C|SPAG1_ENST00000520643.1_Missense_Mutation_p.G49C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	49					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTTAAGATCTGGTGAGGAAGG	0.418000													13	29					6.31663e-08	4.0116e-07	0.000308642	1	0
PTAFR	5724	broad.mit.edu	37	1	28476903	28476903	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:28476903G>A	ENST00000373857.3	-	2	1264	c.630C>T	c.(628-630)atC>atT	p.I210I	PTAFR_ENST00000539896.1_Silent_p.I210I|PTAFR_ENST00000305392.3_Silent_p.I210I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	210					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAGGTACGGATGATGACCA	0.567000													11	10					0	0	0.000978159	0	0
AOC3	8639	broad.mit.edu	37	17	41003628	41003628	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:41003628C>T	ENST00000308423.2	+	1	428	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	90					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGCCCAGGCCCGGCCCTCGGA	0.672000													47	70					0	0	0.000781405	0	0
FBN3	84467	broad.mit.edu	37	19	8175829	8175829	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:8175829C>T	ENST00000600128.1	-	34	4647	c.4233G>A	c.(4231-4233)ggG>ggA	p.G1411G	FBN3_ENST00000601739.1_Silent_p.G1411G|FBN3_ENST00000270509.2_Silent_p.G1411G			Q75N90	FBN3_HUMAN	fibrillin 3	1411	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGAGGTTCCCTTGCGCAC	0.632000													30	26					0	0	0.001512	0	0
SERPINC1	462	broad.mit.edu	37	1	173883882	173883882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:173883882G>A	ENST00000367698.3	-	2	335	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	73			P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTGGCCTCCGGGATCTTCTGT	0.552000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	115					0	0	0.000781405	0	0
FMO3	2328	broad.mit.edu	37	1	171086447	171086447	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:171086447C>T	ENST00000367755.4	+	9	1575	c.1464C>T	c.(1462-1464)acC>acT	p.T488T	FMO3_ENST00000542847.1_Silent_p.T468T|FMO3_ENST00000392085.2_Silent_p.T488T|FMO3_ENST00000538429.1_Silent_p.T425T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	488					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATACTGACCCAGTGGGACC	0.527000													4	24					0	0	0.000602214	0	0
RNF213	57674	broad.mit.edu	37	17	78272221	78272221	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:78272221G>T	ENST00000582970.1	+	11	2256	c.2113G>T	c.(2113-2115)Gcc>Tcc	p.A705S	RNF213_ENST00000508628.2_Missense_Mutation_p.A754S|RNF213_ENST00000456466.1_Missense_Mutation_p.A705S|RNF213_ENST00000319921.4_Missense_Mutation_p.A705S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	705										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TATGGAGCTGGCCCCGCGGCA	0.612000													25	28					4.26978e-12	2.73533e-11	0.00047179	1	0
COL13A1	1305	broad.mit.edu	37	10	71705454	71705454	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:71705454G>A	ENST00000356340.3	+	35	2499	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	COL13A1_ENST00000354547.3_Missense_Mutation_p.G633R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G606R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G643R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G621R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G626R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G641R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G577R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G629R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G624R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G640R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G633R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G583R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G636R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G583R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G655R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	655	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TGGGATGACAGGACCAACGGG	0.557000													8	9					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9084604	9084604	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9084604G>T	ENST00000397910.4	-	1	7414	c.7211C>A	c.(7210-7212)tCc>tAc	p.S2404Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2404	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGATGGGGAGGAACTTGC	0.458000													13	13					1.61879e-10	1.03478e-09	0.00136819	1	0
DEGS2	123099	broad.mit.edu	37	14	100613156	100613156	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:100613156G>A	ENST00000305631.5	-	3	1489	c.914C>T	c.(913-915)tCc>tTc	p.S305F	DEGS2_ENST00000553834.1_3'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	305					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGGCCCCAGGGAGTCCTCAAA	0.622000													28	38					0	0	0.001512	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478363	14478363	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:14478363G>A	ENST00000581457.1	-	0	1545					NR_024076.1																						GGATTCCAGGGATGAATGATT	0.468000													6	21					0	0	8.12818e-05	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314443	25314443	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:25314443C>T	ENST00000302874.4	+	1	36	c.12C>T	c.(10-12)tcC>tcT	p.S4S	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	4							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TGGCGGCCTCCAGGAATGGGT	0.662000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	106					0	0	0.000781405	0	0
NLRC5	84166	broad.mit.edu	37	16	57062269	57062269	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57062269C>T	ENST00000436936.1	+	8	2440	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	NLRC5_ENST00000308149.7_Missense_Mutation_p.P739S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P739S|NLRC5_ENST00000262510.6_Missense_Mutation_p.P739S			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	739					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAAGCTTTGCCTCTCTGTCC	0.562000													24	36					0	0	0.000720815	0	0
OR4A5	81318	broad.mit.edu	37	11	51411699	51411699	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:51411699C>T	ENST00000319760.6	-	1	749	c.697G>A	c.(697-699)Gcc>Acc	p.A233T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTAGACAAGGCTTTACCCCTC	0.408000													5	9					0	0	8.12818e-05	0	0
ABRA	137735	broad.mit.edu	37	8	107773302	107773302	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:107773302C>T	ENST00000311955.3	-	2	1163	c.1109G>A	c.(1108-1110)gGc>gAc	p.G370D		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	370	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTCATCTCGGCCTTGCCATAG	0.428000													65	99					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41719737	41719737	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41719737C>T	ENST00000400454.1	-	6	1547	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	357	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATTTTTTCCAGGGTTGAG	0.507000													64	68					0	0	0.000781405	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674195	48674195	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:48674195G>A	ENST00000352832.5	+	15	3472	c.3100G>A	c.(3100-3102)Ggc>Agc	p.G1034S	CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1034S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1057S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1034S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1057S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1057S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1034S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1057S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1034S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1034S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1034S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1057S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1034S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1057					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACCAGCACGGGCCTGGGCGA	0.721000													11	5					0	0	0.00185496	0	0
NSUN4	387338	broad.mit.edu	37	1	46827414	46827414	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:46827414A>T	ENST00000474844.1	+	6	1701	c.1051A>T	c.(1051-1053)Aca>Tca	p.T351S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.T302S|NSUN4_ENST00000537428.1_Missense_Mutation_p.T302S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	351							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTTCATGGACACATTTTGTTT	0.488000													40	72					0	0	0.00128727	0	0
ADAM32	203102	broad.mit.edu	37	8	39091502	39091502	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:39091502C>T	ENST00000379907.4	+	16	1846	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	ADAM32_ENST00000519315.1_Silent_p.F467F|ADAM32_ENST00000437682.2_Silent_p.F474F	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	573					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTATGCTTTCGTACGAGATT	0.393000													5	8					0	0	0.000602214	0	0
OR8I2	120586	broad.mit.edu	37	11	55861530	55861530	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55861530C>T	ENST00000302124.2	+	1	778	c.747C>T	c.(745-747)atC>atT	p.I249I	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGTAACTATCTTTTATGGGT	0.488000													5	17					0	0	0.00116845	0	0
OR4B1	119765	broad.mit.edu	37	11	48239049	48239049	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:48239049G>A	ENST00000309562.2	+	1	706	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTGCAGAGGGGAGGCACAA	0.468000													6	10					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179542873	179542873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179542873C>T	ENST00000589042.1	-	145	34197	c.33973G>A	c.(33973-33975)Gtg>Atg	p.V11325M	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11008M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10081M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11008	Glu-rich.|Pro-rich.						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)			GGTGCTTCCACTTTTTTCGGA	0.363000													25	39					0	0	0.00106085	0	0
ZNF234	10780	broad.mit.edu	37	19	44661600	44661600	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:44661600C>T	ENST00000426739.2	+	6	1689	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	ZNF234_ENST00000592437.1_Silent_p.I477I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ACCAGCTGATCCATACCGGTG	0.438000													32	39					0	0	0.00178596	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884103	19884103	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:19884103A>T	ENST00000300571.2	-	2	256	c.65T>A	c.(64-66)gTg>gAg	p.V22E	GPRC5B_ENST00000537135.1_Missense_Mutation_p.V48E|GPRC5B_ENST00000535671.1_Missense_Mutation_p.V22E|GPRC5B_ENST00000569847.1_Missense_Mutation_p.V22E|GPRC5B_ENST00000569479.1_Missense_Mutation_p.V22E	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	22										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGAGGTGATCACGAAGAGCAG	0.582000													20	29					0	0	0.00121646	0	0
DDX27	55661	broad.mit.edu	37	20	47858689	47858689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:47858689C>T	ENST00000371764.4	+	18	2164	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	719						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGAGGAATCGCAGAGCCAA	0.572000													20	34					0	0	0.00121646	0	0
TRNT1	51095	broad.mit.edu	37	3	3170788	3170788	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:3170788C>T	ENST00000251607.6	+	2	166	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	TRNT1_ENST00000402675.1_Missense_Mutation_p.L22F|TRNT1_ENST00000339437.6_Missense_Mutation_p.L22F|TRNT1_ENST00000420393.1_Missense_Mutation_p.L22F|TRNT1_ENST00000280591.6_Missense_Mutation_p.L22F|TRNT1_ENST00000469632.1_3'UTR	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	22					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TAGGCTGTGCCTTCCGAAGCA	0.493000													33	47					0	0	0.000409698	0	0
ROR2	4920	broad.mit.edu	37	9	94488955	94488955	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:94488955G>A	ENST00000375708.3	-	8	1452	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.I278I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	418					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						AAAGGCAAGCGATGACCAGTG	0.537000													26	9					0	0	0.00106085	0	0
NEU1	4758	broad.mit.edu	37	6	31827680	31827680	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31827680G>A	ENST00000375631.4	-	6	1193	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	355						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TTTCCGCCATGAGGTACCATT	0.612000													143	347					0	0	0.000781405	0	0
FAIM	55179	broad.mit.edu	37	3	138351881	138351881	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:138351881T>C	ENST00000338446.4	+	6	1285	c.602T>C	c.(601-603)cTc>cCc	p.L201P	FAIM_ENST00000360570.3_Missense_Mutation_p.L189P|FAIM_ENST00000393035.2_Missense_Mutation_p.L167P|FAIM_ENST00000464668.1_Missense_Mutation_p.L167P|FAIM_ENST00000393034.2_Missense_Mutation_p.L167P	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	167					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ATTCATACTCTCATTGTGGAT	0.363000													157	47					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179588002	179588002	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179588002C>T	ENST00000589042.1	-	75	21956	c.21732G>A	c.(21730-21732)ggG>ggA	p.G7244G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.G6927G|TTN_ENST00000342992.6_Silent_p.G6000G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6927	Ig-like 54.						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)			TTATGGACTTCCCTGGTTCTA	0.378000													6	9					0	0	0.00116845	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717065	39717065	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:39717065G>A	ENST00000553728.1	+	4	1500	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	MIA2_ENST00000280082.3_Silent_p.T429T|MIA2_ENST00000556784.1_Silent_p.T428T																							AAATAGAAACGATAAAAATTA	0.323000													33	48					0	0	0.00058488	0	0
IL4	3565	broad.mit.edu	37	5	132010149	132010149	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:132010149A>G	ENST00000231449.2	+	2	200		c.e2-1		IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Intron	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4						B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		GCCTGGACCAAGACTCTGTGC	0.517000													30	59					0	0	0.000692331	0	0
RAB19	401409	broad.mit.edu	37	7	140125836	140125836	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:140125836C>T	ENST00000275874.5	+	5	879	c.681C>T	c.(679-681)atC>atT	p.I227I	RAB19_ENST00000537763.1_Silent_p.I180I|RAB19_ENST00000356407.3_Silent_p.I180I			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	180					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AGGAGCTGATCGCGCGCAACA	0.577000													36	44					0	0	0.000692331	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507259	44507259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:44507259C>T	ENST00000255152.2	+	2	2271	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P682S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	688							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGAGGGATTCCCTCCTGCTAC	0.527000													34	46					0	0	0.000692331	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813034	31813034	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:31813034G>A	ENST00000334067.3	+	1	438	c.389G>A	c.(388-390)aGg>aAg	p.R130K		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	130						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTTCATCCAGGAATTTCCAG	0.453000													40	89					0	0	0.000781405	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806869	97806869	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:97806869C>T	ENST00000358642.2	+	1	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GATTATAATTCCCCTGCTAAA	0.373000													12	15					0	0	0.000978159	0	0
OTOP1	133060	broad.mit.edu	37	4	4190621	4190621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:4190621C>T	ENST00000296358.4	-	6	1772	c.1748G>A	c.(1747-1749)tGg>tAg	p.W583*		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	583					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACAATTATCCAGGGTTCAAA	0.468000													11	114					0	0	0.00152264	0	0
ACAN	176	broad.mit.edu	37	15	89401287	89401287	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:89401287G>A	ENST00000439576.2	+	12	5845	c.5471G>A	c.(5470-5472)gGt>gAt	p.G1824D	ACAN_ENST00000561243.1_Missense_Mutation_p.G1824D|ACAN_ENST00000559004.1_Missense_Mutation_p.G1824D|ACAN_ENST00000352105.7_Missense_Mutation_p.G1824D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1824					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGCAGCGGTGAATCTTCT	0.532000													16	18					0	0	0.000566183	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322957	61322957	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:61322957G>A	ENST00000283752.5	-	8	1250	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	SERPINB3_ENST00000332821.8_Silent_p.F317F|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	369					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						TGAAGAATAGGAAAGGGTGAT	0.438000													5	8					0	0	0.00116845	0	0
MKX	283078	broad.mit.edu	37	10	28023534	28023534	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:28023534G>A	ENST00000375790.5	-	5	1121	c.689C>T	c.(688-690)tCt>tTt	p.S230F	MKX_ENST00000419761.1_Missense_Mutation_p.S230F			Q8IYA7	MKX_HUMAN	mohawk homeobox	230					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATGTCTCAAAGAGTCATTAAG	0.478000													22	31					0	0	0.00188189	0	0
ZNF81	347344	broad.mit.edu	37	X	47776023	47776023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:47776023C>T	ENST00000376954.1	+	6	2346	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H660Y			P51508	ZNF81_HUMAN	zinc finger protein 81	660						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCGCAATATTCATACATGAAA	0.363000													5	1					0	0	0.00116845	0	0
DQX1	165545	broad.mit.edu	37	2	74746699	74746699	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:74746699G>A	ENST00000404568.3	-	10	2009	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	DQX1_ENST00000393951.2_Missense_Mutation_p.S597L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	597						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						AAAGTATCCTGACACCAGTGC	0.473000													49	72					0	0	0.000781405	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755684	140755684	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140755684C>T	ENST00000517434.1	+	1	2034	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGCCTCGAGCCCTCCG	0.687000													28	34					0	0	0.000814825	0	0
RGPD3	653489	broad.mit.edu	37	2	107040789	107040789	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:107040789C>T	ENST00000409886.3	-	20	3721	c.3634G>A	c.(3634-3636)Gat>Aat	p.D1212N	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1212N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1212					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTGTTTGATCATTTGTCAAA	0.428000													84	105					0	0	0.000781405	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493514	65493514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:65493514C>T	ENST00000321870.1	+	1	701	c.167C>T	c.(166-168)tCc>tTc	p.S56F	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	56	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGCCCGGCGTCCTCCTCCTCG	0.761000													6	13					0	0	0.000157383	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590623	125590623	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:125590623C>T	ENST00000504087.1	-	4	4846	c.3809G>A	c.(3808-3810)gGg>gAg	p.G1270E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G1091E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1270	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGATTTCCCCCCTTTACTTGC	0.398000													16	26					0	0	0.000422831	0	0
FBF1	85302	broad.mit.edu	37	17	73906868	73906868	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73906868T>C	ENST00000586717.1	-	29	3611	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S	FBF1_ENST00000319129.5_Missense_Mutation_p.N1113S|RP11-552F3.12_ENST00000587556.1_Intron|FBF1_ENST00000389570.4_Missense_Mutation_p.N1114S			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1113										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GAACTGTTCATTCTCCAAGAA	0.572000													13	8					0	0	0.000219431	0	0
RYR1	6261	broad.mit.edu	37	19	39075687	39075687	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:39075687C>T	ENST00000355481.4	+	101	14867	c.14736C>T	c.(14734-14736)ttC>ttT	p.F4912F	RYR1_ENST00000360985.3_Silent_p.F4912F|RYR1_ENST00000359596.3_Silent_p.F4917F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4917					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)	GGGTGGTCTTCGACATCACCT	0.607000													13	15					0	0	0.00185496	0	0
ESRP2	80004	broad.mit.edu	37	16	68267909	68267909	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:68267909C>T	ENST00000473183.2	-	3	967	c.429G>A	c.(427-429)gaG>gaA	p.E143E	ESRP2_ENST00000565858.1_Silent_p.E143E			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	143					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCCTGGAGGCCTCGGGGTGCA	0.627000													8	10					0	0	0.000274275	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130396	71130396	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:71130396G>A	ENST00000333538.5	+	7	1715	c.1080_splice	c.e7-1	p.V361_splice	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	361	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V361L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACCCCTAGGTATGGCTCTG	0.502000													47	52					0	0	0.000781405	0	0
GPR111	222611	broad.mit.edu	37	6	47649422	47649422	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47649422G>A	ENST00000398742.2	+	5	972	c.923G>A	c.(922-924)aGa>aAa	p.R308K	GPR111_ENST00000296862.1_Missense_Mutation_p.R376K|GPR111_ENST00000507065.1_Missense_Mutation_p.R308K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	376					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAACTTAAAAGAATCTCACTG	0.463000													36	107					0	0	0.000692331	0	0
DSCAM	1826	broad.mit.edu	37	21	41414514	41414514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41414514C>T	ENST00000400454.1	-	32	5947	c.5470G>A	c.(5470-5472)Gaa>Aaa	p.E1824K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1824					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTTGCTCTTCCATCTTGGCG	0.537000													38	42					0	0	0.00170553	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56757303G>A	ENST00000326855.2	+	1	957	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000													7	18					0	0	8.12818e-05	0	0
AKR7A2	8574	broad.mit.edu	37	1	19632545	19632545	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:19632545G>A	ENST00000235835.3	-	6	906	c.885C>T	c.(883-885)gcC>gcT	p.A295A		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	295					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGGAGGGCAGCCGAGG	0.627000													33	40					0	0	0.00058488	0	0
TRPC5	7224	broad.mit.edu	37	X	111020231	111020231	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:111020231C>T	ENST00000262839.2	-	11	3151		c.e11-1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTTTAATTCCTGGGAAAAGA	0.408000													41	8					0	0	0.00148497	0	0
TDRD5	163589	broad.mit.edu	37	1	179603722	179603722	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:179603722G>T	ENST00000444136.1	+	8	1507	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	TDRD5_ENST00000294848.8_Missense_Mutation_p.K419N|TDRD5_ENST00000367614.1_Missense_Mutation_p.K419N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	419					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CACAACAGAAGATTTGCAAGA	0.408000													25	69					1.42536e-11	9.12456e-11	0.000720815	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91413858	91413858	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:91413858G>A	ENST00000261991.3	-	4	604	c.431C>T	c.(430-432)tCt>tTt	p.S144F	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S65F|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S144F	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	144	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTCTCTTTGAGAAAGATGAGT	0.348000													39	67					0	0	0.00128727	0	0
CAND2	23066	broad.mit.edu	37	3	12869058	12869058	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:12869058C>T	ENST00000456430.2	+	13	3371	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	CAND2_ENST00000295989.5_Silent_p.F993F	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1110					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGTGAGTTCCTGAACCATG	0.567000													30	45					0	0	0.000339439	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478362	14478362	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:14478362G>A	ENST00000581457.1	-	0	1546					NR_024076.1																						TGGATTCCAGGGATGAATGAT	0.473000													6	22					0	0	8.12818e-05	0	0
CAD	790	broad.mit.edu	37	2	27447350	27447350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27447350G>A	ENST00000264705.4	+	9	1408	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S	CAD_ENST00000403525.1_Missense_Mutation_p.G416S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	416	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGACTACTCGGGCTCTCAGGT	0.567000													25	42					0	0	0.000586117	0	0
C6orf165	154313	broad.mit.edu	37	6	88173907	88173907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:88173907G>A	ENST00000507897.1	+	13	1891	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.G603E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	603										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CTTCGTGGAGGAAAGAGCGAA	0.468000													13	2					0	0	0.000422831	0	0
KLHL13	90293	broad.mit.edu	37	X	117053571	117053571	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:117053571C>T	ENST00000371876.1	-	3	2751	c.330G>A	c.(328-330)atG>atA	p.M110I	KLHL13_ENST00000545703.1_Missense_Mutation_p.M119I|KLHL13_ENST00000541812.1_Missense_Mutation_p.M145I|KLHL13_ENST00000540167.1_Missense_Mutation_p.M145I|KLHL13_ENST00000262820.3_Missense_Mutation_p.M161I|KLHL13_ENST00000539496.1_Missense_Mutation_p.M164I|KLHL13_ENST00000371878.1_Missense_Mutation_p.M110I|KLHL13_ENST00000371882.1_Missense_Mutation_p.M110I|KLHL13_ENST00000469946.1_Missense_Mutation_p.M110I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	161	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAAGGTTGTCCATATTAAGAG	0.368000													51	6					0	0	0.000781405	0	0
PCSK6	5046	broad.mit.edu	37	15	101970250	101970250	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:101970250C>T	ENST00000348070.1	-	6	672	c.673G>A	c.(673-675)Gac>Aac	p.D225N	PCSK6_ENST00000344273.2_Missense_Mutation_p.D225N|PCSK6_ENST00000358417.3_Missense_Mutation_p.D225N|PCSK6_ENST00000331826.7_Missense_Mutation_p.D60N|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.D225N	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	226	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCGTTCACGTCGTAGCTGGCG	0.478000													12	24					0	0	0.00185496	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388872	39388872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39388872C>T	ENST00000411528.2	+	1	158	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	40	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGTGTTTCCAGCTGCTGC	0.622000													28	23					0	0	0.000491102	0	0
KRT37	8688	broad.mit.edu	37	17	39577646	39577646	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39577646C>G	ENST00000225550.3	-	6	1213	c.1214G>C	c.(1213-1215)cGg>cCg	p.R405P	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	405	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGAAGGTTCCGGTATGTGGC	0.562000													20	28					0	0	0.000295444	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119551	17119551	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:17119551C>T	ENST00000426585.1	+	0	363																											ACTTTATATTCCTTCGGAGTA	0.348000													12	33					0	0	0.000978159	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836030	14836030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:14836030G>A	ENST00000261170.3	-	4	693	c.557C>T	c.(556-558)tCc>tTc	p.S186F	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	186					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGTGCTCCAGGAATAAGTTTT	0.393000													12	3					0	0	0.000219431	0	0
CPLX2	10814	broad.mit.edu	37	5	175305757	175305757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:175305757G>A	ENST00000359546.4	+	3	658	c.15G>A	c.(13-15)atG>atA	p.M5I	CPLX2_ENST00000515094.1_Missense_Mutation_p.M5I|CPLX2_ENST00000393745.3_Missense_Mutation_p.M5I|CPLX2_ENST00000512824.1_Missense_Mutation_p.M5I	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	5					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTTCGTCATGAAGCAGGCCC	0.667000													12	32					0	0	0.000308642	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318274	30318274	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:30318274T>C	ENST00000375377.1	-	3	904	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	268	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGAGTCCAAATTTGGTGCGCA	0.527000													29	37					0	0	0.001512	0	0
SPDYC	387778	broad.mit.edu	37	11	64938874	64938874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64938874C>T	ENST00000377185.2	+	2	185	c.103C>T	c.(103-105)Cag>Tag	p.Q35*		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	35					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGTTACCACCCAGGTAGAGCT	0.607000													29	48					0	0	0.000339439	0	0
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	742	CUB 4.					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						TAAATTATTTCCATACCCTTC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	37					0	0	0.000375601	0	0
LILRP2	79166	broad.mit.edu	37	19	55221914	55221914	+	RNA	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55221914C>A	ENST00000413439.1	+	0	1441																											GACCCTCCCTCTCGGTGCAGC	0.642000													10	17					2.80697e-09	1.79041e-08	0.000978159	1	0
LCT	3938	broad.mit.edu	37	2	136566649	136566649	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:136566649G>A	ENST00000264162.2	-	8	3278	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1090	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCCTATATGGTGCCCAGCCT	0.532000													20	24					0	0	0.00152264	0	0
KALRN	8997	broad.mit.edu	37	3	124165124	124165124	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:124165124G>A	ENST00000360013.3	+	20	3550		c.e20+1		KALRN_ENST00000460856.1_Splice_Site|KALRN_ENST00000240874.3_Splice_Site	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGCTAAGCAGGTTGTCCAAAG	0.557000													15	18					0	0	0.000566183	0	0
RYR1	6261	broad.mit.edu	37	19	38948853	38948853	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38948853G>A	ENST00000355481.4	+	18	2219	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	RYR1_ENST00000360985.3_Silent_p.G696G|RYR1_ENST00000359596.3_Silent_p.G696G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	696	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)	CCTACCCTGGGGCCGGCGAGG	0.647000													15	30					0	0	0.000566183	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153402	133153402	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:133153402G>A	ENST00000388996.4	-	10	1859	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A360V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A480V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	480					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAAGCGTAGGCTTTCATGCG	0.483000													34	48					0	0	0.00111076	0	0
GPR98	84059	broad.mit.edu	37	5	90041002	90041002	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:90041002G>A	ENST00000405460.2	+	51	10785	c.10689G>A	c.(10687-10689)aaG>aaA	p.K3563K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3563					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTCAAGCAAGAATTTAATAG	0.388000													50	110					0	0	0.000781405	0	0
FAM175B	23172	broad.mit.edu	37	10	126523138	126523138	+	Silent	SNP	G	G	A	rs115537499	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:126523138G>A	ENST00000298492.5	+	9	891	c.846G>A	c.(844-846)cgG>cgA	p.R282R		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	282						BRISC complex	polyubiquitin binding			NS(1)	1						TCAGTCCTCGGATGCCGTCCT	0.502000													22	27					0	0	0.000586117	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838656	43838656	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:43838656G>A	ENST00000319294.6	+	7	1015	c.984G>A	c.(982-984)cgG>cgA	p.R328R	UBASH3A_ENST00000291535.6_Silent_p.R290R|UBASH3A_ENST00000398367.1_Silent_p.R290R	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	328	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CGGGCTGCCGGGGCTTCCTGC	0.612000													19	19					0	0	0.000958276	0	0
ADORA3	140	broad.mit.edu	37	1	112106514	112106514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:112106514C>T	ENST00000369717.4	-	1	70	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	RAP1A_ENST00000356415.1_Intron	NM_001081976.1	NP_001075445.1	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGCTGCTCTTCCCAGGAGCTT	0.557000													48	69					0	0	0.000781405	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197610	142197610	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142197610G>A	ENST00000471935.1	-	0	367																											GAGTCCTCAAGCTTTGCAGGC	0.502000													29	81					0	0	0.00178596	0	0
LGSN	51557	broad.mit.edu	37	6	63991056	63991056	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:63991056C>T	ENST00000370658.5	-	4	433	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	LGSN_ENST00000370657.4_Missense_Mutation_p.E134K	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	134					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTATTCATTTCATTGTCCTTT	0.393000													34	13					0	0	0.000491102	0	0
ABCC11	85320	broad.mit.edu	37	16	48204118	48204118	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:48204118G>A	ENST00000394747.1	-	27	4138	c.3789C>T	c.(3787-3789)ttC>ttT	p.F1263F	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.F1263F|ABCC11_ENST00000394748.1_Silent_p.F1263F|ABCC11_ENST00000353782.5_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1263	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCTTTTTGGGGAACTTTGAGA	0.522000													79	120					0	0	0.000781405	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014149	27014149	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:27014149C>T	ENST00000314616.6	+	22	3027	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S915F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	915					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGGCCGTCTCCCTGGCCCGG	0.542000													46	68					0	0	0.000781405	0	0
MST1L	11223	broad.mit.edu	37	1	17084074	17084074	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:17084074C>T	ENST00000455405.2	-	0	638																											CCGCACATGTCCTCGGTGCTT	0.597000													14	138					0	0	0.000422831	0	0
PHLPP1	23239	broad.mit.edu	37	18	60612419	60612419	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:60612419T>G	ENST00000400316.4	+	12	3484	c.1703T>G	c.(1702-1704)aTg>aGg	p.M568R	PHLPP1_ENST00000262719.5_Missense_Mutation_p.M1080R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1080	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ACAACGATCATGAATTGCAGG	0.433000													22	26					0	0	0.000295444	0	0
CCDC70	83446	broad.mit.edu	37	13	52440032	52440032	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:52440032G>A	ENST00000242819.4	+	2	814	c.518G>A	c.(517-519)gGg>gAg	p.G173E		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	173						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTCCTTGAGGGGGAGAAAGCC	0.547000													37	64					0	0	0.00148497	0	0
BARX2	8538	broad.mit.edu	37	11	129306867	129306867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:129306867C>T	ENST00000281437.4	+	2	505	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	137										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCGCCGGAGTCGCACCATCTT	0.632000													5	1					0	0	0.000602214	0	0
ACACA	31	broad.mit.edu	37	17	35603821	35603821	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:35603821G>A	ENST00000353139.5	-	19	2862	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	ACACA_ENST00000360679.3_Missense_Mutation_p.P699L|ACACA_ENST00000394406.2_Missense_Mutation_p.P757L|ACACA_ENST00000335166.5_Missense_Mutation_p.P679L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	757	Biotinyl-binding.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCCAGCAGAAGGTGAGCGCAT	0.463000													40	55					0	0	0.00128727	0	0
OR5W2	390148	broad.mit.edu	37	11	55681498	55681498	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55681498G>A	ENST00000344514.1	-	1	560	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAGCGAGAGAGTAATAAGA	0.383000													23	33					0	0	0.00047179	0	0
OR2T8	343172	broad.mit.edu	37	1	248084466	248084466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248084466G>A	ENST00000319968.4	+	1	147	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	49			W -> R (in dbSNP:rs11204564).		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)			TGATTCACTGGGACCACCGGC	0.527000													15	48					0	0	0.00178596	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:182359477C>T	ENST00000397033.2	+	12	1707	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000													25	33					0	0	0.00127121	0	0
PEX19	5824	broad.mit.edu	37	1	160250033	160250033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:160250033G>A	ENST00000368072.5	-	6	619	c.598C>T	c.(598-600)Cca>Tca	p.P200S	DCAF8_ENST00000556710.1_Missense_Mutation_p.P53S|PEX19_ENST00000440949.3_Missense_Mutation_p.P110S|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCATTCTGGATACTAAGAA	0.403000													40	139					0	0	0.00170553	0	0
UNC13C	440279	broad.mit.edu	37	15	54860061	54860061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:54860061C>T	ENST00000545554.1	+	29	6022	c.6022C>T	c.(6022-6024)Cag>Tag	p.Q2008*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q2008*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q2006*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2008	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCAGATCTTCAGTCTCTGAG	0.373000													5	2					0	0	0.000602214	0	0
CLHC1	130162	broad.mit.edu	37	2	55404787	55404787	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:55404787C>T	ENST00000401408.1	-	12	1860	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	CLHC1_ENST00000406437.2_Missense_Mutation_p.M56I|CLHC1_ENST00000407122.1_Missense_Mutation_p.M505I|CLHC1_ENST00000406076.1_Missense_Mutation_p.M383I|CLHC1_ENST00000494539.1_5'UTR	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		CAACTTTTTTCATGTCTGCAG	0.358000													34	34					0	0	0.000692331	0	0
GTF3C3	9330	broad.mit.edu	37	2	197654648	197654648	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:197654648G>A	ENST00000263956.3	-	5	771	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	GTF3C3_ENST00000409364.3_Silent_p.L228L|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	228						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTTGTTCCAGAGACATTTCT	0.338000													18	30					0	0	0.000375601	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040834	23040834	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:23040834G>A	ENST00000390306.2	+	0	444																											CGGCCTCCCTGACAATCTCTG	0.537000													53	71					0	0	0.000781405	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739515	121739515	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:121739515C>T	ENST00000261367.7	+	5	1654	c.226C>T	c.(226-228)Cca>Tca	p.P76S	SNCAIP_ENST00000379538.3_Silent_p.S13S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P29S|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P29S|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P76S|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Silent_p.S19S|SNCAIP_ENST00000504884.2_Missense_Mutation_p.P29S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P76S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	29					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAGACGATCCCAGAACTGTG	0.458000													19	23					0	0	0.00188189	0	0
ASNA1	439	broad.mit.edu	37	19	12848457	12848457	+	Silent	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:12848457T>G	ENST00000591090.1	+	2	240	c.138T>G	c.(136-138)ggT>ggG	p.G46G	ASNA1_ENST00000357332.3_Silent_p.G46G			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	46					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	GGGGCAAGGGTGGTGTGGGCA	0.612000													11	19					0	0	0.000978159	0	0
EMP1	2012	broad.mit.edu	37	12	13366698	13366698	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:13366698T>G	ENST00000256951.5	+	4	458	c.259T>G	c.(259-261)Ttc>Gtc	p.F87V	EMP1_ENST00000544053.1_Missense_Mutation_p.F20V|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Missense_Mutation_p.F20V|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.F87V	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	87					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTTCCAGCTCTTCACCATGGA	0.507000													68	12					0	0	0.000781405	0	0
MC3R	4159	broad.mit.edu	37	20	54824304	54824304	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:54824304C>T	ENST00000243911.2	+	1	517	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	172					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCAACCTCCTGGCCATCG	0.562000													33	43					0	0	0.00058488	0	0
FBN2	2201	broad.mit.edu	37	5	127623002	127623002	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:127623002T>C	ENST00000508053.1	-	60	7852	c.6878A>G	c.(6877-6879)aAa>aGa	p.K2293R	FBN2_ENST00000262464.4_Missense_Mutation_p.K2293R			P35556	FBN2_HUMAN	fibrillin 2	2293	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTTACCTTTGCACATCTT	0.438000													60	58					0	0	0.000781405	0	0
PELP1	27043	broad.mit.edu	37	17	4586150	4586150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:4586150G>A	ENST00000301396.4	-	4	743	c.518C>T	c.(517-519)tCc>tTc	p.S173F	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.S26F|PELP1_ENST00000269230.7_Missense_Mutation_p.S173F|PELP1_ENST00000574876.1_Missense_Mutation_p.S173F|PELP1_ENST00000572293.1_Missense_Mutation_p.S223F			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	173					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GTGGTTCATGGAGATGTCCCG	0.652000													5	7					0	0	0.000602214	0	0
MIB1	57534	broad.mit.edu	37	18	19399522	19399522	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:19399522C>T	ENST00000261537.6	+	12	2008	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	582					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCTAGCAGTTCTTTTGGAAGC	0.383000													36	86					0	0	0.00111076	0	0
NR1H4	9971	broad.mit.edu	37	12	100926345	100926345	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:100926345G>A	ENST00000548884.1	+	5	1096	c.555G>A	c.(553-555)agG>agA	p.R185R	NR1H4_ENST00000188403.7_Silent_p.R195R|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Silent_p.R185R|NR1H4_ENST00000551379.1_Silent_p.R195R	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	195					bile acid metabolic process|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|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GTCGACTAAGGAAATGCAAAG	0.403000													63	10					0	0	0.000781405	0	0
NDST3	9348	broad.mit.edu	37	4	119059315	119059315	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:119059315T>A	ENST00000296499.5	+	5	1734	c.1331T>A	c.(1330-1332)aTt>aAt	p.I444N	NDST3_ENST00000433996.2_Missense_Mutation_p.I363N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	444	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCTGGAATATTAAAATCACC	0.493000													23	15					0	0	0.000295444	0	0
MS4A3	932	broad.mit.edu	37	11	59837105	59837105	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:59837105C>T	ENST00000278865.3	+	6	645	c.572C>T	c.(571-573)aCc>aTc	p.T191I	MS4A3_ENST00000534744.1_Missense_Mutation_p.T145I|MS4A3_ENST00000395032.2_Missense_Mutation_p.T68I|MS4A3_ENST00000358152.2_Missense_Mutation_p.T145I	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	191						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACCATCTCTACCATAGCCATG	0.433000													143	158					0	0	0.000781405	0	0
OR51F1	256892	broad.mit.edu	37	11	4790701	4790701	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:4790701C>T	ENST00000380383.1	-	1	467	c.468G>A	c.(466-468)ctG>ctA	p.L156L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.L149L			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	149						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGTAATCATCAGAAGACCCA	0.428000													25	4					0	0	0.00047179	0	0
RANBP2	5903	broad.mit.edu	37	2	109370326	109370326	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:109370326C>T	ENST00000283195.6	+	15	2227	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	701					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCTTTCTCCTGAAGAACA	0.313000													78	122					0	0	0.000781405	0	0
PSG7	5676	broad.mit.edu	37	19	43430819	43430819	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43430819C>T	ENST00000406070.2	-	0	855				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)				CATCCTTATTCTCCCTGGGGT	0.483000													50	107					0	0	0.000781405	0	0
PHKB	5257	broad.mit.edu	37	16	47699901	47699901	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:47699901C>T	ENST00000299167.8	+	25	2410	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	PHKB_ENST00000566044.1_Silent_p.S788S|PHKB_ENST00000323584.5_Intron|PHKB_ENST00000455779.1_Intron			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	795	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TAGTGGACAGCCTGGCCCCAT	0.463000													18	26					0	0	0.00188189	0	0
MAK	4117	broad.mit.edu	37	6	10784762	10784762	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:10784762C>T	ENST00000313243.2	-	11	1742	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.E454K|MAK_ENST00000474039.1_Missense_Mutation_p.E454K|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	454					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CTCTTGTTTTCCCCTGTCGAG	0.463000													67	63					0	0	0.000781405	0	0
KIAA1586	57691	broad.mit.edu	37	6	56915604	56915604	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:56915604C>T	ENST00000370733.4	+	3	345	c.138C>T	c.(136-138)atC>atT	p.I46I	KIAA1586_ENST00000545356.1_Intron|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	46							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGAATACATCGATCTGGTCT	0.348000													39	102					0	0	0.000781405	0	0
ADAM11	4185	broad.mit.edu	37	17	42837206	42837206	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:42837206G>A	ENST00000200557.6	+	2	347	c.178G>A	c.(178-180)Gga>Aga	p.G60R	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	60					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAGCTCCGGGGGAGAGGTCCG	0.697000													16	11					0	0	0.000308642	0	0
SPATA25	128497	broad.mit.edu	37	20	44515211	44515211	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:44515211C>T	ENST00000372519.3	-	2	673	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	210						integral to membrane											GGGCATCTTCCCAGAGGCTGT	0.587000													47	60					0	0	0.000781405	0	0
C1orf127	148345	broad.mit.edu	37	1	11015072	11015072	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:11015072G>A	ENST00000377004.4	-	9	949	c.950C>T	c.(949-951)cCg>cTg	p.P317L	C1orf127_ENST00000377008.4_Missense_Mutation_p.P150L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	168										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCGGCCGCCGGAATGCTGAC	0.557000													18	20					0	0	0.000375601	0	0
INPP5J	27124	broad.mit.edu	37	22	31524544	31524544	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:31524544G>A	ENST00000331075.5	+	9	2146	c.2097G>A	c.(2095-2097)aaG>aaA	p.K699K	INPP5J_ENST00000401755.1_Silent_p.K64K|INPP5J_ENST00000404390.3_Silent_p.K331K|INPP5J_ENST00000404453.1_Silent_p.K64K|INPP5J_ENST00000400294.2_Silent_p.K332K|INPP5J_ENST00000405300.1_Silent_p.K332K|INPP5J_ENST00000412277.2_Silent_p.K632K|INPP5J_ENST00000402238.1_Silent_p.K64K			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	699	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAGGACGGAAGAGCCACCGAC	0.607000													21	20					0	0	0.000295444	0	0
OR52R1	119695	broad.mit.edu	37	11	4825248	4825248	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:4825248C>T	ENST00000380382.1	-	1	599	c.600G>A	c.(598-600)atG>atA	p.M200I	OR52R1_ENST00000356069.2_Missense_Mutation_p.M121I|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCAGGGCCATAGCCATGA	0.537000													20	6					0	0	0.00121646	0	0
NIPBL	25836	broad.mit.edu	37	5	37019442	37019442	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:37019442A>T	ENST00000282516.8	+	25	5449	c.4950A>T	c.(4948-4950)caA>caT	p.Q1650H	NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1650H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1650					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATCCAACAATTACAAAAAG	0.338000													22	39					0	0	0.00106085	0	0
WNK4	65266	broad.mit.edu	37	17	40939866	40939866	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:40939866C>T	ENST00000246914.5	+	8	1833	c.1812C>T	c.(1810-1812)ccC>ccT	p.P604P	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	604					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCTTCAGCCCCCTGGGGGGG	0.637000													26	47					0	0	0.000720815	0	0
REG1A	5967	broad.mit.edu	37	2	79349995	79349995	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:79349995C>T	ENST00000233735.1	+	5	453	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	117	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGCAGTGGGTCCCTGGTCTCC	0.567000													20	31					0	0	0.00047179	0	0
OTOGL	283310	broad.mit.edu	37	12	80726841	80726841	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:80726841A>C	ENST00000458043.2	+	37	4384	c.4378A>C	c.(4378-4380)Aca>Cca	p.T1460P	OTOGL_ENST00000547103.1_Missense_Mutation_p.T1448P	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACACCAACTACAGGCTTGGA	0.363000													4	1					0	0	0.000602214	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674707	71674707	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:71674707G>A	ENST00000299952.4	+	3	1053	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	340	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGCAAAACAAGAGAGAGGCTC	0.582000													28	31					0	0	0.00106085	0	0
COBLL1	22837	broad.mit.edu	37	2	165578631	165578631	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:165578631G>A	ENST00000375458.2	-	6	1171	c.950C>T	c.(949-951)cCt>cTt	p.P317L	COBLL1_ENST00000342193.4_Missense_Mutation_p.P317L|COBLL1_ENST00000409184.3_Missense_Mutation_p.P355L|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.P383L|COBLL1_ENST00000392717.2_Missense_Mutation_p.P355L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	355										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACAAGAAGCAGGCCTCTCCTG	0.502000													9	16					0	0	0.000442599	0	0
SDHA	6389	broad.mit.edu	37	5	235406	235406	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:235406C>T	ENST00000264932.6	+	9	1327	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	SDHA_ENST00000510361.1_Silent_p.P356P|SDHA_ENST00000504309.1_Silent_p.P404P	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	404					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGTCCTCCCCACCGTGCATT	0.617000									Familial Paragangliomas				18	28					0	0	0.00121646	0	0
KDM6B	23135	broad.mit.edu	37	17	7752206	7752206	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7752206C>T	ENST00000254846.5	+	11	2989	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	KDM6B_ENST00000448097.2_Missense_Mutation_p.S867L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	867	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCTGCTTCCTCGTCATCTCAG	0.716000													9	15					0	0	0.000274275	0	0
ATG3	64422	broad.mit.edu	37	3	112253111	112253111	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:112253111G>A	ENST00000402314.2	-	11	1255	c.868C>T	c.(868-870)Cct>Tct	p.P290S	ATG3_ENST00000283290.5_Intron			Q9NT62	ATG3_HUMAN	autophagy related 3	290					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TACAGGGAAGGATACATATGA	0.343000													20	34					0	0	0.00152264	0	0
RECQL5	9400	broad.mit.edu	37	17	73626700	73626700	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73626700C>T	ENST00000317905.5	-	13	1876	c.1718_splice	c.e13+1	p.E573_splice	RECQL5_ENST00000423245.2_Splice_Site_p.E546_splice|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	573					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGAACTCACTCATCAGCGGTA	0.622000								Other identified genes with known or suspected DNA repair function					14	45					0	0	0.000308642	0	0
LONRF1	91694	broad.mit.edu	37	8	12600738	12600738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:12600738G>A	ENST00000398246.3	-	2	844	c.775C>T	c.(775-777)Caa>Taa	p.Q259*	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	259					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAAACTCTTGGAGACCAGCA	0.294000													11	14					0	0	0.00136819	0	0
AKAP1	8165	broad.mit.edu	37	17	55184399	55184399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:55184399C>T	ENST00000337714.3	+	2	1807	c.1574C>T	c.(1573-1575)tCg>tTg	p.S525L	AKAP1_ENST00000571629.1_Missense_Mutation_p.S525L|AKAP1_ENST00000572557.1_Missense_Mutation_p.S525L|AKAP1_ENST00000314126.3_Missense_Mutation_p.S525L|AKAP1_ENST00000539273.1_Missense_Mutation_p.S525L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	525					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GAGACCAGCTCGAGCCCCAGG	0.572000													95	69					0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54792370	54792370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:54792370G>A	ENST00000306858.7	+	4	790	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	225										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAATTCCATGGAAAAATGGAA	0.333000													18	46					0	0	0.000295444	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103567	2103567	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:2103567C>T	ENST00000400921.2	+	9	1269	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	PRKCZ_ENST00000400920.1_Silent_p.L196L|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	379					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GGACCTGAAGCTGGACAACGT	0.627000													12	18					0	0	0.000978159	0	0
IFT122	55764	broad.mit.edu	37	3	129202459	129202459	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:129202459C>T	ENST00000296266.3	+	16	2130	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	IFT122_ENST00000440957.2_Silent_p.V386V|IFT122_ENST00000431818.2_Silent_p.V445V|IFT122_ENST00000349441.2_Silent_p.V484V|IFT122_ENST00000348417.2_Silent_p.V595V|IFT122_ENST00000347300.2_Silent_p.V536V|IFT122_ENST00000507564.1_Silent_p.V587V|IFT122_ENST00000504021.1_Silent_p.V489V	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	595					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTTTGTGGTCGGCTACAATG	0.582000													12	0					0	0	0.000219431	0	0
HSF5	124535	broad.mit.edu	37	17	56565373	56565373	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:56565373C>T	ENST00000323777.3	-	1	372	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGCGGAAGCCGTAGAGGTT	0.711000													30	24					0	0	0.000491102	0	0
RTKN	6242	broad.mit.edu	37	2	74657620	74657620	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:74657620C>T	ENST00000305557.5	-	5	945	c.360G>A	c.(358-360)aaG>aaA	p.K120K	RTKN_ENST00000272430.5_Silent_p.K133K|RTKN_ENST00000233330.6_Silent_p.K83K	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	133					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						ATTCTGTGTCCTTCCACATGA	0.532000													27	37					0	0	0.001512	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553059	6553059	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:6553059G>A	ENST00000263125.5	-	3	315	c.216C>T	c.(214-216)atC>atT	p.I72I	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.I72I	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	72	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTTCACAATGATCTGCATGA	0.483000													33	40					0	0	0.000491102	0	0
AMOT	154796	broad.mit.edu	37	X	112021840	112021840	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:112021840G>A	ENST00000371959.3	-	11	3209	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	AMOT_ENST00000524145.1_Silent_p.I1070I|AMOT_ENST00000371962.1_Silent_p.I838I|AMOT_ENST00000304758.1_Silent_p.I661I	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1070					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTTGTCCCAGGATCTGAATGG	0.408000													164	28					0	0	0.000781405	0	0
CACNA1S	779	broad.mit.edu	37	1	201047096	201047096	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:201047096C>T	ENST00000362061.3	-	11	1756	c.1530G>A	c.(1528-1530)gaG>gaA	p.E510E	CACNA1S_ENST00000367338.3_Silent_p.E510E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	510					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGCAGGATCTCCAGGATAC	0.582000													36	32					0	0	0.000680045	0	0
MYOCD	93649	broad.mit.edu	37	17	12655875	12655875	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:12655875C>T	ENST00000425538.1	+	10	1470	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	MYOCD_ENST00000395988.1_Missense_Mutation_p.P328S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P424S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	424					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTCACTTTTCCTGTCACACC	0.572000													39	42					0	0	0.000509022	0	0
ALOX15B	247	broad.mit.edu	37	17	7950951	7950951	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7950951C>T	ENST00000380183.4	+	12	1788	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	ALOX15B_ENST00000572022.1_Missense_Mutation_p.S538F|ALOX15B_ENST00000573359.1_Missense_Mutation_p.S476F|ALOX15B_ENST00000380173.2_Missense_Mutation_p.S521F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	550	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCACCTGCTCCGCCAAGCAT	0.627000													5	13					0	0	0.00116845	0	0
LAD1	3898	broad.mit.edu	37	1	201356205	201356205	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:201356205C>T	ENST00000391967.2	-	3	585	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	LAD1_ENST00000367313.3_Missense_Mutation_p.R109Q	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	95						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCTCTGCCTCCGCTCCTGCCG	0.647000													13	51					0	0	0.00185496	0	0
PLAG1	5324	broad.mit.edu	37	8	57080812	57080812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:57080812G>A	ENST00000316981.3	-	4	496	c.17C>T	c.(16-18)cCt>cTt	p.P6L	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.P6L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	6	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CAAATCACCAGGAATGACAGT	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								4	23					0	0	0.000602214	0	0
BRF2	55290	broad.mit.edu	37	8	37702229	37702229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:37702229G>A	ENST00000220659.6	-	4	1159	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	347					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGCTTCCCCTGGGGTAAACCT	0.617000													20	20					0	0	0.00152264	0	0
ZNF701	55762	broad.mit.edu	37	19	53086149	53086149	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53086149C>T	ENST00000540331.1	+	5	1260	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Silent_p.F279F|ZNF701_ENST00000301093.2_Silent_p.F345F	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GCAAGACATTCAGTCACAATT	0.418000													17	22					0	0	0.000566183	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655310	139655310	+	Missense_Mutation	SNP	C	C	T	rs138612126	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:139655310C>T	ENST00000263552.6	+	11	1133	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	TBXAS1_ENST00000411653.1_Missense_Mutation_p.P198S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P244S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P245S|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P131S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P198S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P198S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P199S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P199S	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	198					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTTTGGCACCCCGGTGGACTC	0.547000													32	49					0	0	0.000339439	0	0
PIWIL4	143689	broad.mit.edu	37	11	94300761	94300761	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:94300761C>T	ENST00000299001.6	+	1	288	c.77C>T	c.(76-78)gCc>gTc	p.A26V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	26					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGCATCCAAGCCTCGCCATTG	0.572000													12	9					0	0	0.00185496	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108582	75108582	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:75108582C>T	ENST00000309664.5	+	2	399	c.260C>T	c.(259-261)cCc>cTc	p.P87L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P87L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	87	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTCTGTCCCCTTCTCTGCC	0.662000													4	8					0	0	0.00024832	0	0
TTC3	7267	broad.mit.edu	37	21	38538329	38538329	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:38538329C>T	ENST00000399017.2	+	33	6560	c.3813C>T	c.(3811-3813)ccC>ccT	p.P1271P	TTC3_ENST00000355666.1_Silent_p.P1271P|TTC3_ENST00000354749.2_Silent_p.P1271P|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1271					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGGGCAACCCAAAGGGGTCT	0.468000													41	51					0	0	0.00195071	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:141777598C>T	ENST00000389484.3	-	12	2834	c.1863G>A	c.(1861-1863)agG>agA	p.R621R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	621					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)			10	13					0	0	0.000673444	0	0
SNX11	29916	broad.mit.edu	37	17	46198670	46198670	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:46198670G>A	ENST00000393405.2	+	8	967	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	SNX11_ENST00000359238.2_Missense_Mutation_p.E205K|SNX11_ENST00000582104.1_Missense_Mutation_p.E197K|SNX11_ENST00000452859.2_Missense_Mutation_p.E61K|SNX11_ENST00000439357.2_Missense_Mutation_p.E144K|SNX11_ENST00000580219.1_Missense_Mutation_p.E197K	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	205					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGACCATTTAGAAGTGTGGGC	0.507000													56	83					0	0	0.000781405	0	0
GABRQ	55879	broad.mit.edu	37	X	151818284	151818284	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:151818284C>T	ENST00000370306.2	+	6	710	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	230						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCATATCCCTCAGTTCA	0.488000													50	5					0	0	0.000781405	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088864	65088864	+	Silent	SNP	G	G	A	rs140875363	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:65088864G>A	ENST00000544348.1	+	2	1101	c.495G>A	c.(493-495)ccG>ccA	p.P165P	CDC42EP2_ENST00000533419.1_Silent_p.P165P|CDC42EP2_ENST00000279249.2_Silent_p.P165P			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	165					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						GACTGACCCCGGAGTCAGGGG	0.637000													20	15					0	0	0.00152264	0	0
ERBB4	2066	broad.mit.edu	37	2	212652880	212652880	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:212652880G>A	ENST00000342788.4	-	4	736	c.426C>T	c.(424-426)atC>atT	p.I142I	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.I142I|ERBB4_ENST00000402597.1_Silent_p.I142I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	142					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACCATTTAGGATTTCTGTAT	0.333000										TSP Lung(8;0.080)			9	12					0	0	0.000442599	0	0
OR7E24	26648	broad.mit.edu	37	19	9361851	9361851	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9361851C>T	ENST00000456448.1	+	1	246	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGCAGCCGGTCCTCGCTGGGC	0.577000													8	14					0	0	0.000274275	0	0
XIRP2	129446	broad.mit.edu	37	2	168115011	168115011	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:168115011G>A	ENST00000409728.1	+	11	2143	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R685K|XIRP2_ENST00000409043.1_Missense_Mutation_p.R652K|XIRP2_ENST00000409756.2_Missense_Mutation_p.R652K|XIRP2_ENST00000409605.1_Missense_Mutation_p.R430K|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2763					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAGTAACAGGAAAAGTGCT	0.368000													4	3					0	0	0.00024832	0	0
PSMA8	143471	broad.mit.edu	37	18	23731865	23731865	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:23731865G>A	ENST00000308268.6	+	3	380	c.291G>A	c.(289-291)gtG>gtA	p.V97V	PSMA8_ENST00000415576.2_Silent_p.V91V|PSMA8_ENST00000343848.6_Silent_p.V53V	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	97					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GAGCCCGTGTGGAGTGCCAGA	0.368000													16	22					0	0	0.000308642	0	0
NEURL4	84461	broad.mit.edu	37	17	7229762	7229762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7229762G>A	ENST00000399464.2	-	5	1213	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q400*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q378*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTACCTGACTGGAGGTTGGTC	0.597000													40	42					0	0	0.00195071	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526640	97526640	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:97526640G>A	ENST00000305476.5	-	15	2357	c.2225C>T	c.(2224-2226)tCc>tTc	p.S742F		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	742	Pro-rich.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TATCTTAAGGGAGCCATCTGA	0.627000													29	25					0	0	0.000339439	0	0
LRIG2	9860	broad.mit.edu	37	1	113637023	113637023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:113637023C>T	ENST00000361127.4	+	5	776	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	193						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTATCAAGTTCCTTATTAGTG	0.348000													48	50					0	0	0.000781405	0	0
MYH7	4625	broad.mit.edu	37	14	23886133	23886133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:23886133G>A	ENST00000355349.3	-	33	4750	c.4588C>T	c.(4588-4590)Cga>Tga	p.R1530*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1530					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGCTGCTTTCGGACCTTCTCC	0.602000													34	38					0	0	0.00058488	0	0
PRRC1	133619	broad.mit.edu	37	5	126883513	126883513	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:126883513G>T	ENST00000442138.2	+	8	1174	c.1028G>T	c.(1027-1029)tGg>tTg	p.W343L	PRRC1_ENST00000512635.2_Missense_Mutation_p.W343L|PRRC1_ENST00000296666.8_Missense_Mutation_p.W343L			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	343						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TGTTGCAGATGGTTTGACATT	0.353000													7	68					0.000274275	0.00172819	0.000274275	1	0
REG4	83998	broad.mit.edu	37	1	120345554	120345554	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:120345554C>T	ENST00000369401.4	-	3	567	c.302G>A	c.(301-303)aGa>aAa	p.R101K	REG4_ENST00000354219.1_Intron|REG4_ENST00000530654.1_Intron|REG4_ENST00000256585.5_Intron	NM_001159353.1	NP_001152825.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ACCCTCTTCTCTCCATTTCAC	0.488000													173	253					0	0	0.000781405	0	0
OR10K1	391109	broad.mit.edu	37	1	158436191	158436191	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158436191C>T	ENST00000289451.2	+	1	920	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATACACCATCCTTACCCCAT	0.393000													26	50					0	0	0.001512	0	0
SETBP1	26040	broad.mit.edu	37	18	42531999	42531999	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:42531999C>T	ENST00000282030.5	+	4	2990	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	898						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTTCTGCTCCCTGGACAACC	0.552000									Schinzel-Giedion syndrome				18	12					0	0	0.000566183	0	0
PDE6B	5158	broad.mit.edu	37	4	658000	658000	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:658000G>A	ENST00000255622.6	+	17	2162	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E707K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	707					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GACCCGGAAGGAGATCGTCAT	0.617000													33	31					0	0	0.000692331	0	0
OR2T8	343172	broad.mit.edu	37	1	248084465	248084465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248084465G>A	ENST00000319968.4	+	1	146	c.146G>A	c.(145-147)tGg>tAg	p.W49*		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	49			W -> R (in dbSNP:rs11204564).		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)			CTGATTCACTGGGACCACCGG	0.527000													13	48					0	0	0.00127121	0	0
BRIP1	83990	broad.mit.edu	37	17	59761105	59761105	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:59761105G>A	ENST00000259008.2	-	20	3569	c.3302C>T	c.(3301-3303)cCa>cTa	p.P1101L		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1101					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTCAATGTCTGGATCCAGGGC	0.358000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					50	104					0	0	0.000781405	0	0
ZNF611	81856	broad.mit.edu	37	19	53208329	53208329	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53208329A>T	ENST00000543227.1	-	6	2253	c.1979T>A	c.(1978-1980)gTg>gAg	p.V660E	ZNF611_ENST00000602162.1_Missense_Mutation_p.V591E|ZNF611_ENST00000319783.1_Missense_Mutation_p.V660E|ZNF611_ENST00000595798.1_Missense_Mutation_p.V591E|ZNF611_ENST00000453741.2_Missense_Mutation_p.V591E|ZNF611_ENST00000540744.1_Missense_Mutation_p.V660E	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGAATTACGCACGAAAGCCTT	0.403000													54	77					0	0	0.000781405	0	0
OR2W3	343171	broad.mit.edu	37	1	248059135	248059135	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248059135T>C	ENST00000537741.1	+	3	504	c.247T>C	c.(247-249)Tac>Cac	p.Y83H	OR2W3_ENST00000360358.3_Missense_Mutation_p.Y83H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			CCAGCTGCTCTACAACCTTAA	0.587000													35	78					0	0	0.000953801	0	0
EHD1	10938	broad.mit.edu	37	11	64622919	64622919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64622919G>A	ENST00000320631.3	-	4	1209	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	EHD1_ENST00000359393.2_Missense_Mutation_p.P319S	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	319					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGACATTGGGCATCTCTTTC	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	43	59					0	0	0.000680045	0	0
NPSR1	387129	broad.mit.edu	37	7	34724190	34724190	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:34724190C>T	ENST00000360581.1	+	2	302	c.174C>T	c.(172-174)gtC>gtT	p.V58V	NPSR1_ENST00000359791.1_Silent_p.V58V|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.V58V|NPSR1_ENST00000381539.3_Silent_p.V58V|NPSR1_ENST00000381553.3_Silent_p.V58V|NPSR1_ENST00000531252.1_Silent_p.V58V|NPSR1_ENST00000465305.1_Silent_p.V58V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	58						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTCTGTGGGTCCTCTTTGTTT	0.433000													21	59					0	0	0.000720815	0	0
OR6N2	81442	broad.mit.edu	37	1	158746637	158746637	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158746637C>T	ENST00000339258.1	-	1	788	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATAGCTCTTCTTTAGCCGCA	0.443000													22	39					0	0	0.00188189	0	0
HCN1	348980	broad.mit.edu	37	5	45262144	45262144	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:45262144G>C	ENST00000303230.4	-	8	2609	c.2552C>G	c.(2551-2553)cCc>cGc	p.P851R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	851						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGTTCGGGGGGATGGCTCC	0.642000													30	36					0	0	0.00178596	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378688	114378688	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:114378688G>A	ENST00000312719.5	-	5	1962	c.774C>T	c.(772-774)ctC>ctT	p.L258L	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L258L|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	258					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTTCCGTGATGAGGCGATCTC	0.428000													25	11					0	0	0.000586117	0	0
CPNE2	221184	broad.mit.edu	37	16	57159865	57159865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57159865G>A	ENST00000535318.2	+	12	1382	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	CPNE2_ENST00000290776.8_Missense_Mutation_p.A341T|CPNE2_ENST00000565874.1_Missense_Mutation_p.A341T|CPNE2_ENST00000537605.1_Missense_Mutation_p.A239T|CPNE2_ENST00000565951.1_3'UTR			Q96FN4	CPNE2_HUMAN	copine II	341	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATATCTGTCGGCCATCTGGGC	0.532000													19	27					0	0	0.00121646	0	0
GPR6	2830	broad.mit.edu	37	6	110300402	110300402	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:110300402G>A	ENST00000414000.2	+	3	371	c.132G>A	c.(130-132)ggG>ggA	p.G44G	GPR6_ENST00000275169.3_Silent_p.G29G			P46095	GPR6_HUMAN	G protein-coupled receptor 6	29						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)		cagcagcaggggggccggACA	0.721000													25	1					0	0	0.000586117	0	0
CELSR3	1951	broad.mit.edu	37	3	48677117	48677117	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:48677117G>A	ENST00000544264.1	-	35	10196	c.9916C>T	c.(9916-9918)Cca>Tca	p.P3306S	CELSR3_ENST00000164024.4_Missense_Mutation_p.P3301S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3301					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGAGTCTGGCGACAGCTCC	0.607000													41	75					0	0	0.00195071	0	0
MARCH2	51257	broad.mit.edu	37	19	8503361	8503361	+	Silent	SNP	C	C	A	rs143906987	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:8503361C>A	ENST00000602117.1	+	5	1127	c.672C>A	c.(670-672)ccC>ccA	p.P224P	MARCH2_ENST00000393944.1_Silent_p.P224P|MARCH2_ENST00000215555.2_Silent_p.P224P|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Silent_p.P154P			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	224					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGACAGCCCCGAGGGCCCCC	0.612000													21	29					1.22574e-08	7.80136e-08	0.000295444	1	0
PTPN4	5775	broad.mit.edu	37	2	120720203	120720203	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:120720203C>T	ENST00000263708.2	+	24	3063	c.2292C>T	c.(2290-2292)caC>caT	p.H764H	PTPN4_ENST00000544261.1_Silent_p.H397H	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	764	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTAAATGTCACCAATATTGGC	0.303000													11	14					0	0	0.000673444	0	0
PCLO	27445	broad.mit.edu	37	7	82435017	82435017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:82435017G>A	ENST00000333891.8	-	21	15257	c.14920C>T	c.(14920-14922)Cct>Tct	p.P4974S		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4897	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCGGAATAGGAAATAGATTA	0.473000													6	7					0	0	8.12818e-05	0	0
RNF168	165918	broad.mit.edu	37	3	196199338	196199338	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:196199338G>A	ENST00000318037.3	-	6	1662	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	356					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGATGTGGGGGCGCACCCAC	0.453000													70	68					0	0	0.000781405	0	0
GGA2	23062	broad.mit.edu	37	16	23489718	23489718	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:23489718G>A	ENST00000309859.4	-	13	1345	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	421	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GTGCTGAGAGGAGGTCCAGCA	0.587000													16	37					0	0	0.000422831	0	0
OBSCN	84033	broad.mit.edu	37	1	228503687	228503687	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:228503687G>A	ENST00000570156.2	+	61	16097	c.16023G>A	c.(16021-16023)gaG>gaA	p.E5341E	OBSCN_ENST00000284548.11_Silent_p.E4384E|OBSCN_ENST00000366707.4_Silent_p.E2018E|OBSCN_ENST00000422127.1_Silent_p.E4384E|OBSCN_ENST00000366709.4_Silent_p.E1503E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4384	Ig-like 50.				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)				ACACCTCGGAGAACGCCGAGG	0.677000													9	6					0	0	0.000673444	0	0
PHLDB2	90102	broad.mit.edu	37	3	111693387	111693387	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:111693387G>T	ENST00000431670.2	+	18	4150	c.3739G>T	c.(3739-3741)Ggt>Tgt	p.G1247C	PHLDB2_ENST00000481953.1_Missense_Mutation_p.G1204C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G1204C|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G1231C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.G738C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G1247C	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1247						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGGGGCAGAAGGTTACACTCA	0.463000													31	63					2.87052e-16	1.84833e-15	0.00111076	1	0
KCNA7	3743	broad.mit.edu	37	19	49573344	49573344	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49573344C>T	ENST00000221444.1	-	2	1702	c.1347G>A	c.(1345-1347)ggG>ggA	p.G449G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	449						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCAGGTGTTTCCCTGGGGGTG	0.647000													25	44					0	0	0.00127121	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664920	176664920	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:176664920C>T	ENST00000367662.3	+	7	3835	c.2671C>T	c.(2671-2673)Cgt>Tgt	p.R891C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	891					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGACCTTTCGTCAGTATGT	0.532000													48	26					0	0	0.000781405	0	0
SP7	121340	broad.mit.edu	37	12	53722750	53722750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:53722750C>T	ENST00000536324.2	-	3	759	c.476G>A	c.(475-477)tGg>tAg	p.W159*	SP7_ENST00000303846.3_Nonsense_Mutation_p.W159*|SP7_ENST00000537210.2_Nonsense_Mutation_p.W141*	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTGCATATCCCACCATGGAGT	0.602000													20	5					0	0	0.000958276	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	39					0	0	0.000602214	0	0
LRCH4	4034	broad.mit.edu	37	7	100174612	100174612	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100174612T>A	ENST00000310300.6	-	13	1433	c.1381A>T	c.(1381-1383)Agt>Tgt	p.S461C	LRCH4_ENST00000497245.1_Missense_Mutation_p.S9C	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	461					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGAGGCACTGGACTTAGGC	0.632000													6	5					0	0	0.00116845	0	0
CDH4	1002	broad.mit.edu	37	20	60503270	60503270	+	Silent	SNP	C	C	T	rs113168761	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:60503270C>T	ENST00000360469.5	+	12	1882	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	CDH4_ENST00000543233.1_Silent_p.T524T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	598	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAGCGGCACCGGGACCCTCC	0.612000													42	74					0	0	0.000781405	0	0
NLRP3	114548	broad.mit.edu	37	1	247588449	247588449	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247588449C>T	ENST00000366497.2	+	4	2484	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	NLRP3_ENST00000348069.2_Silent_p.F568F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.F568F|NLRP3_ENST00000391828.3_Silent_p.F568F|NLRP3_ENST00000336119.3_Silent_p.F568F|NLRP3_ENST00000366496.2_Silent_p.F568F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	568					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)			ATGGCAAATTCGAAAAGGGGT	0.463000													30	55					0	0	0.00178596	0	0
C6orf58	352999	broad.mit.edu	37	6	127898534	127898534	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:127898534G>A	ENST00000329722.7	+	1	216	c.204G>A	c.(202-204)ttG>ttA	p.L68L	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	68						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAATCATATTGAATCAGACAG	0.418000													25	0					0	0	0.000586117	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176770	142176770	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142176770G>A	ENST00000390369.2	-	0	20																											GGACCACCCAGCAGAGGAGCC	0.537000													29	30					0	0	0.000491102	0	0
SPINK5	11005	broad.mit.edu	37	5	147486600	147486600	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:147486600G>A	ENST00000359874.3	+	17	1553	c.1479_splice	c.e17-1	p.E494_splice	SPINK5_ENST00000398454.1_Splice_Site_p.E494_splice|SPINK5_ENST00000256084.7_Splice_Site_p.E494_splice	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	494	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTCCCAGGAAATCTGCAG	0.393000													12	14					0	0	0.00185496	0	0
TNN	63923	broad.mit.edu	37	1	175049373	175049373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:175049373C>T	ENST00000239462.4	+	4	972	c.859C>T	c.(859-861)Cag>Tag	p.Q287*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	287	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCTCCAGCCAGGTGGATCA	0.597000													8	41					0	0	0.000157383	0	0
SCN2A	6326	broad.mit.edu	37	2	166165764	166165764	+	Missense_Mutation	SNP	C	C	T	rs2228981		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:166165764C>T	ENST00000357398.3	+	6	985	c.695C>T	c.(694-696)cCa>cTa	p.P232L	SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.P232L|SCN2A_ENST00000375437.2_Intron			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	232					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCTGTAATTCCAGGTAAGAAG	0.373000													12	17					0	0	0.000978159	0	0
NXN	64359	broad.mit.edu	37	17	704349	704349	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:704349C>T	ENST00000336868.3	-	8	1239	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	NXN_ENST00000575801.1_Missense_Mutation_p.R275Q|NXN_ENST00000537628.2_Missense_Mutation_p.R134Q|NXN_ENST00000538650.1_Missense_Mutation_p.R74Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	383					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGTGTAATCTCGCAGGGAGTC	0.587000													14	28					0	0	0.000566183	0	0
PARP4	143	broad.mit.edu	37	13	25077796	25077796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:25077796G>A	ENST00000381989.3	-	2	224	c.119C>T	c.(118-120)tCg>tTg	p.S40L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	40	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGATTTAACGAAAAGGAAAA	0.383000													27	55					0	0	0.00127121	0	0
THSD4	79875	broad.mit.edu	37	15	72020924	72020924	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:72020924G>A	ENST00000355327.3	+	9	1528	c.1394G>A	c.(1393-1395)gGg>gAg	p.G465E	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.G465E|THSD4_ENST00000357769.4_Missense_Mutation_p.G105E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	465						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCATCAATGGGAACTGGGCA	0.502000													48	64					0	0	0.000781405	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115607	15115607	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:15115607G>A	ENST00000253699.3	-	14	2650	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	ZFYVE20_ENST00000476527.2_Silent_p.F679F	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	679	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGGCTGAATGAATGGATTCC	0.557000													58	79					0	0	0.000781405	0	0
SYTL1	84958	broad.mit.edu	37	1	27679914	27679914	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:27679914C>T	ENST00000543823.1	+	13	1946	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	SYTL1_ENST00000318074.5_Missense_Mutation_p.S483F|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	495	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGAGCTCTCCCTCTGGGAC	0.657000													16	17					0	0	0.00152264	0	0
SMPD4	55627	broad.mit.edu	37	2	130930248	130930248	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:130930248G>A	ENST00000409031.1	-	7	1722	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.P119S|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.P79S|SMPD4_ENST00000351288.6_Missense_Mutation_p.P192S|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	153					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	tactcGAACGGATCTGAGAGC	0.587000													29	57					0	0	0.000339439	0	0
MYO18B	84700	broad.mit.edu	37	22	26164791	26164791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:26164791G>A	ENST00000335473.7	+	4	1158	c.908G>A	c.(907-909)gGg>gAg	p.G303E	MYO18B_ENST00000536101.1_Missense_Mutation_p.G303E|MYO18B_ENST00000407587.2_Missense_Mutation_p.G303E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	303						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGGACGTAGGGAGTGAAGGG	0.587000													3	5					0	0	6.4e-05	0	0
SLC27A4	10999	broad.mit.edu	37	9	131105465	131105465	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:131105465G>A	ENST00000372870.1	+	2	253	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SLC27A4_ENST00000300456.3_Silent_p.L18L			Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	0					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGCTGGTGCTGAAACTGCCCT	0.602000													14	6					0	0	0.000219431	0	0
DTNA	1837	broad.mit.edu	37	18	32374194	32374194	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:32374194C>T	ENST00000283365.9	+	5	693	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Silent_p.F114F|DTNA_ENST00000598774.1_Silent_p.F114F|DTNA_ENST00000597599.1_Silent_p.F114F|DTNA_ENST00000348997.5_Silent_p.F114F|DTNA_ENST00000598142.1_Silent_p.F114F|DTNA_ENST00000554864.3_Silent_p.F114F|DTNA_ENST00000444659.1_Silent_p.F114F|DTNA_ENST00000399113.3_Silent_p.F114F|DTNA_ENST00000595022.1_Silent_p.F114F|DTNA_ENST00000269191.6_Silent_p.F114F|DTNA_ENST00000596745.1_Silent_p.F114F|DTNA_ENST00000315456.6_Silent_p.F114F|DTNA_ENST00000399121.5_Silent_p.F114F|DTNA_ENST00000269190.7_Silent_p.F114F	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	114	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.F114F(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCTTAACTTCCTGCTTGCAG	0.468000													26	43					0	0	0.000586117	0	0
SCN5A	6331	broad.mit.edu	37	3	38647623	38647623	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:38647623C>T	ENST00000413689.1	-	10	1350	c.1157G>A	c.(1156-1158)gGg>gAg	p.G386E	SCN5A_ENST00000333535.4_Missense_Mutation_p.G386E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G386E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G386E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G386E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G386E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G386E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G386E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G386E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G386E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	386					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTAGATCTTCCCTGCGGACCT	0.562000													16	29					0	0	0.000422831	0	0
KYNU	8942	broad.mit.edu	37	2	143743579	143743579	+	Silent	SNP	G	G	A	rs140758594		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:143743579G>A	ENST00000264170.4	+	10	1149	c.891G>A	c.(889-891)acG>acA	p.T297T	KYNU_ENST00000409512.1_Silent_p.T297T|KYNU_ENST00000375773.2_Silent_p.T297T	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	297					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.T297T(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATGCCCATACGATTAAACCTG	0.328000													7	3					0	0	0.000157383	0	0
ZNF611	81856	broad.mit.edu	37	19	53208656	53208656	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53208656G>A	ENST00000543227.1	-	6	1926	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	ZNF611_ENST00000602162.1_Missense_Mutation_p.S482F|ZNF611_ENST00000319783.1_Missense_Mutation_p.S551F|ZNF611_ENST00000595798.1_Missense_Mutation_p.S482F|ZNF611_ENST00000453741.2_Missense_Mutation_p.S482F|ZNF611_ENST00000540744.1_Missense_Mutation_p.S551F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCCAGATAGGAATGACACGC	0.403000													78	109					0	0	0.000781405	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094910	30094910	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:30094910C>T	ENST00000449726.1	+	9	1341	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.P331S|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.P331S|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.P331S	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	331					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAGTGGCATTCCCACAGAAGC	0.403000													41	66					0	0	0.000781405	0	0
NLRC5	84166	broad.mit.edu	37	16	57111870	57111870	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57111870C>T	ENST00000262510.6	+	43	5244	c.5019C>T	c.(5017-5019)gcC>gcT	p.A1673A	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.A1644A|NLRC5_ENST00000539144.1_Silent_p.A1644A	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1673					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGCAATGCCCTGGGGGATC	0.672000													16	20					0	0	0.00074312	0	0
SLIT2	9353	broad.mit.edu	37	4	20512168	20512168	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:20512168C>T	ENST00000504154.1	+	10	1217	c.965C>T	c.(964-966)cCa>cTa	p.P322L	SLIT2_ENST00000503837.1_Missense_Mutation_p.P326L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P322L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P326L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	322					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTTTCTCACCATATAAAAAG	0.328000													69	83					0	0	0.000781405	0	0
NBPF1	55672	broad.mit.edu	37	1	16892178	16892178	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:16892178G>A	ENST00000430580.2	-	27	3901	c.3014C>T	c.(3013-3015)tCc>tTc	p.S1005F		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCATAAAAGGAACTTCCATA	0.453000													29	690					0	0	0.000878237	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98735349	98735349	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:98735349G>A	ENST00000407474.3	+	1	772	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GCAGTCGTATGAATCAATGGA	0.279000													4	0					0	0	0.000602214	0	0
SALL3	27164	broad.mit.edu	37	18	76754350	76754350	+	Missense_Mutation	SNP	G	G	A	rs2974290		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:76754350G>A	ENST00000536229.3	+	1	2669	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	SALL3_ENST00000575389.2_Missense_Mutation_p.D787N|SALL3_ENST00000537592.2_Missense_Mutation_p.D787N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCTACGACGACAAGAACGC	0.647000													7	9					0	0	0.000157383	0	0
VCAN	1462	broad.mit.edu	37	5	82816935	82816935	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:82816935T>A	ENST00000265077.3	+	7	3375	c.2810T>A	c.(2809-2811)gTa>gAa	p.V937E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V937E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.V889E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	937	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTAAGCCAGTATCTACTGTT	0.438000													31	38					0	0	0.000692331	0	0
BICC1	80114	broad.mit.edu	37	10	60273023	60273023	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:60273023C>T	ENST00000373886.3	+	1	124	c.120C>T	c.(118-120)acC>acT	p.T40T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	40					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCGGGGCGACCCTGCACAGCC	0.677000													9	16					0	0	0.000673444	0	0
MLXIPL	51085	broad.mit.edu	37	7	73013866	73013866	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:73013866C>T	ENST00000313375.3	-	8	1108	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	MLXIPL_ENST00000414749.2_Missense_Mutation_p.S354N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S354N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.S261N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S354N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.S261N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	354					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCAGACGGCTGTGTCCAGA	0.637000													17	47					0	0	0.00074312	0	0
ATP10B	23120	broad.mit.edu	37	5	160067517	160067517	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:160067517G>A	ENST00000327245.5	-	10	1797	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	317					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCAGAAGAAGATGTCTATAT	0.473000													34	59					0	0	0.00111076	0	0
MBD5	55777	broad.mit.edu	37	2	149243361	149243361	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:149243361C>T	ENST00000407073.1	+	11	3893	c.2896C>T	c.(2896-2898)Cta>Tta	p.L966L	MBD5_ENST00000404807.1_Silent_p.L1199L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	966						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACTGACTCATCTACAGTCGCT	0.383000													7	11					0	0	8.12818e-05	0	0
CALML3	810	broad.mit.edu	37	10	5567427	5567427	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:5567427C>T	ENST00000315238.1	+	1	504	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	127	EF-hand 4.						calcium ion binding	p.R127W(1)		endometrium(3)|lung(2)	5						CGAGATGATCCGGGCCGCGGA	0.667000													15	17					0	0	0.000422831	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604343	26604343	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:26604343G>A	ENST00000577198.1	-	0	618					NR_028334.1																						GGAGAGGGTGGAGCAAGTGGT	0.547000													22	33					0	0	0.00047179	0	0
C21orf59	56683	broad.mit.edu	37	21	33974257	33974257	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:33974257G>A	ENST00000290155.3	-	7	1411	c.789C>T	c.(787-789)gcC>gcT	p.A263A	C21orf59_ENST00000382549.4_3'UTR|C21ORF59_ENST00000607686.1_3'UTR	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	263						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						AGTTTAAATAGGCATCATCAT	0.383000													39	64					0	0	0.000680045	0	0
RECQL4	9401	broad.mit.edu	37	8	145737578	145737578	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:145737578C>T	ENST00000428558.2	-	19	3226	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1062					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCGCTCCCGGGCCTGCAC	0.662000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	14					0	0	0.00024832	0	0
PLB1	151056	broad.mit.edu	37	2	28741348	28741348	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:28741348C>T	ENST00000422425.2	+	3	177	c.133C>T	c.(133-135)Cca>Tca	p.P45S	PLB1_ENST00000327757.5_Missense_Mutation_p.P45S	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	45	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAAGAATTCTCCATTCCCATG	0.408000													30	38					0	0	0.000814825	0	0
ZNF331	55422	broad.mit.edu	37	19	54080169	54080169	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54080169C>T	ENST00000253144.9	+	7	1688	c.355C>T	c.(355-357)Cct>Tct	p.P119S	ZNF331_ENST00000512387.1_Missense_Mutation_p.P119S|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.P119S|ZNF331_ENST00000449416.1_Missense_Mutation_p.P119S|ZNF331_ENST00000411977.2_Missense_Mutation_p.P119S|ZNF331_ENST00000513999.1_Missense_Mutation_p.P119S|ZNF331_ENST00000511154.1_Missense_Mutation_p.P119S	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGGCACCCCTCCTAGAACACA	0.438000			T	?	follicular thyroid adenoma								46	53					0	0	0.000781405	0	0
IGSF9	57549	broad.mit.edu	37	1	159901383	159901383	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:159901383C>T	ENST00000368094.1	-	12	1570	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Missense_Mutation_p.G442E	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	458	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTTGCAGCCCCCGGCCCAC	0.647000													29	18					0	0	0.001512	0	0
VN1R4	317703	broad.mit.edu	37	19	53770837	53770837	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53770837G>A	ENST00000311170.4	-	1	135	c.82C>T	c.(82-84)Cat>Tat	p.H28Y		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	28					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAGAGATAATGGAGAAGAACA	0.498000										HNSCC(26;0.072)			21	42					0	0	0.00152264	0	0
SLC25A18	83733	broad.mit.edu	37	22	18064157	18064157	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:18064157G>A	ENST00000327451.5	+	5	715	c.177G>A	c.(175-177)gaG>gaA	p.E59E	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Silent_p.E59E	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	59						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CTCGGGCGGAGGGCTTCTTCG	0.637000													22	51					0	0	0.000295444	0	0
GGA1	26088	broad.mit.edu	37	22	38028055	38028055	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38028055C>T	ENST00000406772.1	+	16	2014	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	GGA1_ENST00000381756.5_Silent_p.F544F|GGA1_ENST00000343632.4_Silent_p.F527F|GGA1_ENST00000337437.4_Silent_p.F494F|GGA1_ENST00000325180.8_Silent_p.F440F	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	527	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCATCCTCTTCCATTTTGCCC	0.632000													19	24					0	0	0.000958276	0	0
COL11A1	1301	broad.mit.edu	37	1	103352467	103352467	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:103352467G>A	ENST00000358392.2	-	63	5107	c.4790C>T	c.(4789-4791)tCc>tTc	p.S1597F	COL11A1_ENST00000353414.4_Missense_Mutation_p.S1546F|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1469F|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1585F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1585	Fibrillar collagen NC1.				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)		TTGTTTCAGGGAATTGAGGGA	0.413000													17	47					0	0	0.00121646	0	0
LRRC36	55282	broad.mit.edu	37	16	67399213	67399213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:67399213G>A	ENST00000329956.6	+	7	728	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.E116K|LRRC36_ENST00000563189.1_Missense_Mutation_p.E116K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	237										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTAGACACAGGAAGTAGCAAG	0.403000													7	12					0	0	0.000442599	0	0
PAX8	7849	broad.mit.edu	37	2	113984806	113984806	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:113984806G>A	ENST00000429538.3	-	10	1309	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	PAX8_ENST00000263334.5_Missense_Mutation_p.P346S|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P269S|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P346S	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	372					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGGGTATCCGGGCAGCGTGGG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis						7	7					0	0	0.000157383	0	0
FMN2	56776	broad.mit.edu	37	1	240371608	240371608	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:240371608C>T	ENST00000319653.9	+	5	3726	c.3496C>T	c.(3496-3498)Ccc>Tcc	p.P1166S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1166	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCACCTCCCCCTCTACC	0.692000													7	0					0	0	0.000978159	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600434	3600434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:3600434G>A	ENST00000375190.4	-	2	592	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67F|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67F	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	67					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGGCCGCAGAGGAAGGTGAGG	0.706000													15	12					0	0	0.000308642	0	0
DCTD	1635	broad.mit.edu	37	4	183836694	183836694	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:183836694C>T	ENST00000438320.2	-	2	318	c.28G>A	c.(28-30)Gac>Aac	p.D10N	DCTD_ENST00000510370.1_Missense_Mutation_p.D10N|DCTD_ENST00000357067.3_Missense_Mutation_p.D21N|DCTD_ENST00000513383.1_5'UTR	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	10					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		AAATAGTCGTCCCGTTTCTTG	0.408000													70	128					0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158614107	158614107	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158614107G>A	ENST00000368148.3	-	30	4454	c.4274C>T	c.(4273-4275)tCc>tTc	p.S1425F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1425F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1425					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTGTCTAAGGAACTTTTGTC	0.423000													17	10					0	0	0.00074312	0	0
RNF10	9921	broad.mit.edu	37	12	121000873	121000873	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:121000873G>A	ENST00000325954.4	+	8	1715	c.1254_splice	c.e8+1	p.K418_splice	RNF10_ENST00000413266.2_Splice_Site_p.K418_splice	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	418					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCCAGGAAGGTTAGTGTGT	0.512000													49	9					0	0	0.000781405	0	0
OR12D3	81797	broad.mit.edu	37	6	29342984	29342984	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29342984C>T	ENST00000396806.3	-	1	84	c.81G>A	c.(79-81)ggG>ggA	p.G27G	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTAAGAAAATCCCAAAGAAGA	0.388000													25	15					0	0	0.00127121	0	0
SUCO	51430	broad.mit.edu	37	1	172501872	172501872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:172501872G>A	ENST00000367723.3	+	1	384	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AGAGAAAAACGAATTCTGGAA	0.517000													18	55					0	0	0.000566183	0	0
MUC4	4585	broad.mit.edu	37	3	195515738	195515738	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:195515738A>G	ENST00000463781.3	-	2	3172	c.2713T>C	c.(2713-2715)Tcc>Ccc	p.S905P	MUC4_ENST00000475231.1_Missense_Mutation_p.S905P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	910	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCATCCGGGAAATGGCGGCT	0.602000													14	19					0	0	0.00074312	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726061	53726061	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:53726061G>A	ENST00000262135.4	-	4	539	c.446C>T	c.(445-447)cCa>cTa	p.P149L	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P149L|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.P149L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P149L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	149					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATTATTGTATGGAGTTTGCCT	0.393000													202	350					0	0	0.000781405	0	0
C16orf71	146562	broad.mit.edu	37	16	4797551	4797551	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:4797551G>C	ENST00000299320.5	+	9	1966	c.1488G>C	c.(1486-1488)agG>agC	p.R496S	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.R513S	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	496										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAAGAGGCAGGCCCAGAGCCC	0.632000													6	5					0	0	0.00116845	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:140481411C>T	ENST00000288602.6	-	11	1457	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	47					0	0	0.000814825	0	0
ZNF202	7753	broad.mit.edu	37	11	123601466	123601466	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:123601466G>A	ENST00000336139.4	-	3	493	c.131C>T	c.(130-132)aCc>aTc	p.T44I	ZNF202_ENST00000530393.1_Missense_Mutation_p.T44I|ZNF202_ENST00000529691.1_Missense_Mutation_p.T44I			O95125	ZN202_HUMAN	zinc finger protein 202	44					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGGTGGGAGGTTTCCAGCAC	0.532000													25	12					0	0	0.000586117	0	0
MAST2	23139	broad.mit.edu	37	1	46499889	46499889	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:46499889C>T	ENST00000361297.2	+	28	4102	c.3819C>T	c.(3817-3819)ccC>ccT	p.P1273P	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Silent_p.P1180P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1273					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCCTTTCCCCCCGATCTCCCA	0.602000													15	13					0	0	0.000308642	0	0
ARMC4	55130	broad.mit.edu	37	10	28224036	28224036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:28224036G>A	ENST00000305242.5	-	16	2490	c.2398C>T	c.(2398-2400)Caa>Taa	p.Q800*	ARMC4_ENST00000545014.1_Nonsense_Mutation_p.Q325*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q492*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	800							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAAGTGGTTGAATGCCACCA	0.448000													22	26					0	0	0.00047179	0	0
GBE1	2632	broad.mit.edu	37	3	81699050	81699050	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:81699050C>T	ENST00000429644.2	-	4	1095	c.452G>A	c.(451-453)gGa>gAa	p.G151E	GBE1_ENST00000489715.1_Missense_Mutation_p.G110E	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	151					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAAGATCTCTCCGCTTTTACT	0.363000									Glycogen Storage Disease, type IV				22	15					0	0	0.000295444	0	0
TTN	7273	broad.mit.edu	37	2	179592048	179592048	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179592048C>T	ENST00000589042.1	-	69	20268	c.20044G>A	c.(20044-20046)Ggt>Agt	p.G6682S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6365S|TTN_ENST00000342992.6_Missense_Mutation_p.G5438S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6365	Ig-like 48.						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)			GAAGAGTCACCTGCTTTCACA	0.403000													5	1					0	0	0.00116845	0	0
HEATR2	54919	broad.mit.edu	37	7	780537	780537	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:780537C>T	ENST00000297440.6	+	3	882	c.862C>T	c.(862-864)Cct>Tct	p.P288S	HEATR2_ENST00000313147.5_Missense_Mutation_p.P288S|HEATR2_ENST00000438961.1_3'UTR	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	288							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAAGCTCATCCCTCTGCTGCT	0.642000													53	66					0	0	0.000781405	0	0
OR2B11	127623	broad.mit.edu	37	1	247614625	247614625	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247614625G>A	ENST00000318749.6	-	1	683	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCCATAGGAGAGAAGGATGA	0.577000													22	56					0	0	0.00188189	0	0
ABAT	18	broad.mit.edu	37	16	8868910	8868910	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:8868910A>T	ENST00000396600.2	+	13	2056	c.1118A>T	c.(1117-1119)aAt>aTt	p.N373I	ABAT_ENST00000425191.2_Missense_Mutation_p.N373I|ABAT_ENST00000569156.1_Missense_Mutation_p.N373I|ABAT_ENST00000268251.8_Missense_Mutation_p.N373I|ABAT_ENST00000567812.1_Missense_Mutation_p.N388I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	373					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTCAGGCCTAATGCTGTGAGT	0.552000													31	32					0	0	0.000409698	0	0
ARSE	415	broad.mit.edu	37	X	2873470	2873470	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:2873470G>A	ENST00000545496.1	-	5	660	c.369C>T	c.(367-369)taC>taT	p.Y123Y	ARSE_ENST00000381134.3_Silent_p.Y98Y|ARSE_ENST00000540563.1_Silent_p.Y53Y			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	98					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				ATCGCACAGGGTATCTGCCCG	0.498000													10	3					0	0	0.000442599	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149214869	149214869	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:149214869C>T	ENST00000309241.5	+	7	1780	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P583L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P519L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P544L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	583					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCAGCGACCCAACTTTTGGC	0.582000													35	89					0	0	0.00128727	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758725	62758725	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:62758725C>T	ENST00000331425.6	-	0	152					NR_003952.1																						CATTGCCATTCCTCCAGAGAG	0.418000													14	15					0	0	0.000422831	0	0
DFNA5	1687	broad.mit.edu	37	7	24747848	24747848	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:24747848G>A	ENST00000545231.1	-	9	1546	c.396C>T	c.(394-396)ttC>ttT	p.F132F	DFNA5_ENST00000409775.3_Silent_p.F296F|DFNA5_ENST00000419307.1_Silent_p.F132F|DFNA5_ENST00000409970.1_Silent_p.F132F|DFNA5_ENST00000342947.3_Silent_p.F296F			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	296					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CAAATGGATGGAAATTCCTCT	0.517000													15	17					0	0	0.000422831	0	0
IFNA5	3442	broad.mit.edu	37	9	21304743	21304743	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:21304743G>A	ENST00000259555.4	-	1	569	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.398000													64	23					0	0	0.000781405	0	0
C20orf24	55969	broad.mit.edu	37	20	35240542	35240542	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35240542C>T	ENST00000342422.3	+	3	478	c.348C>T	c.(346-348)gcC>gcT	p.A116A	C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GAACCCCAGCCCCTTGGAACT	0.498000													92	164					0	0	0.000781405	0	0
ITGAL	3683	broad.mit.edu	37	16	30507449	30507449	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:30507449G>A	ENST00000356798.6	+	14	1715	c.1535G>A	c.(1534-1536)gGg>gAg	p.G512E	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.G429E|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	512					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAGCTGCAGGGGGACCCCGGC	0.577000													40	69					0	0	0.00170553	0	0
HUWE1	10075	broad.mit.edu	37	X	53642793	53642793	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:53642793T>G	ENST00000342160.3	-	21	2418	c.1961A>C	c.(1960-1962)gAt>gCt	p.D654A	HUWE1_ENST00000262854.6_Missense_Mutation_p.D654A|HUWE1_ENST00000218328.8_Missense_Mutation_p.D654A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	654					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGATGCAGTATCCCCTTAAGG	0.418000													8	2					0	0	0.000442599	0	0
JARID2	3720	broad.mit.edu	37	6	15513250	15513250	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:15513250C>T	ENST00000341776.2	+	15	3484	c.3240C>T	c.(3238-3240)acC>acT	p.T1080T	JARID2_ENST00000397311.3_Silent_p.T908T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1080					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTCTCAGTACCATCTCAGCCC	0.572000													29	102					0	0	0.00106085	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894811	139894811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:139894811G>A	ENST00000458420.3	+	2	318	c.128G>A	c.(127-129)tGg>tAg	p.W43*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	43					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAAGCCATGGATCGAGACT	0.353000										HNSCC(16;0.037)			10	4					0	0	0.00136819	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													7	51					0	0	8.12818e-05	0	0
CAMK1D	57118	broad.mit.edu	37	10	12867699	12867699	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:12867699T>G	ENST00000378845.1	+	10	1135	c.1049T>G	c.(1048-1050)gTa>gGa	p.V350G	CAMK1D_ENST00000378847.3_Intron	NM_020397.2	NP_065130.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	0	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGTGCGTATGTAGCAAAACCA	0.542000													61	198					0	0	0.000781405	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156556	6156556	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6156556C>T	ENST00000588304.1	+	5	797	c.351C>T	c.(349-351)atC>atT	p.I117I	ACSBG2_ENST00000586696.1_Silent_p.I167I|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Silent_p.I167I|ACSBG2_ENST00000591403.1_Silent_p.I167I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	167					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGAAAATCCTTTCGGTAA	0.463000													60	79					0	0	0.000781405	0	0
SLC6A12	6539	broad.mit.edu	37	12	319086	319086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:319086C>T	ENST00000428720.1	-	3	810	c.67G>A	c.(67-69)Gag>Aag	p.E23K	SLC6A12_ENST00000424061.2_Missense_Mutation_p.E23K|SLC6A12_ENST00000397296.2_Missense_Mutation_p.E23K|SLC6A12_ENST00000359674.4_Missense_Mutation_p.E23K|SLC6A12_ENST00000536824.1_Missense_Mutation_p.E23K	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	23					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCCAACTTCTCTCCCTCCTCG	0.617000													24	36					0	0	0.000878237	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90077822	90077822	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:90077822C>T	ENST00000390270.2	+	0	143																											ACTCTGGCTCCCAGGTGAGGG	0.517000													25	55					0	0	0.00178596	0	0
ATP9A	10079	broad.mit.edu	37	20	50273534	50273534	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:50273534C>T	ENST00000338821.5	-	14	1713	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	ATP9A_ENST00000311637.5_Silent_p.E347E|ATP9A_ENST00000402822.1_Silent_p.E362E	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	483					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTCTCGGCCTCAGCCTGAT	0.617000													15	17					0	0	0.000308642	0	0
HID1	283987	broad.mit.edu	37	17	72954844	72954844	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:72954844G>A	ENST00000425042.2	-	10	1241	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_030630.2	NP_085133.1			HID1 domain containing																		TCTTCAGCACGAAGAAGAGGA	0.612000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	22					0	0	0.000422831	0	0
CSMD1	64478	broad.mit.edu	37	8	2800094	2800094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:2800094G>A	ENST00000520002.1	-	70	10993	c.10438C>T	c.(10438-10440)Cat>Tat	p.H3480Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.H3479Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H3303Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H3303Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H3302Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H3480Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3480						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTGGTAATGACTGGAAGAG	0.383000													7	8					0	0	8.12818e-05	0	0
DHDH	27294	broad.mit.edu	37	19	49442803	49442803	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49442803G>A	ENST00000221403.2	+	4	504	c.464G>A	c.(463-465)gGg>gAg	p.G155E	DHDH_ENST00000522614.1_Missense_Mutation_p.G155E|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	155					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GCAGAATTTGGGAAGAATCTC	0.627000													29	32					0	0	0.00106085	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:139144923G>A	ENST00000395297.1	-	20	4304	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1378										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)			81	115					0	0	0.000781405	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692895	26692895	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:26692895C>T	ENST00000529632.2	+	4	1207	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	SEZ6L_ENST00000360929.3_Silent_p.I337I|SEZ6L_ENST00000343706.4_Silent_p.I337I|SEZ6L_ENST00000402979.1_Silent_p.I110I|SEZ6L_ENST00000248933.6_Silent_p.I337I|SEZ6L_ENST00000404234.3_Silent_p.I337I|SEZ6L_ENST00000403121.1_Silent_p.I110I	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	337	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTCTCCATCCGCGGGGTGG	0.587000													11	13					0	0	0.000219431	0	0
COL4A4	1286	broad.mit.edu	37	2	227942694	227942694	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:227942694G>A	ENST00000396625.3	-	25	2110	c.1903C>T	c.(1903-1905)Cct>Tct	p.P635S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P635S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	635	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTGGACCAGGAAATCCCAGT	0.587000													20	21					0	0	0.00121646	0	0
HELQ	113510	broad.mit.edu	37	4	84369967	84369967	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:84369967A>G	ENST00000295488.3	-	3	1322	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	HELQ_ENST00000510985.1_Missense_Mutation_p.I387T	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	387	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATATGGAAGAATCATTAAAAC	0.353000								Other identified genes with known or suspected DNA repair function					36	60					0	0	0.00148497	0	0
DNAH5	1767	broad.mit.edu	37	5	13776791	13776791	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:13776791C>T	ENST00000265104.4	-	55	9234	c.9130G>A	c.(9130-9132)Gaa>Aaa	p.E3044K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3044	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATCAATTTCATCTCGAGCA	0.393000									Kartagener syndrome				12	22					0	0	0.00136819	0	0
MAP3K15	389840	broad.mit.edu	37	X	19392708	19392708	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:19392708G>A	ENST00000338883.4	-	20	2659	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F	MAP3K15_ENST00000469203.2_Missense_Mutation_p.S719F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.S322F	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	887	Protein kinase.						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)					CTCGAAACAGGATAAAATGAA	0.512000													27	7					0	0	0.000878237	0	0
ADORA3	140	broad.mit.edu	37	1	112033353	112033353	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:112033353G>A	ENST00000369716.4	-	2	515	c.382C>T	c.(382-384)Cta>Tta	p.L128L	ADORA3_ENST00000369717.4_Silent_p.L47L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	253					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGGAATGATAGAATGCACCCA	0.453000													22	32					0	0	0.000295444	0	0
OR8H3	390152	broad.mit.edu	37	11	55890756	55890756	+	Missense_Mutation	SNP	G	G	T	rs146433594		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55890756G>T	ENST00000313472.3	+	1	908	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCTCTCATTAGAGTCATGCAG	0.358000													11	28					9.04627e-18	5.83769e-17	0.00185496	1	0
UBASH3A	53347	broad.mit.edu	37	21	43838655	43838655	+	Missense_Mutation	SNP	G	G	A	rs149115903		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:43838655G>A	ENST00000319294.6	+	7	1014	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	UBASH3A_ENST00000291535.6_Missense_Mutation_p.R290Q|UBASH3A_ENST00000398367.1_Missense_Mutation_p.R290Q	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	328	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGCTGCCGGGGCTTCCTG	0.617000													19	19					0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:82545171C>T	ENST00000423517.2	-	7	12468	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACATAATTTCGTGGAGTATG	0.408000													7	5					0	0	8.12818e-05	0	0
SCTR	6344	broad.mit.edu	37	2	120223413	120223413	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:120223413G>A	ENST00000019103.5	-	5	722	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	152					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCAGGGAGGAGCTGTAGCC	0.612000													18	42					0	0	0.00074312	0	0
TRPC6	7225	broad.mit.edu	37	11	101374881	101374881	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:101374881C>T	ENST00000344327.3	-	2	1243	c.819G>A	c.(817-819)agG>agA	p.R273R	TRPC6_ENST00000348423.4_Silent_p.R273R|TRPC6_ENST00000532133.1_Silent_p.R273R|TRPC6_ENST00000360497.4_Silent_p.R273R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	273					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGGCATTAATCCTAGATCTGG	0.463000													23	39					0	0	0.000586117	0	0
ARID1A	8289	broad.mit.edu	37	1	27106861	27106861	+	Silent	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:27106861C>A	ENST00000324856.7	+	20	6843	c.6472C>A	c.(6472-6474)Cga>Aga	p.R2158R	ARID1A_ENST00000540690.1_Silent_p.R486R|ARID1A_ENST00000457599.2_Silent_p.R1941R|ARID1A_ENST00000374152.2_Silent_p.R1775R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2158					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R2158*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAGTGACCGAAAGAACCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								30	40					3.99451e-17	2.57395e-16	0.00178596	1	0
HUNK	30811	broad.mit.edu	37	21	33371423	33371423	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:33371423C>T	ENST00000270112.2	+	11	2431	c.2071C>T	c.(2071-2073)Ctg>Ttg	p.L691L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	691					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GGAGGCCAGCCTGCCCCCACT	0.607000													22	40					0	0	0.000375601	0	0
SSPO	23145	broad.mit.edu	37	7	149516409	149516409	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:149516409C>T	ENST00000378016.2	+	0	11812							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCGTGTGCCCTGGCCCTGG	0.687000													13	25					0	0	0.000422831	0	0
MYOM3	127294	broad.mit.edu	37	1	24383924	24383924	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:24383924G>A	ENST00000330966.7	-	37	4415	c.4253C>T	c.(4252-4254)tCc>tTc	p.S1418F	MYOM3_ENST00000338909.5_Missense_Mutation_p.S308F|MYOM3_ENST00000374434.3_Missense_Mutation_p.S1415F|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1415	Ig-like C2-type 4.									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)		GCCCGTCTCGGAGCCATACTT	0.572000													18	28					0	0	0.00152264	0	0
ZNF773	374928	broad.mit.edu	37	19	58017786	58017786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58017786C>T	ENST00000282292.4	+	4	463	c.323C>T	c.(322-324)cCc>cTc	p.P108L	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.P107L|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GTAGAAGTGCCCAGTTCAAAC	0.483000													38	61					0	0	0.000953801	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428488	170428488	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:170428488G>A	ENST00000453153.2	-	2	398	c.52C>T	c.(52-54)Cta>Tta	p.L18L	FASTKD1_ENST00000453929.2_Silent_p.L18L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	18					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ATAGCTCTTAGACGAAGCATA	0.363000													30	36					0	0	0.000409698	0	0
OR2F2	135948	broad.mit.edu	37	7	143633090	143633090	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143633090G>A	ENST00000408955.2	+	1	832	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512000													26	43					0	0	0.00106085	0	0
FAT2	2196	broad.mit.edu	37	5	150946169	150946169	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:150946169G>A	ENST00000261800.5	-	1	2336	c.2324C>T	c.(2323-2325)gCt>gTt	p.A775V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	775	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGGAGCAGCTACAGTGAG	0.502000													22	30					0	0	0.00152264	0	0
CR1L	1379	broad.mit.edu	37	1	207850751	207850751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:207850751G>A	ENST00000508064.2	+	2	175	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	39	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAATGTCCCGGAATGGCTTCC	0.398000													21	70					0	0	0.000295444	0	0
NEK9	91754	broad.mit.edu	37	14	75574166	75574166	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:75574166G>A	ENST00000238616.5	-	11	1365	c.1207C>T	c.(1207-1209)Cat>Tat	p.H403Y		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	403					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGCTGACCATGGAGTTTAGTG	0.398000													27	30					0	0	0.00127121	0	0
PLCH1	23007	broad.mit.edu	37	3	155200384	155200384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:155200384G>A	ENST00000460012.1	-	23	3698	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1152F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1152					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443000													22	30					0	0	0.000375601	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874116	48874116	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:48874116G>A	ENST00000394754.1	+	8	3139	c.3025G>A	c.(3025-3027)Gga>Aga	p.G1009R	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1009R|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G271R|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1009R|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G305R|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G962R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1009R	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		962					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGGATGTATGGATGTGATTC	0.433000													11	19					0	0	0.00185496	0	0
SLC10A3	8273	broad.mit.edu	37	X	153715943	153715943	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:153715943G>A	ENST00000263512.4	-	2	1835	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SLC10A3_ENST00000393587.4_Missense_Mutation_p.S446F|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S417F|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S501F	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	446					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					GGGGGCCTGGGAGGCATAGTC	0.627000													24	8					0	0	0.000720815	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588217	118588217	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:118588217C>T	ENST00000360388.4	+	4	738	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	179					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCCTGCTGATCCGGTACAAGG	0.517000													60	21					0	0	0.000781405	0	0
ZP2	7783	broad.mit.edu	37	16	21214493	21214493	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:21214493G>A	ENST00000574002.1	-	11	1534	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	ZP2_ENST00000219593.4_Missense_Mutation_p.S351F|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.S351F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	351					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GATCACCATGGATACTGTCTC	0.403000													16	27					0	0	0.00074312	0	0
MYO3A	53904	broad.mit.edu	37	10	26459434	26459434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:26459434G>A	ENST00000265944.5	+	29	3530	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1122					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCTGATCAGGAATTCGACTA	0.338000													9	14					0	0	0.000442599	0	0
CCDC178	374864	broad.mit.edu	37	18	30926193	30926193	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:30926193G>A	ENST00000383096.3	-	9	822	c.640C>T	c.(640-642)Cca>Tca	p.P214S	CCDC178_ENST00000300227.8_Missense_Mutation_p.P214S|CCDC178_ENST00000579947.1_Missense_Mutation_p.P214S|CCDC178_ENST00000583930.1_Missense_Mutation_p.P214S|CCDC178_ENST00000403303.1_Missense_Mutation_p.P214S|CCDC178_ENST00000402325.1_Missense_Mutation_p.P214S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.P214S					coiled-coil domain containing 178									p.P214S(2)									ACAGCCAATGGGAGTTCTTGA	0.348000													22	41					0	0	0.000375601	0	0
SPNS3	201305	broad.mit.edu	37	17	4391183	4391183	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:4391183G>A	ENST00000355530.2	+	12	1813	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	SPNS3_ENST00000333476.2_Silent_p.E384E	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	511					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTACAGAGGAGCCCTGAGGTC	0.627000													16	22					0	0	0.00074312	0	0
ADCY8	114	broad.mit.edu	37	8	131916068	131916068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:131916068C>T	ENST00000286355.5	-	7	3953	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R	ADCY8_ENST00000377928.3_Missense_Mutation_p.G621R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	621					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)			CTCCAGGATCCTTCAGTGAAT	0.517000										HNSCC(32;0.087)			18	23					0	0	0.00074312	0	0
HAO1	54363	broad.mit.edu	37	20	7866213	7866213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:7866213G>A	ENST00000378789.3	-	7	1048	c.997C>T	c.(997-999)Ctc>Ttc	p.L333F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	333	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGTATCTCGAGGACATCTTGA	0.373000													5	7					0	0	0.000157383	0	0
OR4K2	390431	broad.mit.edu	37	14	20344554	20344554	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20344554G>A	ENST00000298642.2	+	1	164	c.128G>A	c.(127-129)aGc>aAc	p.S43N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGGTAACAGCCTCATAGTC	0.398000													43	138					0	0	0.000437636	0	0
USP19	10869	broad.mit.edu	37	3	49149058	49149058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:49149058C>T	ENST00000453664.1	-	21	3374	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q	USP19_ENST00000434032.2_Missense_Mutation_p.R1029Q|USP19_ENST00000417901.1_Missense_Mutation_p.R1031Q|USP19_ENST00000398888.2_Missense_Mutation_p.R928Q|USP19_ENST00000398892.3_Missense_Mutation_p.R968Q|USP19_ENST00000398896.1_Missense_Mutation_p.R736Q|USP19_ENST00000398898.2_Missense_Mutation_p.R968Q	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	928					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCCACACCCGGGGAAGCCC	0.642000													15	22					0	0	0.000566183	0	0
FBXW7	55294	broad.mit.edu	37	4	153268087	153268087	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:153268087A>G	ENST00000281708.4	-	4	1950	c.721T>C	c.(721-723)Ttt>Ctt	p.F241L	FBXW7_ENST00000603548.1_Missense_Mutation_p.F241L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F65L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F161L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F123L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F241L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	241					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCACCTGAAACATTTTTAGC	0.428000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								15	29					0	0	0.000422831	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131797938	131797938	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:131797938C>T	ENST00000392953.3	+	8	1548	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.F343F|ARHGEF4_ENST00000525839.1_Silent_p.F343F|ARHGEF4_ENST00000355771.3_Silent_p.F272F|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	343	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGAAGGCCTTCGTGAAGGCCC	0.657000													7	5					0	0	0.000157383	0	0
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:22952122G>A	ENST00000397104.3	-	2	70	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S3L					zinc finger protein 99									p.S24W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATGTCAACGATCCCTGAAA	0.388000													23	34					0	0	0.00047179	0	0
CSDE1	7812	broad.mit.edu	37	1	115268872	115268872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:115268872C>T	ENST00000438362.2	-	14	2116	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	CSDE1_ENST00000534699.1_Missense_Mutation_p.E534K|CSDE1_ENST00000530886.1_Missense_Mutation_p.E404K|CSDE1_ENST00000261443.5_Missense_Mutation_p.E503K|CSDE1_ENST00000369530.1_Missense_Mutation_p.E549K|CSDE1_ENST00000358528.4_Missense_Mutation_p.E534K|CSDE1_ENST00000339438.6_Missense_Mutation_p.E503K	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	534					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGCTGTTTCAATAAATCCA	0.398000													13	17					0	0	0.00185496	0	0
CERS1	10715	broad.mit.edu	37	19	18994943	18994943	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:18994943G>A	ENST00000427170.2	-	3	614	c.543C>T	c.(541-543)ctC>ctT	p.L181L	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_Silent_p.L181L|CERS1_ENST00000542296.2_Silent_p.L83L	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	181	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						CCACGTGGTGGAGCAGCATGA	0.612000													7	14					0	0	0.000157383	0	0
PTPRJ	5795	broad.mit.edu	37	11	48177548	48177548	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:48177548C>T	ENST00000418331.2	+	21	3667	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1105	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTACCACTCCAAGAAAGATT	0.393000													45	76					0	0	0.000781405	0	0
XKR5	389610	broad.mit.edu	37	8	6690262	6690262	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:6690262G>A	ENST00000518724.1	-	0	369							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAAGCTGTAGGAGGTGCAGCA	0.552000													34	49					0	0	0.00170553	0	0
CDH16	1014	broad.mit.edu	37	16	66951570	66951570	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66951570C>T	ENST00000299752.4	-	3	297	c.104G>A	c.(103-105)gGa>gAa	p.G35E	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000565796.1_Missense_Mutation_p.G35E|CDH16_ENST00000394055.3_Missense_Mutation_p.G35E|CDH16_ENST00000568632.1_Missense_Mutation_p.G35E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	35	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGAAATTTCCACCATAGTT	0.582000													11	13					0	0	0.000219431	0	0
IFT88	8100	broad.mit.edu	37	13	21179174	21179174	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:21179174G>A	ENST00000382778.4	+	14	2187	c.1068_splice	c.e14-1	p.D357_splice	IFT88_ENST00000319980.6_Splice_Site_p.D357_splice|IFT88_ENST00000351808.5_Splice_Site_p.D348_splice|IFT88_ENST00000537103.1_Splice_Site_p.D329_splice			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	357					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATTTTACCAGGATGATCCTCA	0.289000													14	24					0	0	0.000308642	0	0
SFTPD	6441	broad.mit.edu	37	10	81701243	81701243	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:81701243C>T	ENST00000372292.3	-	6	618	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	193	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTGGACTTCCCTGGGGACC	0.507000													15	43					0	0	0.000958276	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602208	138602208	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:138602208A>C	ENST00000440172.1	-	2	2212	c.2164T>G	c.(2164-2166)Ttc>Gtc	p.F722V	KIAA1549_ENST00000422774.1_Missense_Mutation_p.F722V|KIAA1549_ENST00000242365.4_Missense_Mutation_p.F672V	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	722	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAGAAGGGAAGCTTGACCAT	0.463000			O	BRAF	pilocytic astrocytoma								39	54					0	0	0.00111076	0	0
RBM12	10137	broad.mit.edu	37	20	34240927	34240927	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:34240927C>T	ENST00000374114.3	-	3	2581	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	RBM12_ENST00000359646.1_Missense_Mutation_p.G773E|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G773E|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	773	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGGTCCACCTCCAAAACCCGG	0.557000													33	55					0	0	0.000692331	0	0
NF1	4763	broad.mit.edu	37	17	29486027	29486027	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:29486027G>A	ENST00000358273.4	+	3	587		c.e3-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTCTGTTAGAGAATATTTG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			16	41					0	0	0.000422831	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102371	44102371	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:44102371G>A	ENST00000259746.9	+	2	233	c.50G>A	c.(49-51)aGc>aAc	p.S17N	TMEM63B_ENST00000323267.6_Missense_Mutation_p.S17N			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	17						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCAACAACAGCAACCCCAAG	0.647000													16	37					0	0	0.00074312	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6043934	6043934	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:6043934C>T	ENST00000409021.3	-	17	2498	c.2049G>A	c.(2047-2049)ggG>ggA	p.G683G	JAKMIP1_ENST00000409371.3_Silent_p.G498G	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	454					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGCCTCGGTCCCCTCTATTT	0.557000													33	44					0	0	0.000692331	0	0
IL1A	3552	broad.mit.edu	37	2	113535611	113535611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:113535611G>A	ENST00000263339.3	-	6	723	c.568C>T	c.(568-570)Caa>Taa	p.Q190*		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	190					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						ACATACAATTGAGTTTTTGAG	0.378000													19	31					0	0	0.00121646	0	0
STARD13	90627	broad.mit.edu	37	13	33703582	33703582	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:33703582G>A	ENST00000336934.5	-	5	1348	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	STARD13_ENST00000399365.3_Missense_Mutation_p.S293F|STARD13_ENST00000255486.4_Missense_Mutation_p.S403F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	411					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTTTCAATAGAAAGTGCCTT	0.527000													22	27					0	0	0.00188189	0	0
LRFN5	145581	broad.mit.edu	37	14	42356439	42356439	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:42356439C>T	ENST00000554171.1	+	5	3043	c.611C>T	c.(610-612)tCa>tTa	p.S204L	LRFN5_ENST00000554120.1_Missense_Mutation_p.S204L|LRFN5_ENST00000298119.4_Missense_Mutation_p.S204L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	204						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATGTGACATCAAATAAATTG	0.418000										HNSCC(30;0.082)			15	20					0	0	0.000219431	0	0
P4HA2	8974	broad.mit.edu	37	5	131546162	131546162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:131546162G>A	ENST00000401867.1	-	7	1092	c.524C>T	c.(523-525)tCg>tTg	p.S175L	P4HA2_ENST00000379104.2_Missense_Mutation_p.S175L|P4HA2_ENST00000360568.3_Missense_Mutation_p.S175L|P4HA2_ENST00000166534.4_Missense_Mutation_p.S175L|P4HA2_ENST00000379086.1_Missense_Mutation_p.S175L|P4HA2_ENST00000379100.2_Missense_Mutation_p.S175L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	175						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTGTAGGCCGAGCGGCCCAT	0.537000													117	129					0	0	0.000781405	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254924	24254924	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:24254924G>A	ENST00000538205.1	+	7	892	c.345G>A	c.(343-345)ggG>ggA	p.G115G	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.G194G|ADAMDEC1_ENST00000522298.1_Silent_p.G115G|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	194					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCACTGACGGGAAACAAGGCC	0.448000													18	32					0	0	0.00152264	0	0
IFT172	26160	broad.mit.edu	37	2	27700945	27700945	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27700945T>C	ENST00000260570.3	-	11	1187	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V	IFT172_ENST00000416524.2_Missense_Mutation_p.I341V|IFT172_ENST00000359466.6_Missense_Mutation_p.I362V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	362					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTTCCTAGGATTTTCACCTCT	0.478000													67	78					0	0	0.000781405	0	0
AHSP	51327	broad.mit.edu	37	16	31539891	31539891	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:31539891G>A	ENST00000302312.4	+	3	291	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	63					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCCCAAGAGCGAGACAAGGCT	0.547000													30	36					0	0	0.000409698	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881996	15881996	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15881996G>A	ENST00000587443.2	-	0	901					NR_033864.1																						TGTGCTGGAGGATATGCTGGT	0.552000													24	31					0	0	0.000586117	0	0
MTMR6	9107	broad.mit.edu	37	13	25826045	25826045	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:25826045G>A	ENST00000381801.5	-	12	2185	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	MTMR6_ENST00000540661.1_Missense_Mutation_p.S475F	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	475	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S475F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTGAGATTCGGAACTGTAGAG	0.328000													107	121					0	0	0.000781405	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860833	96860833	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:96860833A>G	ENST00000375360.3	+	7	2163	c.1823A>G	c.(1822-1824)gAa>gGa	p.E608G	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E660G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	608							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GAAAAGGAGGAACTAAAAAGG	0.363000													31	10					0	0	0.000409698	0	0
PTPN5	84867	broad.mit.edu	37	11	18763942	18763942	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:18763942C>T	ENST00000396170.1	-	7	1760	c.496G>A	c.(496-498)Gag>Aag	p.E166K	PTPN5_ENST00000477854.1_Missense_Mutation_p.E2K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E198K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.E166K|PTPN5_ENST00000396168.1_Missense_Mutation_p.E174K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E198K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	198						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ATCTTCTCCTCCATCCACTCT	0.622000													36	8					0	0	0.000491102	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725993	168725993	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:168725993C>T	ENST00000305861.1	+	2	795	c.444C>T	c.(442-444)tcC>tcT	p.S148S	B3GALT1_ENST00000392690.2_Silent_p.S148S|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	148					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTATTGACTCCTACCATAACC	0.433000													18	29					0	0	0.00121646	0	0
FES	2242	broad.mit.edu	37	15	91435974	91435974	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:91435974C>T	ENST00000328850.3	+	14	1887	c.1745C>T	c.(1744-1746)gCc>gTc	p.A582V	FES_ENST00000394300.3_Missense_Mutation_p.A524V|FES_ENST00000414248.2_Missense_Mutation_p.A454V|FES_ENST00000450438.2_Missense_Mutation_p.A454V|FES_ENST00000444422.2_Missense_Mutation_p.A512V|FES_ENST00000394302.1_Missense_Mutation_p.A454V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	582	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGCCTGCGAGCCGACAACACC	0.577000													99	167					0	0	0.000781405	0	0
ZNF83	55769	broad.mit.edu	37	19	53116680	53116680	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53116680T>C	ENST00000597597.1	-	2	3391	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	ZNF83_ENST00000544146.1_Missense_Mutation_p.K380E|ZNF83_ENST00000541777.2_Missense_Mutation_p.K380E|ZNF83_ENST00000391789.4_Missense_Mutation_p.K352E|ZNF83_ENST00000536937.1_Missense_Mutation_p.K380E|ZNF83_ENST00000545872.1_Missense_Mutation_p.K380E|ZNF83_ENST00000301096.3_Missense_Mutation_p.K380E|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTGAATGCTTTGTCACATTCA	0.383000													28	46					0	0	0.000339439	0	0
FAT2	2196	broad.mit.edu	37	5	150924933	150924933	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:150924933G>A	ENST00000261800.5	-	9	5767	c.5755C>T	c.(5755-5757)Cat>Tat	p.H1919Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1919					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACAGGATGGATGGTAACA	0.502000													43	42					0	0	0.000781405	0	0
FAM209B	388799	broad.mit.edu	37	20	55111285	55111285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:55111285C>T	ENST00000371325.1	+	2	403	c.307C>T	c.(307-309)Caa>Taa	p.Q103*		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	103						integral to membrane											AAAGAAAAATCAAAATGCTTC	0.398000													35	56					0	0	0.000692331	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603468	138603468	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:138603468G>A	ENST00000440172.1	-	2	952	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P302S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P252S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	302						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCCAAGGAGGGCAACGGTATA	0.522000			O	BRAF	pilocytic astrocytoma								16	34					0	0	0.000308642	0	0
SPTA1	6708	broad.mit.edu	37	1	158609699	158609699	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158609699G>A	ENST00000368148.3	-	34	5016	c.4836C>T	c.(4834-4836)ttC>ttT	p.F1612F	SPTA1_ENST00000368147.3_Silent_p.F1612F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1612					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTTGTGTTGAACCTCTGTT	0.453000													36	25					0	0	0.000814825	0	0
MATR3	9782	broad.mit.edu	37	5	138661307	138661307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:138661307C>T	ENST00000394800.2	+	17	3020	c.2471C>T	c.(2470-2472)cCa>cTa	p.P824L	MATR3_ENST00000504203.1_Missense_Mutation_p.P438L|MATR3_ENST00000394805.3_Missense_Mutation_p.P776L|MATR3_ENST00000509990.1_Missense_Mutation_p.P776L|MATR3_ENST00000510056.1_Missense_Mutation_p.P776L|MATR3_ENST00000361059.2_Missense_Mutation_p.P776L|MATR3_ENST00000502499.1_Missense_Mutation_p.P438L|MATR3_ENST00000502929.1_Missense_Mutation_p.P824L|MATR3_ENST00000503811.1_Missense_Mutation_p.P488L			P43243	MATR3_HUMAN	matrin 3	776						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATACAATCCCAGATGAGTAT	0.418000													28	32					0	0	0.00178596	0	0
SEPN1	57190	broad.mit.edu	37	1	26135082	26135082	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:26135082C>T	ENST00000361547.2	+	5	604	c.549C>T	c.(547-549)ctC>ctT	p.L183L	SEPN1_ENST00000354177.4_Silent_p.L149L|SEPN1_ENST00000374315.1_Silent_p.L149L	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	183						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCCGCCTCGCCCTGTCCG	0.662000													32	70					0	0	0.000491102	0	0
FOXN3	1112	broad.mit.edu	37	14	89878539	89878539	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:89878539G>A	ENST00000345097.4	-	2	398	c.282C>T	c.(280-282)acC>acT	p.T94T	FOXN3_ENST00000557258.1_Silent_p.T94T|FOXN3_ENST00000555353.1_Silent_p.T94T|FOXN3_ENST00000261302.5_Silent_p.T94T	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	94					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGATGGGGGGGTGTCATCGT	0.592000													26	31					0	0	0.000878237	0	0
BMP1	649	broad.mit.edu	37	8	22052092	22052092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:22052092C>T	ENST00000306385.5	+	11	2102	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	BMP1_ENST00000397816.3_Nonsense_Mutation_p.Q478*|BMP1_ENST00000397814.3_Nonsense_Mutation_p.Q478*|BMP1_ENST00000306349.8_Nonsense_Mutation_p.Q478*|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	478	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTCACATTCCAGTCCTTTGA	0.582000													26	39					0	0	0.00178596	0	0
COL7A1	1294	broad.mit.edu	37	3	48626411	48626411	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:48626411G>A	ENST00000328333.8	-	18	2439	c.2332C>T	c.(2332-2334)Cgt>Tgt	p.R778C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R778C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	778	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGACACACGACCCACAGGC	0.602000													29	53					0	0	0.000409698	0	0
IGSF10	285313	broad.mit.edu	37	3	151160963	151160963	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:151160963A>G	ENST00000282466.3	-	5	5771	c.5772T>C	c.(5770-5772)ggT>ggC	p.G1924G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1924	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCGCTCCGAACCAGTGGAAC	0.443000													28	57					0	0	0.000409698	0	0
RP1	6101	broad.mit.edu	37	8	55541024	55541024	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:55541024A>T	ENST00000220676.1	+	4	4730	c.4582A>T	c.(4582-4584)Atc>Ttc	p.I1528F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1528					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATGAAATAATCAGTAAGAG	0.328000													14	13					0	0	0.000308642	0	0
FADS2	9415	broad.mit.edu	37	11	61631244	61631244	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:61631244C>T	ENST00000278840.4	+	10	1773	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	FADS2_ENST00000521849.1_Silent_p.F381F|FADS2_ENST00000522056.1_Silent_p.F350F|FADS2_ENST00000257261.6_Silent_p.F359F	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	381				NF -> SL (in Ref. 4; BAB55167).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTTAACTTCCAGATTGAGC	0.602000													10	19					0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179526509	179526509	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179526509T>C	ENST00000589042.1	-	180	37486	c.37262A>G	c.(37261-37263)aAg>aGg	p.K12421R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10611							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)			GACTTCAGGCTTTTTAGGAGG	0.378000													11	19					0	0	0.00136819	0	0
CDH16	1014	broad.mit.edu	37	16	66944275	66944275	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66944275G>A	ENST00000299752.4	-	15	2248	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	CDH16_ENST00000570262.1_Silent_p.I605I|CDH16_ENST00000565796.1_Silent_p.I646I|CDH16_ENST00000394055.3_Silent_p.I663I|CDH16_ENST00000568632.1_Silent_p.I588I	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	685	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCCACTCACGATCAAGCCAT	0.637000													29	56					0	0	0.000491102	0	0
CREBZF	58487	broad.mit.edu	37	11	85375599	85375599	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:85375599C>T	ENST00000527447.1	-	1	547	c.321G>A	c.(319-321)ctG>ctA	p.L107L	CREBZF_ENST00000398294.2_Silent_p.L25L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	107					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GGAGATCCGCCAGTTCCAGCC	0.697000													47	50					0	0	0.000781405	0	0
CD8B	926	broad.mit.edu	37	2	87085475	87085475	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:87085475C>T	ENST00000390655.6	-	2	166	c.108G>A	c.(106-108)atG>atA	p.M36I	CD8B_ENST00000349455.3_Missense_Mutation_p.M36I|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.M36I|CD8B_ENST00000393759.2_Missense_Mutation_p.M36I|CD8B_ENST00000393761.2_Missense_Mutation_p.M36I	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	36	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCATCACCATCTTGTTGG	0.512000													29	42					0	0	0.000692331	0	0
AMY2A	279	broad.mit.edu	37	1	104160630	104160630	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:104160630G>A	ENST00000414303.2	+	2	287	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	75					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ACCTTGGTGGGAAAGATACCA	0.358000													48	60					0	0	0.000781405	0	0
EPN1	29924	broad.mit.edu	37	19	56206167	56206167	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:56206167C>T	ENST00000411543.2	+	10	2145	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	EPN1_ENST00000270460.6_Missense_Mutation_p.S447F|EPN1_ENST00000085079.7_Missense_Mutation_p.S421F	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	447	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GTCAGGGGATCTCTGGCTGAG	0.687000													10	20					0	0	0.000673444	0	0
TYRO3	7301	broad.mit.edu	37	15	41870298	41870298	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:41870298G>A	ENST00000263798.3	+	19	2721	c.2497G>A	c.(2497-2499)Gat>Aat	p.D833N	TYRO3_ENST00000559066.1_Missense_Mutation_p.D788N	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	833						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGGGCTGGGGATGGCAGTGG	0.647000													8	20					0	0	0.000274275	0	0
FRRS1	391059	broad.mit.edu	37	1	100212969	100212969	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:100212969G>A	ENST00000414213.1	-	4	815	c.214C>T	c.(214-216)Cca>Tca	p.P72S	FRRS1_ENST00000287474.5_Missense_Mutation_p.P72S			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	72	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CCTTTAAATGGATGCCCTGAC	0.368000													56	68					0	0	0.000781405	0	0
NBR1	4077	broad.mit.edu	37	17	41343492	41343492	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:41343492C>T	ENST00000422280.1	+	10	1426	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	NBR1_ENST00000542611.1_Missense_Mutation_p.L302F|NBR1_ENST00000590996.1_Missense_Mutation_p.L323F|NBR1_ENST00000589872.1_Missense_Mutation_p.L323F|NBR1_ENST00000389312.4_Missense_Mutation_p.L323F|NBR1_ENST00000341165.6_Missense_Mutation_p.L323F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	323					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TAAAAAGCAGCTTAAACTCCA	0.438000													10	12					0	0	0.000673444	0	0
PSG1	5669	broad.mit.edu	37	19	43376041	43376041	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43376041G>A	ENST00000244296.2	-	3	724	c.587C>T	c.(586-588)tCc>tTc	p.S196F	PSG1_ENST00000312439.6_Missense_Mutation_p.S196F|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.S196F|PSG1_ENST00000436291.2_Missense_Mutation_p.S196F	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTTGGTTTCGGACAGCTTCAA	0.522000													82	102					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41465764	41465764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41465764G>A	ENST00000400454.1	-	21	4211	c.3734C>T	c.(3733-3735)tCc>tTc	p.S1245F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1245	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S1245F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATTCTGTAGGAAAACGAGTC	0.483000													5	17					0	0	0.000602214	0	0
ABCA11P	79963	broad.mit.edu	37	4	420088	420088	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:420088G>A	ENST00000451020.2	-	0	950					NR_002451.2																						TGAACAGCTCGTCTAGAAGCA	0.527000													15	17					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179638821	179638821	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179638821G>A	ENST00000589042.1	-	31	7298	c.7074C>T	c.(7072-7074)atC>atT	p.I2358I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I2312I|TTN_ENST00000342175.6_Silent_p.I2312I|TTN_ENST00000360870.5_Silent_p.I2358I|TTN_ENST00000460472.2_Silent_p.I2312I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Silent_p.I2358I|TTN_ENST00000342992.6_Silent_p.I2358I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2080	Ig-like 13.						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)			GTCCTTGTAGGATAGCAATGG	0.423000													12	33					0	0	0.000308642	0	0
MGAM	8972	broad.mit.edu	37	7	141765211	141765211	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:141765211G>A	ENST00000475668.2	+	38	4615	c.4561G>A	c.(4561-4563)Gga>Aga	p.G1521R	MGAM_ENST00000549489.2_Missense_Mutation_p.G1521R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1521	Glucoamylase.				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)	CCGCTGGGCAGGACATTGGCT	0.622000													4	2					0	0	0.00116845	0	0
FBN2	2201	broad.mit.edu	37	5	127624855	127624855	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:127624855C>A	ENST00000508053.1	-	58	7575	c.6601G>T	c.(6601-6603)Ggc>Tgc	p.G2201C	FBN2_ENST00000262464.4_Missense_Mutation_p.G2201C			P35556	FBN2_HUMAN	fibrillin 2	2201	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTTGTAGCCCATTGGACAT	0.403000													23	33					6.32553e-13	4.06115e-12	0.000720815	1	0
C8orf82	414919	broad.mit.edu	37	8	145753065	145753065	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:145753065G>A	ENST00000524821.1	-	3	527	c.312C>T	c.(310-312)ttC>ttT	p.F104F	C8orf82_ENST00000313465.5_3'UTR			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	104										endometrium(1)|urinary_tract(1)	2						CGCAGCGCAGGAAGTTGCGCT	0.706000													5	2					0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55541533	55541533	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:55541533G>A	ENST00000220676.1	+	4	5239	c.5091G>A	c.(5089-5091)caG>caA	p.Q1697Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1697					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGAATTCCAGGAGGAAAGAC	0.403000													27	49					0	0	0.00127121	0	0
LSAMP	4045	broad.mit.edu	37	3	115561418	115561418	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:115561418G>A	ENST00000490035.1	-	5	1156	c.657C>T	c.(655-657)ccC>ccT	p.P219P	LSAMP_ENST00000539563.1_Silent_p.P216P|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	219	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGTGATAGTGGGAGGATCTG	0.488000													30	32					0	0	0.00111076	0	0
KLHL14	57565	broad.mit.edu	37	18	30257204	30257204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:30257204G>A	ENST00000359358.4	-	8	2116	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	560						cytosol|endoplasmic reticulum membrane		p.R560*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCACTTCGACCCTCCAAA	0.478000													20	22					0	0	0.000958276	0	0
EVX2	344191	broad.mit.edu	37	2	176948122	176948122	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:176948122G>A	ENST00000308618.4	-	1	519	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAGGCCCCCGGGGGAGCGAAG	0.687000													6	13					0	0	8.12818e-05	0	0
NUTM1	256646	broad.mit.edu	37	15	34647860	34647860	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:34647860C>T	ENST00000537011.1	+	8	2033	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	NUTM1_ENST00000438749.3_Missense_Mutation_p.L541F|NUTM1_ENST00000333756.4_Missense_Mutation_p.L523F					NUT midline carcinoma, family member 1																		CGCCGCTTGCCTTGGAAAGGT	0.587000													44	52					0	0	0.000781405	0	0
COL16A1	1307	broad.mit.edu	37	1	32167755	32167755	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:32167755G>A	ENST00000373672.3	-	2	556	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	COL16A1_ENST00000271069.6_Missense_Mutation_p.L14F|COL16A1_ENST00000373668.3_Missense_Mutation_p.L14F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	14					cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTAGCCCAAAGACCGAGCAGC	0.592000													26	24					0	0	0.00127121	0	0
MS4A4A	51338	broad.mit.edu	37	11	60068515	60068515	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:60068515A>G	ENST00000355131.3	+	5	538	c.315A>G	c.(313-315)agA>agG	p.R105R	MS4A4A_ENST00000532114.1_Silent_p.R124R|MS4A4A_ENST00000337908.4_Silent_p.R124R|MS4A4A_ENST00000395016.3_Silent_p.R105R	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	124						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAGGAATTAGAACTACAAAAG	0.313000													20	23					0	0	0.000295444	0	0
FOXN3	1112	broad.mit.edu	37	14	89629234	89629234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:89629234C>T	ENST00000345097.4	-	7	1113	c.997G>A	c.(997-999)Gag>Aag	p.E333K	FOXN3_ENST00000557258.1_Missense_Mutation_p.E311K|FOXN3_ENST00000555353.1_Missense_Mutation_p.E311K|FOXN3_ENST00000261302.5_Missense_Mutation_p.E333K	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	333					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTGATCCTCCTTGGGGTCT	0.627000													8	16					0	0	0.000274275	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768519	13768519	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:13768519T>C	ENST00000279593.3	-	6	1617	c.1408A>G	c.(1408-1410)Aaa>Gaa	p.K470E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	470					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCACAGATTTAGAAATTTTC	0.398000													145	27					0	0	0.000781405	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291569	141291569	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:141291569C>T	ENST00000247452.3	-	3	552	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	69	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCTCCTCCTCCTCAGGA	0.537000										HNSCC(46;0.14)			27	1					0	0	0.000586117	0	0
USP6	9098	broad.mit.edu	37	17	5058756	5058756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:5058756C>T	ENST00000574788.1	+	31	4913	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	USP6_ENST00000250066.6_Missense_Mutation_p.R895C|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R578C			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	895					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAGGAGAATCGCCCCAGCCT	0.458000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								37	55					0	0	0.000509022	0	0
COL4A5	1287	broad.mit.edu	37	X	107834829	107834829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:107834829G>A	ENST00000328300.6	+	21	1622	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G460R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	460	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCCCCCCAGGATCTCCAGG	0.398000									Alport syndrome with Diffuse Leiomyomatosis				42	6					0	0	0.000781405	0	0
MKL1	57591	broad.mit.edu	37	22	40827438	40827438	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:40827438G>A	ENST00000396617.3	-	6	700	c.110C>T	c.(109-111)tCg>tTg	p.S37L	MKL1_ENST00000407029.1_Missense_Mutation_p.S37L|MKL1_ENST00000402630.1_Missense_Mutation_p.S37L|MKL1_ENST00000402042.1_Missense_Mutation_p.S37L|MKL1_ENST00000355630.3_Missense_Mutation_p.S37L			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	37	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GACCAGCTCCGATCTCTCCGG	0.473000			T	RBM15	acute megakaryocytic leukemia								100	131					0	0	0.000781405	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282952	140282952	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:140282952G>A	ENST00000458420.3	+	16	2822	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	878					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACTGGGACGATTCTGCGCT	0.582000										HNSCC(16;0.037)			42	23					0	0	0.000781405	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172218	21172218	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:21172218G>A	ENST00000421593.2	+	2	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTTACTTTGGATCTAAACTA	0.313000													21	6					0	0	0.00152264	0	0
ADRA1A	148	broad.mit.edu	37	8	26721843	26721843	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:26721843C>T	ENST00000380573.3	-	2	1667	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ADRA1A_ENST00000380587.1_Missense_Mutation_p.S215N|ADRA1A_ENST00000380586.1_Missense_Mutation_p.S215N|ADRA1A_ENST00000519229.1_Missense_Mutation_p.S215N|ADRA1A_ENST00000380572.3_Missense_Mutation_p.S215N|ADRA1A_ENST00000358857.5_Missense_Mutation_p.S215N|ADRA1A_ENST00000380581.2_Missense_Mutation_p.S215N|ADRA1A_ENST00000380582.3_Missense_Mutation_p.S215N|ADRA1A_ENST00000354550.4_Missense_Mutation_p.S215N|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S215N			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	215					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GAGGCCCCGGCTCTCCCTCTT	0.637000													9	12					0	0	0.000442599	0	0
PIGO	84720	broad.mit.edu	37	9	35093191	35093191	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:35093191G>T	ENST00000378617.3	-	6	1349	c.955C>A	c.(955-957)Cct>Act	p.P319T	PIGO_ENST00000341666.3_Missense_Mutation_p.P319T|PIGO_ENST00000298004.5_Missense_Mutation_p.P319T|PIGO_ENST00000361778.2_Missense_Mutation_p.P319T	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	319					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAACTTGAGGAATCACCTCT	0.522000													21	4					1.85244e-09	1.18242e-08	0.00047179	1	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:108568024G>A	ENST00000295756.6	+	5	456	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	76					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000													20	33					0	0	0.000375601	0	0
GRID1	2894	broad.mit.edu	37	10	87484319	87484319	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:87484319C>T	ENST00000327946.7	-	11	1733	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	GRID1_ENST00000536331.1_Missense_Mutation_p.E121K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	550						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATTTTCTCCTCGGGCTTC	0.502000										Multiple Myeloma(13;0.14)			19	26					0	0	0.00152264	0	0
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142459835G>A	ENST00000486171.1	+	4	470	c.453G>A	c.(451-453)acG>acA	p.T151T	PRSS1_ENST00000311737.7_Silent_p.T137T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	137	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T137T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACTGGCACGAAGTGCCTCA	0.552000													26	41					0	0	0.00106085	0	0
CLDN11	5010	broad.mit.edu	37	3	170150515	170150515	+	Missense_Mutation	SNP	C	C	T	rs144303681		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:170150515C>T	ENST00000064724.3	+	3	797	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	199				RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCTAGCTCCCCGACTCATGC	0.607000													28	35					0	0	0.000409698	0	0
PPFIA4	8497	broad.mit.edu	37	1	203029523	203029523	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:203029523C>T	ENST00000367240.2	+	21	3226	c.2699C>T	c.(2698-2700)tCt>tTt	p.S900F	PPFIA4_ENST00000295706.4_Missense_Mutation_p.S415F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S415F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S899F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S628F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S415F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	415					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCAGCCCCTCTGCCCCACCC	0.592000													53	37					0	0	0.000781405	0	0
DEFB118	117285	broad.mit.edu	37	20	29960908	29960908	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:29960908G>C	ENST00000253381.2	+	2	340	c.307G>C	c.(307-309)Gtt>Ctt	p.V103L		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	103					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAAAGATATGGTTGAAGAGTC	0.458000													23	39					0	0	0.000586117	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102493981	102493981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:102493981G>A	ENST00000321521.9	+	15	2152	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G527R|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G527R			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	527					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAAGAACTTGGAAGAGCCTT	0.388000													7	15					0	0	8.12818e-05	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605602	159605602	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:159605602G>A	ENST00000337808.6	+	5	1679	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.A417T|SCHIP1_ENST00000482804.1_Missense_Mutation_p.A141T|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.A444T|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.A328T|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.A355T|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.A136T|SCHIP1_ENST00000445224.2_Missense_Mutation_p.A125T	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		368						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GCAAGCTGAAGCCAAAATGGC	0.448000													48	71					0	0	0.000680045	0	0
BICC1	80114	broad.mit.edu	37	10	60562907	60562907	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:60562907C>T	ENST00000373886.3	+	15	2090	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S	BICC1_ENST00000263103.1_Missense_Mutation_p.P322S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	696					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAAGAAGGCTCCAGGGAGTGA	0.532000													13	12					0	0	0.000308642	0	0
ZNF554	115196	broad.mit.edu	37	19	2827625	2827625	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:2827625C>T	ENST00000317243.5	+	3	335	c.137C>T	c.(136-138)aCc>aTc	p.T46I	ZNF554_ENST00000591265.1_Missense_Mutation_p.T46I	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATTAGTAACCTTTGAGGAC	0.537000													27	44					0	0	0.000878237	0	0
TGM7	116179	broad.mit.edu	37	15	43568793	43568793	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:43568793C>T	ENST00000452443.2	-	13	1997	c.1993G>A	c.(1993-1995)Gga>Aga	p.G665R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	665					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGGGTGTGTCCGGCCACCAGA	0.592000													34	56					0	0	0.00170553	0	0
FBXO40	51725	broad.mit.edu	37	3	121342150	121342150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:121342150G>A	ENST00000338040.4	+	3	2288	c.1874G>A	c.(1873-1875)aGg>aAg	p.R625K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	625					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAGAAAAAGAGGTATTCCCAT	0.428000													29	49					0	0	0.001512	0	0
LILRB3	11025	broad.mit.edu	37	19	54725813	54725813	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54725813G>A	ENST00000391750.1	-	5	681	c.545C>T	c.(544-546)cCt>cTt	p.P182L	LILRB3_ENST00000407860.2_Missense_Mutation_p.P182L|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.P182L|LILRB3_ENST00000245620.9_Missense_Mutation_p.P182L|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.P182L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCCACAGGGAACAGGGC	0.592000													8	11					0	0	0.000219431	0	0
EMC1	23065	broad.mit.edu	37	1	19567577	19567577	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:19567577C>T	ENST00000477853.1	-	6	611	c.569G>A	c.(568-570)gGa>gAa	p.G190E	EMC1_ENST00000375208.3_Missense_Mutation_p.G168E|EMC1_ENST00000375199.3_Missense_Mutation_p.G190E	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GGGAACAACTCCGAGGGCCCA	0.507000											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	59					0	0	0.000491102	0	0
BCL11A	53335	broad.mit.edu	37	2	60689430	60689430	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:60689430G>A	ENST00000335712.6	-	4	844	c.617C>T	c.(616-618)cCc>cTc	p.P206L	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.P54L|BCL11A_ENST00000359629.5_Missense_Mutation_p.P206L|BCL11A_ENST00000358510.4_Missense_Mutation_p.P172L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P172L|BCL11A_ENST00000356842.4_Missense_Mutation_p.P206L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	206	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGGGGTCAGGGGACTTCCGTG	0.488000			T	IGH@	B-CLL								172	230					0	0	0.000781405	0	0
MAP1B	4131	broad.mit.edu	37	5	71493252	71493252	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:71493252C>T	ENST00000296755.7	+	5	4368	c.4070C>T	c.(4069-4071)cCa>cTa	p.P1357L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1357						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAACCACCAGCAGTTCCA	0.483000													28	39					0	0	0.001512	0	0
TNKS2	80351	broad.mit.edu	37	10	93582121	93582121	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:93582121T>C	ENST00000371627.4	+	7	1174		c.e7+2			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTGGTCAAGGTTAGTGCTCTT	0.343000													53	70					0	0	0.000781405	0	0
HEATR1	55127	broad.mit.edu	37	1	236761208	236761208	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:236761208G>A	ENST00000366582.3	-	5	687	c.573C>T	c.(571-573)ttC>ttT	p.F191F	HEATR1_ENST00000366581.2_Silent_p.F191F|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	191					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCAAATGAAATCCATGA	0.353000													47	35					0	0	0.000781405	0	0
LIPC	3990	broad.mit.edu	37	15	58855876	58855876	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:58855876C>T	ENST00000414170.3	+	9	1629	c.1342C>T	c.(1342-1344)Ctc>Ttc	p.L448F	LIPC_ENST00000356113.6_Missense_Mutation_p.L448F|LIPC_ENST00000433326.2_Missense_Mutation_p.L387F|LIPC_ENST00000299022.5_Missense_Mutation_p.L448F			P11150	LIPC_HUMAN	lipase, hepatic	448	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCACTCAGGCCTCGTTCTGAA	0.527000													6	14					0	0	0.00116845	0	0
OR5M1	390168	broad.mit.edu	37	11	56380880	56380880	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56380880C>T	ENST00000526538.1	-	1	98	c.99G>A	c.(97-99)gcG>gcA	p.A33A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGGTAGATCGCAAGGAATA	0.493000													14	17					0	0	0.00185496	0	0
DSCAM	1826	broad.mit.edu	37	21	41465660	41465660	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41465660G>A	ENST00000400454.1	-	21	4315	c.3838C>T	c.(3838-3840)Cca>Tca	p.P1280S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1280					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTGCTAGTGGCTCGACTGTG	0.443000													5	8					0	0	0.00116845	0	0
CDCP2	200008	broad.mit.edu	37	1	54610383	54610383	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:54610383C>T	ENST00000371330.1	-	2	1030	c.183G>A	c.(181-183)gtG>gtA	p.V61V	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	61	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCTCGGCCACCACGATCAGCC	0.557000													9	21					0	0	0.000673444	0	0
TENM2	57451	broad.mit.edu	37	5	167626893	167626893	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:167626893C>T	ENST00000519204.1	+	16	2942	c.2824C>T	c.(2824-2826)Cct>Tct	p.P942S	TENM2_ENST00000403607.2_Missense_Mutation_p.P887S|TENM2_ENST00000520394.1_Missense_Mutation_p.P831S|TENM2_ENST00000518659.1_Missense_Mutation_p.P1063S|TENM2_ENST00000545108.1_Missense_Mutation_p.P1063S					teneurin transmembrane protein 2																		AATCGAGCTCCCTGGTTCCAA	0.493000													64	90					0	0	0.000781405	0	0
CD2AP	23607	broad.mit.edu	37	6	47541942	47541942	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47541942G>A	ENST00000359314.5	+	6	1140	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	228					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TGAAACTTCGGACAAGAACAT	0.373000													59	43					0	0	0.000781405	0	0
TRPC1	7220	broad.mit.edu	37	3	142503749	142503749	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:142503749C>T	ENST00000273482.6	+	6	1453	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	TRPC1_ENST00000476941.1_Silent_p.I388I	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	388					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGAAATTTATCATTCATGGAG	0.373000													14	17					0	0	0.000219431	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313873	41313873	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:41313873C>T	ENST00000377801.3	-	3	887		c.e3-1		PLCXD3_ENST00000328457.3_Splice_Site			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3						intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			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						AGGAAGAGCTCTGAGAAAGGA	0.408000													8	16					0	0	0.000274275	0	0
C14orf39	317761	broad.mit.edu	37	14	60923639	60923639	+	Missense_Mutation	SNP	C	C	T	rs147627198		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:60923639C>T	ENST00000321731.3	-	15	1513	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	452								p.E452K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCCTACATTTCGAACGGGGGG	0.318000													20	29					0	0	0.00121646	0	0
FAAH2	158584	broad.mit.edu	37	X	57473420	57473420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:57473420G>A	ENST00000374900.4	+	9	1296	c.1176G>A	c.(1174-1176)tgG>tgA	p.W392*	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	392						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTCCTCTGTGGGAGTTGATCA	0.393000										HNSCC(52;0.14)			5	0					0	0	0.00116845	0	0
ZNF814	730051	broad.mit.edu	37	19	58384955	58384955	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58384955C>T	ENST00000435989.2	-	3	2037	c.1803G>A	c.(1801-1803)gaG>gaA	p.E601E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	601					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATAAGGCCTCTCTCCAGTAT	0.473000													23	14					0	0	0.000720815	0	0
RGL1	23179	broad.mit.edu	37	1	183881362	183881362	+	Missense_Mutation	SNP	C	C	T	rs1140534		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:183881362C>T	ENST00000304685.3	+	16	2275	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	RGL1_ENST00000367531.1_Missense_Mutation_p.S605F|RGL1_ENST00000539189.1_Missense_Mutation_p.S541F|RGL1_ENST00000536277.1_Missense_Mutation_p.S568F|RGL1_ENST00000360851.3_Missense_Mutation_p.S570F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	570	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAGGAGGGCTCCATTACTCCC	0.532000													25	18					0	0	0.000586117	0	0
ODF2L	57489	broad.mit.edu	37	1	86818611	86818611	+	Silent	SNP	T	T	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:86818611T>G	ENST00000359242.3	-	17	2105	c.1824A>C	c.(1822-1824)atA>atC	p.I608I	ODF2L_ENST00000370567.1_Silent_p.I579I|ODF2L_ENST00000317336.7_Silent_p.I608I|ODF2L_ENST00000370566.3_Silent_p.I526I|ODF2L_ENST00000394731.1_Silent_p.I448I|ODF2L_ENST00000294678.2_Silent_p.I592I	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	608						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CCAGATCTAATATTTTAATTT	0.274000													15	11					0	0	0.000219431	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149214868	149214868	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:149214868C>T	ENST00000309241.5	+	7	1779	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P583S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P519S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P544S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	583					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CACCAGCGACCCAACTTTTGG	0.587000													35	88					0	0	0.000953801	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146401	5146401	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:5146401C>T	ENST00000274181.7	+	3	472	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.L112L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	112					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACATGGATCTGAGGACTTC	0.552000													23	44					0	0	0.000720815	0	0
CLUL1	27098	broad.mit.edu	37	18	624990	624990	+	Silent	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:624990T>A	ENST00000581619.1	+	4	1303	c.456T>A	c.(454-456)atT>atA	p.I152I	CLUL1_ENST00000400606.2_Silent_p.I127I|CLUL1_ENST00000579494.1_Silent_p.I127I|CLUL1_ENST00000540035.1_Silent_p.I179I|CLUL1_ENST00000338387.7_Silent_p.I127I|CLUL1_ENST00000580436.1_3'UTR			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	127					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GCATGAGAATTTATACAACCT	0.438000													15	31					0	0	0.000422831	0	0
TBC1D32	221322	broad.mit.edu	37	6	121560234	121560234	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:121560234A>G	ENST00000275159.6	-	20	2345	c.2346T>C	c.(2344-2346)atT>atC	p.I782I	TBC1D32_ENST00000398212.2_Silent_p.I782I					TBC1 domain family, member 32																		AGCTTCGGTCAATAGGATCCA	0.338000													33	19					0	0	0.000491102	0	0
BCR	613	broad.mit.edu	37	22	23615826	23615826	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:23615826G>A	ENST00000305877.8	+	8	2731	c.1980G>A	c.(1978-1980)ttG>ttA	p.L660L	BCR_ENST00000359540.3_Silent_p.L660L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	660	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GGCAGGACTTGCTGAAGCACA	0.572000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								21	38					0	0	0.00047179	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955423	12955423	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12955423C>T	ENST00000235347.4	-	2	335	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	86										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGTGTATCAAGTCCCCTC	0.607000													16	6					0	0	0.000566183	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415416	42415416	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:42415416C>T	ENST00000328823.9	+	2	195	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	55	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTCTCACTTCATACCGGGTA	0.383000													33	34					0	0	0.00058488	0	0
BCAS1	8537	broad.mit.edu	37	20	52601967	52601967	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:52601967G>A	ENST00000395961.3	-	7	1165	c.999C>T	c.(997-999)acC>acT	p.T333T	BCAS1_ENST00000434986.2_Silent_p.T91T|BCAS1_ENST00000371435.2_Silent_p.T333T|BCAS1_ENST00000371440.3_Silent_p.T378T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	333						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAGCCCCTTGGGTCTCCTGGG	0.498000													38	51					0	0	0.000509022	0	0
TBC1D32	221322	broad.mit.edu	37	6	121560297	121560297	+	Silent	SNP	A	A	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:121560297A>G	ENST00000275159.6	-	20	2282	c.2283T>C	c.(2281-2283)aaT>aaC	p.N761N	TBC1D32_ENST00000398212.2_Silent_p.N761N					TBC1 domain family, member 32																		CATATTCCAGATTGGACCATA	0.333000													27	19					0	0	0.001512	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555149	44555149	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:44555149C>T	ENST00000330682.2	-	1	1300	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	355	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGACCCCTTCCACGTCGCCGA	0.647000													23	312					0	0	0.00106085	0	0
COL4A6	1288	broad.mit.edu	37	X	107437780	107437780	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:107437780C>T	ENST00000334504.7	-	16	1219	c.986G>A	c.(985-987)gGa>gAa	p.G329E	COL4A6_ENST00000538570.1_Missense_Mutation_p.G329E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G330E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G330E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G329E	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	330	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTGGAATCCATTAAGCCC	0.403000									Alport syndrome with Diffuse Leiomyomatosis				82	19					0	0	0.000781405	0	0
OR2M5	127059	broad.mit.edu	37	1	248308997	248308997	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248308997C>T	ENST00000366476.1	+	1	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GACTTCCCTTCCCTACTAATC	0.418000													33	78					0	0	0.000692331	0	0
WDR33	55339	broad.mit.edu	37	2	128474766	128474766	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:128474766G>A	ENST00000322313.4	-	17	2990	c.2832C>T	c.(2830-2832)ccC>ccT	p.P944P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	944					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTTCAGAGGGGGAATGCGAC	0.488000													9	13					0	0	0.000673444	0	0
AKT3	10000	broad.mit.edu	37	1	243675635	243675635	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:243675635G>A	ENST00000366539.1	-	13	1545	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	AKT3_ENST00000366540.1_Missense_Mutation_p.P449S|AKT3_ENST00000336199.5_Missense_Mutation_p.P449S|AKT3_ENST00000263826.5_Missense_Mutation_p.P449S			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	449	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CATTTTTCAGGTGGTGTTATT	0.284000													18	54					0	0	0.000566183	0	0
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:192701073C>T	ENST00000304141.4	-	2	1183	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458000													73	83					0	0	0.000781405	0	0
LRCH4	4034	broad.mit.edu	37	7	100175319	100175319	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100175319G>A	ENST00000310300.6	-	9	1136	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	362					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCCCCGGGGACATGGCTG	0.662000													45	74					0	0	0.000781405	0	0
MYO3A	53904	broad.mit.edu	37	10	26463421	26463421	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:26463421G>A	ENST00000265944.5	+	30	4394	c.4228G>A	c.(4228-4230)Gat>Aat	p.D1410N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1410					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGAAGAAGGATAACAAAGA	0.323000													36	66					0	0	0.00111076	0	0
PKP2	5318	broad.mit.edu	37	12	33030884	33030884	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:33030884C>T	ENST00000340811.4	-	3	1038	c.930G>A	c.(928-930)gtG>gtA	p.V310V	PKP2_ENST00000070846.6_Silent_p.V310V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	310					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)					CGCTGGAATCCACGGCGACAC	0.637000													27	2					0	0	0.001512	0	0
BRSK2	9024	broad.mit.edu	37	11	1432751	1432751	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:1432751G>A	ENST00000382179.1	+	1	370	c.117G>A	c.(115-117)ggG>ggA	p.G39G	BRSK2_ENST00000528710.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000528841.1_Intron|BRSK2_ENST00000308219.9_Intron	NM_001256630.1	NP_001243559.1	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	8	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCAGGGGAGGGGCCGCACATC	0.701000													17	2					0	0	0.000566183	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107569	6107569	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:6107569C>T	ENST00000409021.3	-	3	704	c.255G>A	c.(253-255)caG>caA	p.Q85Q	JAKMIP1_ENST00000409831.1_Silent_p.Q85Q|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Silent_p.Q85Q|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	85	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCGCAGCGCCTGCAGCTCCT	0.677000													19	21					0	0	0.00188189	0	0
DEFA5	1670	broad.mit.edu	37	8	6914065	6914065	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:6914065G>A	ENST00000330590.2	-	1	191	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	52					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TCTAAGAGCAGAGAGTCCATT	0.473000													56	63					0	0	0.000781405	0	0
IFNLR1	163702	broad.mit.edu	37	1	24495953	24495953	+	Silent	SNP	G	G	A	rs141902174		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:24495953G>A	ENST00000327535.1	-	3	333	c.321C>T	c.(319-321)tcC>tcT	p.S107S	IFNLR1_ENST00000374419.1_Silent_p.S24S|IFNLR1_ENST00000374418.3_Silent_p.S107S|IFNLR1_ENST00000327575.2_Silent_p.S107S|IFNLR1_ENST00000374421.3_Silent_p.S107S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		AGGGGGACTTGGAGCTGGGAG	0.547000													21	27					0	0	0.00188189	0	0
SMPD4	55627	broad.mit.edu	37	2	130930247	130930247	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:130930247G>A	ENST00000409031.1	-	7	1723	c.575C>T	c.(574-576)cCg>cTg	p.P192L	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.P119L|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.P79L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P192L|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	153					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	atactcGAACGGATCTGAGAG	0.587000													29	56					0	0	0.000339439	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444537	49444537	+	Silent	SNP	C	C	T	rs148563650		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:49444537C>T	ENST00000374201.3	-	9	1283	c.981G>A	c.(979-981)ccG>ccA	p.P327P	FRMPD2_ENST00000305531.3_Silent_p.P303P|FRMPD2_ENST00000407470.4_Silent_p.P296P	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	327					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAACCGATCCCGGCAGATGTA	0.552000													26	37					0	0	0.000409698	0	0
BRWD1	54014	broad.mit.edu	37	21	40649245	40649245	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:40649245G>A	ENST00000342449.3	-	11	1114	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	BRWD1_ENST00000333229.2_Missense_Mutation_p.H346Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.H346Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGATTACATGATCAGTACTA	0.333000													13	22					0	0	0.000219431	0	0
ZNF417	147687	broad.mit.edu	37	19	58420218	58420218	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58420218C>T	ENST00000312026.5	-	3	1592	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.K277K|ZNF417_ENST00000595559.1_Silent_p.K475K	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCACGCAGTTCTTATTACCAA	0.408000													45	54					0	0	0.000781405	0	0
CBLB	868	broad.mit.edu	37	3	105438891	105438891	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:105438891C>T	ENST00000264122.4	-	10	1728	c.1407_splice	c.e10+1	p.K469_splice	CBLB_ENST00000394027.3_Splice_Site_p.K491_splice|CBLB_ENST00000405772.1_Splice_Site_p.K469_splice|CBLB_ENST00000403724.1_Splice_Site_p.K469_splice	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	469					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTAGTTTTACCTTTCGGACGT	0.438000			Mis S		AML								10	8					0	0	0.000978159	0	0
ACSM1	116285	broad.mit.edu	37	16	20702464	20702464	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:20702464G>A	ENST00000307493.4	-	1	114	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ACSM1_ENST00000520010.1_Missense_Mutation_p.S16F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	16					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTTGTGGAAGGATTTGTGGAT	0.522000													44	61					0	0	0.000781405	0	0
OR2T1	26696	broad.mit.edu	37	1	248570104	248570104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248570104G>A	ENST00000366474.1	+	1	809	c.809G>A	c.(808-810)cGa>cAa	p.R270Q		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTATGCCCGAATCCTGACT	0.507000													10	27					0	0	0.000673444	0	0
ADARB2	105	broad.mit.edu	37	10	1262904	1262904	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:1262904C>T	ENST00000381312.1	-	7	1994	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	557	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGATCTTGTCCGTGCAGGAC	0.687000													6	9					0	0	8.12818e-05	0	0
PRDM14	63978	broad.mit.edu	37	8	70981495	70981495	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:70981495C>A	ENST00000276594.2	-	2	802	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	201					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)			AAGTGCAGGTCCTCCTCCGTG	0.602000													32	29					4.31634e-10	2.75714e-09	0.000409698	1	0
SLC4A1	6521	broad.mit.edu	37	17	42333174	42333174	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:42333174T>C	ENST00000262418.6	-	14	1822	c.1667A>G	c.(1666-1668)aAc>aGc	p.N556S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	556	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCAACACGTTGTAGTTATA	0.537000													57	85					0	0	0.000781405	0	0
SEC24D	9871	broad.mit.edu	37	4	119661857	119661857	+	Silent	SNP	G	G	A	rs140046192	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:119661857G>A	ENST00000379735.5	-	17	2473	c.2202C>T	c.(2200-2202)caC>caT	p.H734H	SEC24D_ENST00000280551.6_Silent_p.H733H|SEC24D_ENST00000511481.1_Silent_p.H364H|SEC24D_ENST00000419654.2_Silent_p.H289H|SEC24D_ENST00000429811.2_Silent_p.H289H|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	733					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			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTTTGTCATCGTGCTTGAACT	0.453000													21	41					0	0	0.000720815	0	0
TPTE2	93492	broad.mit.edu	37	13	20006616	20006616	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:20006616G>A	ENST00000400230.2	-	16	1263	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	TPTE2_ENST00000400103.2_Missense_Mutation_p.R296C|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330C|TPTE2_ENST00000457266.2_Missense_Mutation_p.R296C|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407C|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330C|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367C|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367C			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	407	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CACTTACCACGAATCGAATAA	0.388000													11	21					0	0	0.000673444	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20389662G>A	ENST00000315915.4	+	1	922	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000													16	44					0	0	0.000566183	0	0
PKN1	5585	broad.mit.edu	37	19	14581443	14581443	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:14581443G>A	ENST00000242783.6	+	20	2658	c.2493G>A	c.(2491-2493)gaG>gaA	p.E831E	PKN1_ENST00000342216.4_Silent_p.E837E	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	831	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACGACGAGGTTCGCTACC	0.682000													4	21					0	0	0.000602214	0	0
GDF9	2661	broad.mit.edu	37	5	132197738	132197738	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:132197738C>T	ENST00000378673.2	-	3	1774	c.908G>A	c.(907-909)gGa>gAa	p.G303E	GDF9_ENST00000296875.2_Missense_Mutation_p.G303E			O60383	GDF9_HUMAN	growth differentiation factor 9	303					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCTCTTCTCCCACAGGATA	0.537000													18	32					0	0	0.000566183	0	0
RPL4	6124	broad.mit.edu	37	15	66794245	66794245	+	Missense_Mutation	SNP	G	G	A	rs138828871	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:66794245G>A	ENST00000307961.6	-	5	519	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	RPL4_ENST00000568588.1_Missense_Mutation_p.R49C	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCTCAATACGATGACCTAAC	0.338000													30	32					0	0	0.00178596	0	0
STOX1	219736	broad.mit.edu	37	10	70645062	70645062	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:70645062G>A	ENST00000298596.6	+	3	1593	c.1510G>A	c.(1510-1512)Gga>Aga	p.G504R	STOX1_ENST00000421961.2_Missense_Mutation_p.G394R|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.G504R|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	504						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTCTCACCGAGGAAGCACAAT	0.448000													13	30					0	0	0.00185496	0	0
ZNF28	7576	broad.mit.edu	37	19	53302989	53302989	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53302989C>A	ENST00000438150.2	-	2	2843	c.1950G>T	c.(1948-1950)atG>atT	p.M650I	ZNF28_ENST00000457749.2_Missense_Mutation_p.M703I|ZNF28_ENST00000414252.2_Missense_Mutation_p.M650I|ZNF28_ENST00000360272.4_Missense_Mutation_p.M650I			P17035	ZNF28_HUMAN	zinc finger protein 28	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAAGGTTTGACATCTGACTGA	0.413000													42	56					5.20837e-25	3.3635e-24	0.00195071	1	0
SLC9A9	285195	broad.mit.edu	37	3	143550953	143550953	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:143550953T>A	ENST00000316549.6	-	2	494	c.286A>T	c.(286-288)Aat>Tat	p.N96Y		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	96					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCAGTGATATTAACCAGCAGA	0.348000													20	21					0	0	0.00188189	0	0
MTOR	2475	broad.mit.edu	37	1	11298094	11298094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:11298094G>A	ENST00000361445.4	-	13	2090	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	672					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACACAGTAGCGAATGTCAGGG	0.552000													11	30					0	0	0.000978159	0	0
OR2A5	393046	broad.mit.edu	37	7	143747613	143747613	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143747613G>A	ENST00000408906.2	+	1	153	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACCCTGCTGGGAAATGGGGCC	0.512000													30	28					0	0	0.001512	0	0
MFNG	4242	broad.mit.edu	37	22	37872944	37872944	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:37872944G>A	ENST00000356998.3	-	5	860	c.637C>T	c.(637-639)Ccg>Tcg	p.P213S	MFNG_ENST00000416983.3_Missense_Mutation_p.P199S	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	213					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CTGGCCCACGGAGCCATCTTC	0.622000													15	24					0	0	0.000958276	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158027	26158027	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:26158027G>A	ENST00000325250.1	+	2	1112	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	309							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGCTTTGAGGGATGAGGAACA	0.522000													12	1					0	0	0.00136819	0	0
PTPRG	5793	broad.mit.edu	37	3	62142769	62142769	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:62142769C>T	ENST00000474889.1	+	7	1088	c.711C>T	c.(709-711)gtC>gtT	p.V237V	PTPRG_ENST00000295874.10_Silent_p.V237V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	237	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCCTTTCGTCCTCCGGGACC	0.517000													26	40					0	0	0.00127121	0	0
GPR85	54329	broad.mit.edu	37	7	112724689	112724689	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:112724689T>A	ENST00000501255.2	-	3	711	c.88A>T	c.(88-90)Ata>Tta	p.I30L	GPR85_ENST00000449591.1_Missense_Mutation_p.I30L|GPR85_ENST00000297146.2_Missense_Mutation_p.I30L|GPR85_ENST00000424100.1_Missense_Mutation_p.I30L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	30						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTCCTATTATGAAACCCAAG	0.453000													17	37					0	0	0.000958276	0	0
CLDN16	10686	broad.mit.edu	37	3	190122569	190122569	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:190122569G>A	ENST00000264734.2	+	3	694	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	149			R -> L (in HOMG3).		calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTGGTAACTCGAGCGTTGATG	0.448000													35	62					0	0	0.00170553	0	0
MICALL1	85377	broad.mit.edu	37	22	38321969	38321969	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38321969C>T	ENST00000215957.6	+	8	1510	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	462	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GTCCCTGCACCCCTGGTACGG	0.687000													6	10					0	0	0.000157383	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780696	106780696	+	RNA	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:106780696C>T	ENST00000390612.2	-	0	239																											GCTGCCGGATCCAGCCCCACC	0.582000													20	31					0	0	0.00152264	0	0
RP1L1	94137	broad.mit.edu	37	8	10465954	10465954	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:10465954G>A	ENST00000382483.3	-	4	5877	c.5654C>T	c.(5653-5655)cCa>cTa	p.P1885L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1885					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGACTCTGGCTGGGCCTC	0.627000													66	72					0	0	0.000781405	0	0
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:10443353C>T	ENST00000245503.5	-	12	1423	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	MYH2_ENST00000397183.2_Missense_Mutation_p.E347K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E347K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	347	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E347K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTTCTTCATTAGTAAAG	0.423000													39	43					0	0	0.00128727	0	0
BROX	148362	broad.mit.edu	37	1	222892362	222892362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:222892362C>A	ENST00000340934.5	+	3	603	c.197C>A	c.(196-198)tCa>tAa	p.S66*	BROX_ENST00000537020.1_Nonsense_Mutation_p.S66*|BROX_ENST00000539697.1_Nonsense_Mutation_p.S66*	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	66						membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCATATTTCTCACTTTTACAA	0.313000													10	573					0.00136819	0.00858408	0.00136819	1	0
SLC17A1	6568	broad.mit.edu	37	6	25819768	25819768	+	Missense_Mutation	SNP	C	C	T	rs146175657	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:25819768C>T	ENST00000244527.4	-	5	615	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	SLC17A1_ENST00000427328.1_Missense_Mutation_p.R167Q|SLC17A1_ENST00000468082.1_Missense_Mutation_p.R167Q|SLC17A1_ENST00000476801.1_Missense_Mutation_p.R167Q	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGTCGGCCTCGTTCCAGGGG	0.393000													26	95					0	0	0.00106085	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220915	146220915	+	RNA	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:146220915G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TCAAGGCTAAGAAGTTGATTG	0.493000													9	5					0	0	0.000442599	0	0
OR10C1	442194	broad.mit.edu	37	6	29408518	29408518	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29408518C>T	ENST00000444197.2	+	1	1436	c.726C>T	c.(724-726)tcC>tcT	p.S242S	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCTCCTCCCACCTGATCA	0.592000													94	207					0	0	0.000781405	0	0
SPDYC	387778	broad.mit.edu	37	11	64938873	64938873	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64938873C>T	ENST00000377185.2	+	2	184	c.102C>T	c.(100-102)acC>acT	p.T34T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	34					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAGTTACCACCCAGGTAGAGC	0.607000													30	50					0	0	0.000339439	0	0
TTN	7273	broad.mit.edu	37	2	179537416	179537416	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179537416G>A	ENST00000589042.1	-	153	35025	c.34801C>T	c.(34801-34803)Cct>Tct	p.P11601S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11227S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10300S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11433	Glu-rich.|Pro-rich.						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)			TTTTCCTCAGGAATTTTCTTT	0.373000													3	2					0	0	0.00024832	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556877	45556877	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:45556877G>A	ENST00000347644.3	+	7	678	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	205					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGTGTTTTCGGGCCTAGGTCT	0.418000													28	39					0	0	0.00128727	0	0
GPATCH1	55094	broad.mit.edu	37	19	33579109	33579109	+	Missense_Mutation	SNP	G	G	A	rs150368616	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:33579109G>A	ENST00000170564.2	+	2	457	c.143G>A	c.(142-144)cGa>cAa	p.R48Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	48						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGTATAAACGATTCCACGGG	0.348000													39	55					0	0	0.00148497	0	0
SVEP1	79987	broad.mit.edu	37	9	113173450	113173450	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:113173450C>T	ENST00000401783.2	-	37	6877	c.6541G>A	c.(6541-6543)Gaa>Aaa	p.E2181K	SVEP1_ENST00000297826.5_Missense_Mutation_p.E107K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2158K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2181	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCTTCTTTTCCCCTTTGATG	0.507000													14	5					0	0	0.000308642	0	0
AQP6	363	broad.mit.edu	37	12	50368136	50368136	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:50368136G>A	ENST00000551733.1	+	0	408				AQP6_ENST00000315520.5_Silent_p.A144A			Q13520	AQP6_HUMAN	aquaporin 6, kidney specific						excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGGCCAGGCGGTGGCAGTGG	0.622000											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	11					0	0	0.000781405	0	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:11461723C>T	ENST00000279575.1	-	3	227	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_ENST00000445719.2_Missense_Mutation_p.G65E|PRB4_ENST00000535904.1_Missense_Mutation_p.G65E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	65	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)			25	178					0	0	0.000878237	0	0
PDE6C	5146	broad.mit.edu	37	10	95372844	95372844	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:95372844C>T	ENST00000371447.3	+	1	500	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	121	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACCCCCACCTCCAAGTTTGAG	0.562000													27	35					0	0	0.000339439	0	0
TLR8	51311	broad.mit.edu	37	X	12939813	12939813	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:12939813C>T	ENST00000218032.6	+	2	2741	c.2654C>T	c.(2653-2655)tCt>tTt	p.S885F	TLR8_ENST00000311912.5_Missense_Mutation_p.S903F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	885	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTTACATTTCTTATGACACC	0.403000													31	6					0	0	0.000339439	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324840	79324840	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:79324840T>A	ENST00000428286.1	-	8	2473	c.1273A>T	c.(1273-1275)Aat>Tat	p.N425Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.N784Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	784					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGTAGGATTTCCCCAGGGC	0.493000													8	6					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179426124	179426124	+	Silent	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179426124T>C	ENST00000589042.1	-	326	84959	c.84735A>G	c.(84733-84735)gaA>gaG	p.E28245E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.E19305E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.E19372E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.E19180E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.E26604E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.E25677E|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26604	Ig-like 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25675E(1)|p.E19372E(1)|p.E19180E(1)|p.E19305E(1)		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)			CAGGGACTGGTTCACAAGATT	0.403000													20	33					0	0	0.000375601	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353807	77353807	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:77353807G>A	ENST00000282849.5	-	16	2889	c.2471C>T	c.(2470-2472)tCt>tTt	p.S824F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	824	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCGGTTGAAAGAGCGCTGGTA	0.557000													16	5					0	0	0.000566183	0	0
METRNL	284207	broad.mit.edu	37	17	81052232	81052232	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:81052232G>A	ENST00000571814.1	+	3	1543	c.602G>A	c.(601-603)gGc>gAc	p.G201D	METRNL_ENST00000570778.1_Missense_Mutation_p.G201D|METRNL_ENST00000320095.7_Missense_Mutation_p.G283D			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	283						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCGCGGCTCGGCTGTGCCCCA	0.672000													24	22					0	0	0.000375601	0	0
UPF1	5976	broad.mit.edu	37	19	18976861	18976861	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:18976861C>T	ENST00000262803.5	+	23	3518	c.3246C>T	c.(3244-3246)taC>taT	p.Y1082Y	UPF1_ENST00000599848.1_Silent_p.Y1093Y	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1093	Gln/Ser-rich.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGGACAGTTACCTTGGTGACG	0.562000													10	19					0	0	0.000673444	0	0
DNAH17	8632	broad.mit.edu	37	17	76570936	76570936	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:76570936G>A	ENST00000389840.5	-	2	328	c.204C>T	c.(202-204)ttC>ttT	p.F68F	DNAH17_ENST00000585328.1_Silent_p.F68F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGACTGGGGGAAGCCCAGGC	0.547000													40	26					0	0	0.00170553	0	0
ZFAT	57623	broad.mit.edu	37	8	135614806	135614806	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:135614806C>T	ENST00000520727.1	-	7	1419	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	ZFAT_ENST00000377838.3_Missense_Mutation_p.E386K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E324K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E374K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E374K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E374K	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCAAGGCCTCTTTGACCTTC	0.562000													37	36					0	0	0.000781405	0	0
BANP	54971	broad.mit.edu	37	16	88039697	88039697	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:88039697G>T	ENST00000393207.1	+	6	678	c.455_splice	c.e6-1	p.A153_splice	BANP_ENST00000286122.7_Splice_Site_p.A153_splice|BANP_ENST00000479780.2_Splice_Site_p.A122_splice|BANP_ENST00000355022.4_Splice_Site_p.A122_splice|BANP_ENST00000355163.5_Splice_Site_p.A128_splice|BANP_ENST00000393208.2_Splice_Site_p.A122_splice|BANP_ENST00000538234.1_Splice_Site_p.A161_splice	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	153	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCGTTTAGCGCTGTGCCTGG	0.592000													31	10					1.30293e-26	8.42036e-26	0.00058488	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118202572	118202572	+	Silent	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:118202572C>T	ENST00000369230.3	+	3	356	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	70					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACAGGAGATCAGTGCGGTTA	0.358000													7	4					0	0	8.12818e-05	0	0
NEB	4703	broad.mit.edu	37	2	152470873	152470873	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:152470873T>C	ENST00000397345.3	-	77	11720	c.11518A>G	c.(11518-11520)Aag>Gag	p.K3840E	NEB_ENST00000409198.1_Missense_Mutation_p.K3597E|NEB_ENST00000172853.10_Missense_Mutation_p.K3597E|NEB_ENST00000427231.2_Missense_Mutation_p.K3840E|NEB_ENST00000603639.1_Missense_Mutation_p.K3840E|NEB_ENST00000604864.1_Missense_Mutation_p.K3840E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3840					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGGATGCTTGTAGTCTATG	0.522000													25	27					0	0	0.00047179	0	0
DNAH8	1769	broad.mit.edu	37	6	38980282	38980282	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:38980282G>A	ENST00000359357.3	+	89	13186	c.12932G>A	c.(12931-12933)aGa>aAa	p.R4311K	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4275K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCTGGAAAAGAGTGTCTTGG	0.413000													18	76					0	0	0.00121646	0	0
EMR1	2015	broad.mit.edu	37	19	6897529	6897529	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6897529G>A	ENST00000312053.4	+	5	522	c.485G>A	c.(484-486)gGa>gAa	p.G162E	EMR1_ENST00000250572.8_Missense_Mutation_p.G162E|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.G110E|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	162	EGF-like 3; calcium-binding (Potential).				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)					TGTCAAGTTGGATTCATCTCT	0.438000													24	28					0	0	0.000586117	0	0
IGFN1	91156	broad.mit.edu	37	1	201184788	201184788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:201184788G>A	ENST00000335211.4	+	15	9247	c.9117G>A	c.(9115-9117)tgG>tgA	p.W3039*	IGFN1_ENST00000295591.8_Nonsense_Mutation_p.W199*|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCTGCCTGGAGGAAGGACG	0.637000													12	29					0	0	0.000308642	0	0
PIP	5304	broad.mit.edu	37	7	142836727	142836727	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142836727G>A	ENST00000291009.3	+	4	473	c.433G>A	c.(433-435)Gta>Ata	p.V145I		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	145						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AATCCTAAAGGTAGAATAATG	0.408000													69	83					0	0	0.000781405	0	0
NF1	4763	broad.mit.edu	37	17	29509615	29509615	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:29509615C>T	ENST00000358273.4	+	8	1203	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	NF1_ENST00000356175.3_Missense_Mutation_p.L274F|NF1_ENST00000431387.4_Missense_Mutation_p.L274F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	274					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCATTCTCCTTATCTTGTG	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			21	22					0	0	0.00152264	0	0
CNTN1	1272	broad.mit.edu	37	12	41318411	41318411	+	Silent	SNP	G	G	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:41318411G>C	ENST00000551295.2	+	6	570	c.453G>C	c.(451-453)ggG>ggC	p.G151G	CNTN1_ENST00000360099.3_Silent_p.G151G|CNTN1_ENST00000347616.1_Silent_p.G151G|CNTN1_ENST00000348761.2_Silent_p.G140G|CNTN1_ENST00000547702.1_Silent_p.G151G|CNTN1_ENST00000547849.1_Silent_p.G151G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	151	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAAAAGAAGGGAAAGGAATGG	0.403000													6	0					0	0	8.12818e-05	0	0
SCAMP1	9522	broad.mit.edu	37	5	77755108	77755108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:77755108C>T	ENST00000538629.1	+	8	932	c.775C>T	c.(775-777)Cct>Tct	p.P259S	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	259					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		CCAAAATATTCCTGTTGGAAT	0.308000													11	12					0	0	0.000422831	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957838	120957838	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:120957838C>T	ENST00000273666.6	+	13	1476	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P402L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P402L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P402L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P402L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	402					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTGAAAATCCATATCCCATG	0.313000													9	12					0	0	0.000673444	0	0
COL17A1	1308	broad.mit.edu	37	10	105797396	105797396	+	Missense_Mutation	SNP	C	C	T	rs147631156	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105797396C>T	ENST00000353479.5	-	46	3496	c.3206G>A	c.(3205-3207)cGg>cAg	p.R1069Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R1024Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1069	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCTTACTCCGTAAGTAGCT	0.602000													38	38					0	0	0.00148497	0	0
VARS	7407	broad.mit.edu	37	6	31752211	31752211	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31752211G>A	ENST00000375663.3	-	12	1976	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	VARS_ENST00000444930.2_Silent_p.F217F	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	512					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGAGGACCCCGAACTCCACCT	0.597000													181	457					0	0	0.000781405	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516156	140516156	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140516156G>A	ENST00000231134.5	+	1	1357	c.1140G>A	c.(1138-1140)atG>atA	p.M380I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTAGGATGATTTGCTCCA	0.488000													24	46					0	0	0.001512	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555148	44555148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:44555148C>T	ENST00000330682.2	-	1	1301	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	356	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGGACCCCTTCCACGTCGCCG	0.652000													24	318					0	0	0.00127121	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961797	100961797	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:100961797G>A	ENST00000375066.5	-	13	2711	c.2620C>T	c.(2620-2622)Cac>Tac	p.H874Y	TBC1D2_ENST00000375063.1_Missense_Mutation_p.H425Y|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.H667Y	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	885						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCTCCCGGTGGACCATGCGC	0.632000													68	34					0	0	0.000781405	0	0
VCAN	1462	broad.mit.edu	37	5	82817592	82817592	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:82817592C>T	ENST00000265077.3	+	7	4032	c.3467C>T	c.(3466-3468)cCt>cTt	p.P1156L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1156L|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1108L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1156	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTTTGAGTCCTTTTAGTACC	0.393000													21	38					0	0	0.000295444	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95201808	95201808	+	Silent	SNP	C	C	T	rs143809731		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:95201808C>T	ENST00000354268.4	+	20	2557	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	SMARCAD1_ENST00000457823.2_Silent_p.F830F|SMARCAD1_ENST00000509418.1_Silent_p.F398F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	828					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACAGACTTCGAACTACATG	0.343000													52	68					0	0	0.000781405	0	0
SCN10A	6336	broad.mit.edu	37	3	38739732	38739732	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:38739732G>A	ENST00000449082.2	-	27	4978	c.4979C>T	c.(4978-4980)tCg>tTg	p.S1660L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1660					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)	CCAGCCGGCCGACGTGGTAAT	0.607000													33	41					0	0	0.000692331	0	0
SOX6	55553	broad.mit.edu	37	11	16071335	16071335	+	Silent	SNP	G	G	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:16071335G>A	ENST00000352083.6	-	11	1478	c.1401C>T	c.(1399-1401)ccC>ccT	p.P467P	SOX6_ENST00000396356.3_Silent_p.P467P|SOX6_ENST00000528252.1_Silent_p.P426P|SOX6_ENST00000528429.1_Silent_p.P467P|SOX6_ENST00000527619.1_Silent_p.P429P|SOX6_ENST00000316399.6_Silent_p.P467P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	467					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCCTCCAATGGGGCTAGGGA	0.488000													30	4					0	0	0.000491102	0	0
MYH4	4622	broad.mit.edu	37	17	10356141	10356141	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:10356141C>T	ENST00000255381.2	-	25	3330	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1074					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTCATTTTCTGTATCCATT	0.368000													55	71					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196786910	196786910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:196786910delT	ENST00000312428.6	-	24	3937	c.3837delA	c.(3835-3837)ttfs	p.L1279fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1279	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTGTTTCTAAATGATTTT	0.294													9	18	---	---	---	---					
SNRK	54861	broad.mit.edu	37	3	43389865	43389875	+	Frame_Shift_Del	DEL	AGTTTTTCTCT	AGTTTTTCTCT	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:43389865_43389875delAGTTTTTCTCT	ENST00000296088.7	+	7	2418_2428	c.2114_2124delAGTTTTTCTCT	c.(2113-2124)afs	p.KFFS705fs	SNRK_ENST00000454177.1_Frame_Shift_Del_p.KFFS705fs|SNRK_ENST00000429705.2_Frame_Shift_Del_p.KFFS705fs|SNRK_ENST00000437827.1_Frame_Shift_Del_p.KFFS499fs	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	705					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCGGCATAAAGTTTTTCTCTGACCACATGG	0.469													27	52	---	---	---	---					
DNAH12	201625	broad.mit.edu	37	3	57509312	57509313	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:57509312_57509313insT	ENST00000351747.2	-	4	456_457	c.276_277insA	c.(274-279)aagattfs	p.I93fs	DNAH12_ENST00000311202.6_Frame_Shift_Ins_p.I93fs|DNAH12_ENST00000389536.4_Frame_Shift_Ins_p.I93fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	93	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GAACTCACTCCTTTTTTTTTCA	0.252													7	61	---	---	---	---					
AFP	174	broad.mit.edu	37	4	74313277	74313285	+	In_Frame_Del	DEL	AATTCATGC	AATTCATGC	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:74313277_74313285delAATTCATGC	ENST00000395792.2	+	8	1042_1050	c.942_950delAATTCATGC	c.(940-951)ata>at	p.IIHA314del	AFP_ENST00000226359.2_In_Frame_Del_p.IIHA314del	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	314	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCAATGTATAATTCATGCAGAAAATGAT	0.349									Alpha-Fetoprotein, Hereditary Persistence of				9	32	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137728990	137728991	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:137728990_137728991delGC	ENST00000314358.5	+	9	2960_2961	c.2760_2761delGC	c.(2758-2763)gaggfs	p.ER920fs	KDM3B_ENST00000542866.1_5'UTR|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.ER576fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	920					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCGCCTGGAGCGGTACCGGAA	0.510													10	21	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													3	5	---	---	---	---					
HRAS	3265	broad.mit.edu	37	11	533312	533321	+	Frame_Shift_Del	DEL	GGGTCCCAGA	GGGTCCCAGA	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:533312_533321delGGGTCCCAGA	ENST00000417302.1	-	5	675_684	c.488_497delTCTGGGACCC	c.(487-498)ccfs	p.LWDP163fs	HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Frame_Shift_Del_p.LWDP163fs|HRAS_ENST00000397596.2_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	0					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GGGTCCCGGGGGGTCCCAGAGGGTCCCGGA	0.738		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			16	5	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40137645	40137646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:40137645_40137646insT	ENST00000278198.2	-	2	2160_2161	c.197_198insA	c.(196-198)actfs	p.T66fs	LRRC4C_ENST00000527150.1_Frame_Shift_Ins_p.T66fs|LRRC4C_ENST00000530763.1_Frame_Shift_Ins_p.T66fs|LRRC4C_ENST00000528697.1_Frame_Shift_Ins_p.T66fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	66	LRRNT.				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)				CCTCACGCAGGTTTTTCCGAAC	0.525													30	5	---	---	---	---					
DLG2	1740	broad.mit.edu	37	11	83194323	83194324	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:83194323_83194324insG	ENST00000426717.2	-	5	622_623	c.342_343insC	c.(340-345)ggacgafs	p.R115fs	DLG2_ENST00000532653.1_Frame_Shift_Ins_p.R633fs|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.R387fs|DLG2_ENST00000531015.1_Intron|DLG2_ENST00000398304.1_Frame_Shift_Ins_p.R115fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.R633fs|DLG2_ENST00000376106.3_Frame_Shift_Ins_p.R115fs|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.R572fs|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000418306.2_Frame_Shift_Ins_p.R530fs|DLG2_ENST00000404783.3_Frame_Shift_Ins_p.R115fs	NM_001142702.1	NP_001136174.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	633	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TAACCGTCGTCACCTAATCCGG	0.450													2	4	---	---	---	---					
OVCH1	341350	broad.mit.edu	37	12	29631833	29631846	+	Splice_Site	DEL	ATGTCTAAACTTGT	ATGTCTAAACTTGT	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:29631833_29631846delATGTCTAAACTTGT	ENST00000318184.5	-	9	995_1003	c.995_splice	c.e9-1	p.M332_splice	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	332	CUB 1.				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)					TTGCTTTTCCATGTCTAAACTTGTAAATTTTATC	0.318													3	6	---	---	---	---					
TUBB8P7	197331	broad.mit.edu	37	16	90160897	90160898	+	RNA	INS	-	-	GCG			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:90160897_90160898insGCG	ENST00000564451.1	+	0	848_849				TUBB8P7_ENST00000567960.1_RNA																							CTCCTGGGAACGCGGCCCTCCC	0.728													5	6	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													5	5	---	---	---	---					
TCEB3CL2	100506888	broad.mit.edu	37	18	44543228	44543229	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:44543228_44543229delTG	ENST00000591973.2	-	1	1378_1379	c.1143_1144delCA	c.(1141-1146)gaatfs	p.DN381fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1			transcription elongation factor B polypeptide 3C-like 2																		AGTGCGGCATTGTCTTTCTCTG	0.584													14	373	---	---	---	---					
MAP1S	55201	broad.mit.edu	37	19	17845123	17845125	+	In_Frame_Del	DEL	GTG	GTG	-	rs71791998		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:17845123_17845125delGTG	ENST00000324096.4	+	7	3217_3219	c.3066_3068delGTG	c.(3064-3069)acg>ac	p.TW1022del	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_In_Frame_Del_p.TW996del	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1022	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCATGCATACGTGGTACGCAGAG	0.660													7	16	---	---	---	---					
