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
OR4N4	283694	broad.mit.edu	37	15	22383185	22383185	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:22383185C>T	ENST00000328795.4	+	1	804	c.713C>T	c.(712-714)tCc>tTc	p.S238F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGGCCATGTCCACGTGCACC	0.493000													5	52					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231794	29231794	+	RNA	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:29231794C>T	ENST00000441381.1	+	0	265																											TGATCATCTCCAGCTGAGGCT	0.388000													5	53					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432246	228432246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:228432246G>A	ENST00000570156.2	+	12	3805	c.3731G>A	c.(3730-3732)aGa>aAa	p.R1244K	OBSCN_ENST00000422127.1_Missense_Mutation_p.R1152K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1152K|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	194	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCAGAGAGTCTCCTTC	0.542000													13	43					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627211	40627211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:40627211C>T	ENST00000372771.4	+	1	167	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	47					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCGGGAGCCTCGGGACTGCGG	0.652000													12	31					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232840	13232840	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:13232840T>A	ENST00000197268.8	+	12	1880	c.1760T>A	c.(1759-1761)aTg>aAg	p.M587K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	587						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)		TGGGCACTAATGGAGGGCCAG	0.537000													10	28					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100712025	100712025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:100712025C>T	ENST00000358544.2	+	36	6505	c.6394C>T	c.(6394-6396)Caa>Taa	p.Q2132*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q2107*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2132					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTGCTTTCAAAAAATTTC	0.403000													3	28					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48258890	48258890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:48258890G>A	ENST00000229022.3	-	5	498	c.217C>T	c.(217-219)Cga>Tga	p.R73*	VDR_ENST00000395324.2_Nonsense_Mutation_p.R73*|VDR_ENST00000550325.1_Nonsense_Mutation_p.R123*|VDR_ENST00000549336.1_Nonsense_Mutation_p.R73*|VDR_ENST00000535672.1_Nonsense_Mutation_p.R41*	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	73			R -> Q (in VDDR2A).		decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGTGGCGTCGGTTGTCCTTG	0.627000													18	83					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409936	13409936	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:13409936C>T	ENST00000360228.5	-	19	2510	c.2511G>A	c.(2509-2511)aaG>aaA	p.K837K	CACNA1A_ENST00000573710.2_Silent_p.K838K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	838					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCGCCCGGCTCTTGTTGGTGT	0.692000													3	19					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903196	22903196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:22903196G>A	ENST00000166244.3	+	3	718	c.646G>A	c.(646-648)Gag>Aag	p.E216K	EPHA8_ENST00000374644.4_Missense_Mutation_p.E216K|EPHA8_ENST00000538803.1_Missense_Mutation_p.E216K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	216	Cys-rich.					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)		TGCCTTCTCGGAGGCAGTGAC	0.632000													12	33					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373274	59373274	+	Silent	SNP	A	A	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:59373274A>T	ENST00000348370.4	+	8	2521	c.2088A>T	c.(2086-2088)atA>atT	p.I696I	RNF111_ENST00000434298.1_Silent_p.I696I|RNF111_ENST00000557998.1_Silent_p.I696I|RNF111_ENST00000559209.1_Silent_p.I696I|RNF111_ENST00000561186.1_Silent_p.I696I	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	696	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATTCTCAAATATCTTCTCATG	0.517000													17	60					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121980	73121980	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:73121980C>T	ENST00000373189.5	+	6	1095	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	348					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTTTCATCCCCCTCACTACC	0.582000													23	134					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87482295	87482295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:87482295G>A	ENST00000304053.6	+	14	2065	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	NTRK2_ENST00000277120.3_Missense_Mutation_p.E528K|NTRK2_ENST00000376214.1_Missense_Mutation_p.E528K|NTRK2_ENST00000323115.4_Missense_Mutation_p.E512K|NTRK2_ENST00000376213.1_Missense_Mutation_p.E512K|NTRK2_ENST00000376208.1_Missense_Mutation_p.E512K	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	512					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CCCTGTCATTGAAAATCCCCA	0.463000										TSP Lung(25;0.17)			8	89					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118106283	118106283	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:118106283G>A	ENST00000278949.4	-	4	528	c.473C>T	c.(472-474)tCt>tTt	p.S158F	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.S146F			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	158					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGGGCCACAGAGGAAAGCAT	0.527000													9	41					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45743216	45743216	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:45743216C>T	ENST00000297323.7	+	16	2611	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	863					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTACCAGTCCTACTCCCAGG	0.577000													4	47					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816838	23816838	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:23816838G>A	ENST00000354772.3	-	8	1550	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.A349A|SLC22A17_ENST00000206544.8_Silent_p.A349A|SLC22A17_ENST00000397260.3_Silent_p.A238A	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	349					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CACAGGCCAGGGCTGCGGTGC	0.637000													8	38					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72082882	72082882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:72082882G>A	ENST00000265381.4	-	5	1561	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	447	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGGGTCCCGGAACTGTAACA	0.557000													22	99					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662920	227662920	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:227662920G>A	ENST00000305123.4	-	1	1555	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	179	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATACCAATCAGGTTCTTTGTC	0.577000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	46					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998723	120998723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:120998723G>A	ENST00000273666.6	+	19	2301	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G677E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G677E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G677E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G677E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	677					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)		TTAAGCATGGGGACCATTGAC	0.398000													6	39					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739528	121739528	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:121739528G>A	ENST00000261367.7	+	5	1667	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SNCAIP_ENST00000379533.2_Missense_Mutation_p.R80Q|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R33Q|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E24K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R80Q|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R33Q|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E18K|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R33Q			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	33					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)		GAACTGTGCCGAAGATGTGAT	0.453000													7	68					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98902346	98902346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:98902346G>A	ENST00000295268.3	-	6	825	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TGTGTGAATCGAACAGCACTT	0.388000													8	52					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331194	55331194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:55331194G>A	ENST00000391728.4	+	4	415	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A33T|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A128T|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A128T|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A128T|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A128T	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTCCCTCCTGGCCCACCCAGG	0.483000													7	39					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25639378	25639378	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:25639378C>T	ENST00000262394.2	+	9	1565	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F	WSB1_ENST00000348811.2_Missense_Mutation_p.L271F	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	417	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTTGGAGTTTCTCTCGTATCG	0.443000													25	166					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242430480	242430480	+	Missense_Mutation	SNP	C	C	T	rs143557762	byFrequency	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:242430480C>T	ENST00000264042.3	+	23	2679	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	837	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTGCAGCACTCGGCTGGAGAA	0.637000													15	65					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679659	33679659	+	Missense_Mutation	SNP	C	C	T	rs71366434		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:33679659C>T	ENST00000394566.1	-	7	2694	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	SLFN11_ENST00000308377.4_Missense_Mutation_p.D808N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	808						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGCAACATCCTTTGGAGAA	0.468000													3	25					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472466	88472466	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:88472466C>T	ENST00000394480.1	-	17	2410	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N	NTRK3_ENST00000558676.1_Missense_Mutation_p.D689N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D697N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D689N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D689N|NTRK3_ENST00000360948.2_Missense_Mutation_p.D697N|NTRK3_ENST00000542733.2_Missense_Mutation_p.D599N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	697	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGCCGAAGTCCCCAATCTTC	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			10	59					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532331	84532331	+	RNA	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:84532331G>A	ENST00000527857.1	+	0	2353					NR_026851.1																						AGAATGTGGGGAATTATCAGG	0.478000													5	20					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55817624	55817624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:55817624C>T	ENST00000309383.1	+	17	2172	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	BRSK1_ENST00000326848.7_Missense_Mutation_p.P327L|BRSK1_ENST00000590333.1_Missense_Mutation_p.P648L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	632					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCTCAGATCCCCAGCCTGAGT	0.617000													3	21					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136494965	136494965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:136494965C>T	ENST00000308191.6	+	9	1045	c.742C>T	c.(742-744)Cga>Tga	p.R248*	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	248	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TCATCACTGGCGATCTACAAT	0.413000													6	25					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40498317	40498317	+	Silent	SNP	A	A	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:40498317A>G	ENST00000378426.1	-	2	655	c.58T>C	c.(58-60)Tta>Cta	p.L20L	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_Silent_p.L20L|CXorf38_ENST00000327877.5_Silent_p.L139L			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	139										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATGAGACTTAAAAGAGCAACT	0.498000													4	15					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284560	19284560	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:19284560C>T	ENST00000308406.5	+	4	1424	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	MAPK7_ENST00000395604.3_Silent_p.F346F|MAPK7_ENST00000395602.4_Silent_p.F346F|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Silent_p.F207F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	346	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCACCCTTTCCTGGCCAAGT	0.617000													3	33					0	0	1	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060884	90060884	+	RNA	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:90060884C>T	ENST00000436451.2	+	0	298																											TCTCAGGGGTCCCCTCGAGGT	0.507000													7	47					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187860	42187860	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:42187860C>T	ENST00000006724.3	-	3	763	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	CEACAM7_ENST00000401731.1_Missense_Mutation_p.V188I|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	188	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTGGGACTGACCAGGAGGCTC	0.488000													20	75					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98545883	98545883	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:98545883C>T	ENST00000359863.4	+	33	4776	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	TRRAP_ENST00000355540.3_Silent_p.L1505L|TRRAP_ENST00000446306.3_Silent_p.L1504L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1523					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTTTTTCATCTGATCCCGGC	0.443000													11	37					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	G	A	rs115882083	byFrequency	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:4869718G>A	ENST00000322101.2	-	1	796	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000													4	42					0	0	1	0	0
LINC00471	151477	broad.mit.edu	37	2	232378297	232378297	+	RNA	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:232378297C>T	ENST00000313064.2	-	0	304					NR_024079.1																						TCTTCTACCTCCTTTGGGGAA	0.378000													12	45					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63231041	63231041	+	Missense_Mutation	SNP	C	C	T	rs150197207		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:63231041C>T	ENST00000539221.1	-	6	857	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	HRASLS5_ENST00000301790.4_Silent_p.A258A|HRASLS5_ENST00000540857.1_Silent_p.A248A			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	242										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGCAGCCTTCGCTCCTTCCA	0.512000													4	53					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150815687	150815687	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:150815687G>A	ENST00000397238.2	+	7	937	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	AGAP3_ENST00000473312.1_Missense_Mutation_p.A313T|AGAP3_ENST00000463381.1_Missense_Mutation_p.A85T|AGAP3_ENST00000335367.3_Missense_Mutation_p.A493T|AGAP3_ENST00000479901.1_Missense_Mutation_p.A313T	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	277	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGCCGTGTCCGCCGCCTCCAT	0.662000													4	121					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748431	111748431	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:111748431C>T	ENST00000261726.6	+	15	1999	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	615						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGAAGCAGTTCCTGTCGGATG	0.647000													4	48					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20610062	20610062	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr20:20610062C>T	ENST00000202677.6	-	10	1320	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	393					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAAGAGAATCCGCTGTACCAT	0.468000													3	22					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708363	141708363	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:141708363C>T	ENST00000475668.2	+	3	239	c.185C>T	c.(184-186)cCt>cTt	p.P62L	MGAM_ENST00000549489.2_Missense_Mutation_p.P62L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	62	Ser/Thr-rich.				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)	ACCCCAGATCCTGGAACAACT	0.478000													5	24					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30318518	30318518	+	Silent	SNP	T	T	A	rs149435090	by1000genomes	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:30318518T>A	ENST00000361371.4	-	20	3729	c.3579A>T	c.(3577-3579)atA>atT	p.I1193I	LTN1_ENST00000389194.2_Silent_p.I1239I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1193							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCCAGGATATTATGATTTTTA	0.308000													8	28					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38197087	38197087	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:38197087C>T	ENST00000373048.4	-	7	1658	c.1659G>A	c.(1657-1659)ggG>ggA	p.G553G	EPHA10_ENST00000540011.1_Silent_p.G48G|EPHA10_ENST00000330210.7_Silent_p.G48G|EPHA10_ENST00000427468.2_Silent_p.G553G|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	553						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)				ACTTACCCTCCCCCAGGGTCT	0.592000													8	53					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142627	177142627	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:177142627G>A	ENST00000296525.3	-	4	622	c.509C>T	c.(508-510)tCc>tTc	p.S170F	ASB5_ENST00000512254.1_Missense_Mutation_p.S117F	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	170					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGCGTTGGGGATGGAAGACA	0.502000													8	57					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964912	40964912	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:40964912G>A	ENST00000313164.9	+	14	2178	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	607	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTCTCTTATTGGAAACCCAGT	0.398000													8	36					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605217	37605217	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:37605217C>T	ENST00000399151.3	+	15	2551	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	822					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGTGATAAACCATTCCCAGT	0.488000													13	66					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45245939	45245939	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:45245939T>C	ENST00000263765.4	+	8	1265	c.1016T>C	c.(1015-1017)tTc>tCc	p.F339S	PRDM11_ENST00000424263.2_Missense_Mutation_p.F305S|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.F339S|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	339										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GACCTGATTTTCAAGGATGTT	0.517000													20	82					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805735	91805735	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:91805735G>A	ENST00000389857.6	-	8	782	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	232					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGTCGGCGCTGGAGGACTTGA	0.667000													4	17					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155269944	155269944	+	Silent	SNP	C	C	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:155269944C>A	ENST00000392414.3	-	2	248	c.135G>T	c.(133-135)ctG>ctT	p.L45L	PKLR_ENST00000342741.4_Silent_p.L76L	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	76					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGTCAATGTCCAGTAGGCAGA	0.602000													14	25					2.61681e-11	2.68917e-11	1	1	0
TLR10	81793	broad.mit.edu	37	4	38775501	38775501	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:38775501C>T	ENST00000308973.4	-	4	2316	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	TLR10_ENST00000508334.1_Missense_Mutation_p.E571K|TLR10_ENST00000506111.1_Missense_Mutation_p.E571K|TLR10_ENST00000361424.2_Missense_Mutation_p.E571K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	571	LRRCT.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAAGATAATTCGTGGAGATGA	0.438000													8	60					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194300	57194300	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:57194300C>T	ENST00000331162.4	-	3	435	c.166_splice	c.e3+1	p.L55_splice		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L55L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATCCTCACCCAGGGAGACCA	0.368000													6	75					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37571958	37571958	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:37571958G>A	ENST00000338415.3	+	1	242	c.84G>A	c.(82-84)ggG>ggA	p.G28G	QPCT_ENST00000537448.1_Silent_p.G28G	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	28					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CATCCAGGGGGGTCAGTCCGA	0.672000													5	23					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37310509	37310509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:37310509C>T	ENST00000356725.4	-	5	857	c.737G>A	c.(736-738)aGa>aAa	p.R246K	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTATGAATTCTCTTATGACC	0.353000													6	20					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3196257	3196257	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:3196257G>A	ENST00000398659.4	-	9	1138	c.998C>T	c.(997-999)tCg>tTg	p.S333L	TSSC1_ENST00000382125.4_Missense_Mutation_p.S306L|TSSC1_ENST00000478754.1_5'UTR			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	306							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GGGCTCCGACGAGATGGACAC	0.572000													6	40					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487730	248487730	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:248487730G>A	ENST00000317965.2	-	1	169	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGTAGATGAGGAGAACCATGA	0.527000													33	174					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325291	132325291	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:132325291C>T	ENST00000360564.1	+	4	698	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.P115L	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	199					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GACGGCTACCCCTTCGACGGC	0.677000													17	53					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230966	147230966	+	Silent	SNP	C	C	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:147230966C>G	ENST00000271348.2	-	2	542	c.381G>C	c.(379-381)gtG>gtC	p.V127V	GJA5_ENST00000369237.1_Silent_p.V127V	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	127					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCTTCTCTGCCACCGGGTACT	0.612000													14	65					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120360	94120360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:94120360G>A	ENST00000369303.4	-	3	875	c.691C>T	c.(691-693)Cga>Tga	p.R231*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.R231*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATGTCCCTCGAACCTCGACT	0.458000													7	29					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525721	248525721	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:248525721T>C	ENST00000366475.1	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGACTGTGGTCATCCTCTTC	0.537000													20	110					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31125283	31125283	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:31125283G>A	ENST00000396268.3	-	1	283	c.95C>T	c.(94-96)cCc>cTc	p.P32L	CCHCR1_ENST00000451521.2_Missense_Mutation_p.P32L|CCHCR1_ENST00000376266.5_Intron|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AAGGCCTGAGGGAAGCCCATC	0.607000													5	27					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72083623	72083623	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:72083623G>A	ENST00000355790.4	-	4	873	c.396C>T	c.(394-396)atC>atT	p.I132I	LRRC20_ENST00000373224.1_Silent_p.I132I|LRRC20_ENST00000395010.1_Intron|LRRC20_ENST00000358141.2_Silent_p.I82I|LRRC20_ENST00000395011.1_Silent_p.I82I	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	132										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						ACTCACCTACGATCTCGTTCT	0.637000													10	29					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371196	240371196	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	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)			TACCCGGAGCGGGCATACCCC	0.741000													3	12					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364772	133364772	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:133364772C>T	ENST00000372394.1	+	13	1372	c.891C>T	c.(889-891)atC>atT	p.I297I	ASS1_ENST00000352480.5_Silent_p.I297I|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.I297I			P00966	ASSY_HUMAN	argininosuccinate synthase 1	297					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATTTAGACATCGAGGCCTTCA	0.502000													13	101					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39466601	39466601	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:39466601G>A	ENST00000265707.5	+	4	274	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.E77K|ADAM18_ENST00000379866.1_Missense_Mutation_p.E77K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	77					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACATATAATGAAACTGGATC	0.244000													3	16					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3661109	3661109	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:3661109G>A	ENST00000263087.4	-	9	1009	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	304	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CATGACCTTGGATGCCTTTCT	0.532000													23	118					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33140809	33140809	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:33140809C>T	ENST00000375030.2	+	21	2194	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	C10orf68_ENST00000375025.4_Missense_Mutation_p.P631S|C10orf68_ENST00000375028.3_Missense_Mutation_p.P571S			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	567										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAGGGCTGGTCCAAGCTTTTC	0.328000													15	52					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760756	21760756	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:21760756C>T	ENST00000382254.1	-	13	2630	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.R515Q|CDH12_ENST00000522262.1_Missense_Mutation_p.R475Q	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	515	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAAGATCTCGGTCTGCAGC	0.408000										HNSCC(59;0.17)			12	67					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789865	59789865	+	Silent	SNP	G	G	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:59789865G>T	ENST00000395125.1	+	5	719	c.696G>T	c.(694-696)ctG>ctT	p.L232L	DAAM1_ENST00000351081.1_Silent_p.L232L|DAAM1_ENST00000360909.3_Silent_p.L232L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	232	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCGTGTGCCTGGTTCCCGGGG	0.537000													3	22					0.115264	0.115264	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10979981	10979981	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:10979981G>A	ENST00000254488.2	+	14	1858	c.1792G>A	c.(1792-1794)Ggc>Agc	p.G598S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	598					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GAAAATGCGGGGCAAGCTTGG	0.552000													14	52					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913440	77913440	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:77913440C>T	ENST00000321110.1	-	2	773	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	160	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGGGGGATCCTGGGGTTCT	0.562000													3	9					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41005017	41005017	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41005017C>T	ENST00000399564.4	-	36	4320	c.3870G>A	c.(3868-3870)atG>atA	p.M1290I	MROH2B_ENST00000506092.2_Missense_Mutation_p.M845I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGGTTCCTTCATGAGCTGAA	0.488000													4	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638752	179638752	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:179638752C>T	ENST00000589042.1	-	31	7367	c.7143G>A	c.(7141-7143)ttG>ttA	p.L2381L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.L2381L|TTN_ENST00000591111.1_Silent_p.L2381L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Silent_p.L2381L|TTN_ENST00000359218.5_Silent_p.L2335L|TTN_ENST00000460472.2_Silent_p.L2335L|TTN_ENST00000342175.6_Silent_p.L2335L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2104	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)			CCACACTTTCCAAGGAGACTT	0.473000													5	51					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961924	1961924	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:1961924C>T	ENST00000454677.2	-	2	812	c.747G>A	c.(745-747)ctG>ctA	p.L249L	HS3ST6_ENST00000293937.3_Silent_p.L232L|HS3ST6_ENST00000443547.1_Silent_p.L201L			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	201										endometrium(2)|lung(2)	4						GCCAGTGGTCCAGGTGCTGGG	0.726000													4	42					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409703	80409703	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:80409703G>A	ENST00000265080.4	+	15	2501	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	812					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCACGCGTGGATCTGTGTAA	0.488000													9	45					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714853	138714853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:138714853G>A	ENST00000389532.4	-	11	1718	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P563S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P274S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	552						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTGCTGGGGAACCACGTCT	0.607000													24	157					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70736559	70736559	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:70736559G>A	ENST00000370944.4	-	12	1788	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P457L|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	492					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGAAAGCCTGGAGGAAGCTT	0.303000													4	14					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95816686	95816686	+	Silent	SNP	A	A	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr13:95816686A>C	ENST00000376887.4	-	16	2235	c.2121T>G	c.(2119-2121)gcT>gcG	p.A707A	ABCC4_ENST00000536256.1_Silent_p.A632A|ABCC4_ENST00000431522.1_Silent_p.A707A|ABCC4_ENST00000412704.1_Intron	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	707					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AGTGAGCACCAGCTCTGAAGT	0.398000													8	27					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970516	160970516	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:160970516G>A	ENST00000368026.6	-	4	567	c.293C>T	c.(292-294)tCc>tTc	p.S98F	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	98	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCGTGTCACGGACTTGAAGGT	0.532000													11	72					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208227799	208227799	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:208227799G>A	ENST00000367033.3	-	14	3580	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	941	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTTCGTCATGAACTCTGGCT	0.587000													10	31					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574481	82574481	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:82574481T>C	ENST00000339465.5	+	3	344	c.275T>C	c.(274-276)cTt>cCt	p.L92P	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.L77P	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	92										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GCTTGGGACCTTCATAAAAGT	0.333000													7	58					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927048	130927048	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:130927048G>A	ENST00000261655.4	-	8	961	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RIMBP2_ENST00000536002.1_Silent_p.D174D|RIMBP2_ENST00000535703.1_Silent_p.D174D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	266						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGTGGAGGTCCAGGATGT	0.592000													15	60					0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125618506	125618506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:125618506C>T	ENST00000305738.5	+	5	271	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	PATE1_ENST00000437148.2_Missense_Mutation_p.P75S	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	87						extracellular region				large_intestine(1)|lung(5)	6						GGATGGTAATCCCTGGTTAAC	0.463000													5	20					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77236315	77236315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:77236315C>T	ENST00000167106.4	+	2	952	c.319C>T	c.(319-321)Ccg>Tcg	p.P107S	VASH1_ENST00000554237.1_Missense_Mutation_p.P107S|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	107					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATCCCCATACCGAGTGTGCC	0.592000													12	81					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641421	57641421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:57641421C>T	ENST00000254181.4	+	4	1832	c.1378C>T	c.(1378-1380)Caa>Taa	p.Q460*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Q460*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	460					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACCTGCACCAAGAAACAAA	0.358000													13	72					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463090	150463090	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:150463090C>T	ENST00000369064.3	+	4	435	c.401C>T	c.(400-402)tCc>tTc	p.S134F	TARS2_ENST00000438568.2_Intron|TARS2_ENST00000606933.1_Missense_Mutation_p.S134F|TARS2_ENST00000369054.2_Missense_Mutation_p.S134F	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	134					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTCTGGCACTCCAGCACCCAT	0.483000													13	47					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111147	7111147	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:7111147C>T	ENST00000306904.5	+	1	983	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	266	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTACGGAGGTCGCGACCGTGA	0.672000													4	51					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3769274	3769274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:3769274G>A	ENST00000381771.2	-	16	1634	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	CAMKK1_ENST00000348335.2_Missense_Mutation_p.S458F|CAMKK1_ENST00000158166.5_Missense_Mutation_p.S496F|CAMKK1_ENST00000381769.2_Missense_Mutation_p.S485F			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	458					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTTCCCAAAGGAACGCTTCCT	0.597000													6	20					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416587	113416587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:113416587G>T	ENST00000272542.3	+	7	1503	c.964G>T	c.(964-966)Gga>Tga	p.G322*	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	322					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ATTCAAACTTGGAGATTTGGA	0.502000													4	45					0.00909568	0.00913665	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75858109	75858109	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:75858109C>T	ENST00000322507.8	-	22	4561	c.4252G>A	c.(4252-4254)Gaa>Aaa	p.E1418K	COL12A1_ENST00000416123.2_Missense_Mutation_p.E1418K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E254K|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1418K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1418	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGATAGTATTCCACCTTATAT	0.433000													7	18					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698738	169698738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:169698738C>T	ENST00000333360.7	-	6	931	c.792G>A	c.(790-792)tgG>tgA	p.W264*	SELE_ENST00000367780.4_Nonsense_Mutation_p.W202*|SELE_ENST00000367776.1_Nonsense_Mutation_p.W264*|SELE_ENST00000367782.4_Nonsense_Mutation_p.W264*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.W264*|SELE_ENST00000367774.1_Nonsense_Mutation_p.W264*|SELE_ENST00000367777.1_Nonsense_Mutation_p.W264*|SELE_ENST00000367779.4_Nonsense_Mutation_p.W264*|SELE_ENST00000367775.1_Nonsense_Mutation_p.W202*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	264	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGGTTGTGTTCCATGGGAAGC	0.468000													14	64					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735446	54735446	+	Silent	SNP	G	G	A	rs150957238		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:54735446G>A	ENST00000306858.7	+	2	518	c.402G>A	c.(400-402)acG>acA	p.T134T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	134										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)					ATCTACTTACGATAAAAGAAA	0.373000													9	36					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367179	248367179	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:248367179G>A	ENST00000456743.1	+	1	848	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			CCCCAACACAGGACAAGATGG	0.488000													19	106					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33469070	33469070	+	Silent	SNP	A	A	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:33469070A>G	ENST00000442241.4	-	2	129	c.90T>C	c.(88-90)ggT>ggC	p.G30G	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.G30G	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	30						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGAACGGGGAACCCAGCAGCT	0.687000													5	13					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14851524	14851524	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrY:14851524T>A	ENST00000338981.3	+	12	2328	c.1383T>A	c.(1381-1383)ttT>ttA	p.F461L	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	461					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTGGGATTTTTCTCCTGGAC	0.328000													13	16					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187861	42187861	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:42187861C>T	ENST00000006724.3	-	3	762	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CEACAM7_ENST00000401731.1_Silent_p.L187L|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	187	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGGACTGACCAGGAGGCTCT	0.483000													20	75					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4042360	4042360	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:4042360G>A	ENST00000294016.3	-	5	2532	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F	ADCY9_ENST00000571889.1_Intron	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	665					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGTCCTCCAGAAGCCTGCCT	0.612000													4	36					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39545914	39545914	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:39545914C>T	ENST00000287152.7	-	10	1193	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	KIF6_ENST00000538893.1_Missense_Mutation_p.E367K|KIF6_ENST00000373213.4_Missense_Mutation_p.E206K|KIF6_ENST00000373216.3_Missense_Mutation_p.E367K|KIF6_ENST00000373215.3_Missense_Mutation_p.E367K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	367					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCTGGATTTCCTTTTGTAGG	0.453000													9	66					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915072	176915072	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:176915072C>T	ENST00000367654.2	-	13	2276	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	ASTN1_ENST00000367657.3_Missense_Mutation_p.G747R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G747R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G747R			O14525	ASTN1_HUMAN	astrotactin 1	755					cell migration|neuron cell-cell adhesion	integral to membrane		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGAATGTTCCTTTCAGCACC	0.443000													7	83					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569096	73569096	+	Splice_Site	SNP	T	T	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:73569096T>G	ENST00000392550.3	+	20	2579	c.2460_splice	c.e20-1	p.V821_splice	LLGL2_ENST00000577200.1_Splice_Site_p.V821_splice|LLGL2_ENST00000167462.5_Splice_Site_p.V821_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	821					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCCCCCAGGTGTTCACGCTG	0.657000													4	25					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36552187	36552187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:36552187C>T	ENST00000577233.1	+	9	1712	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	SOCS7_ENST00000331159.5_Missense_Mutation_p.S537F	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	571					intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CAGCTCATTTCCAAACAGAAG	0.498000													5	27					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428625	10428625	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:10428625C>T	ENST00000245503.5	-	33	4962	c.4578G>A	c.(4576-4578)ggG>ggA	p.G1526G	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.G1526G|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1526					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						GGATACGTTTCCCTCCTTCTG	0.398000													4	37					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22207041	22207041	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:22207041G>A	ENST00000374695.3	-	16	2089	c.2010C>T	c.(2008-2010)gtC>gtT	p.V670V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	670	Laminin IV type A 1.				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)	CAGACTCATGGACCCAGTGCT	0.642000													3	18					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35888299	35888299	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:35888299G>A	ENST00000373825.2	-	2	305	c.20C>T	c.(19-21)gCg>gTg	p.A7V	SRPK1_ENST00000423325.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	7					cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GGCCTGGAGCGCAAGCACTGC	0.587000													4	123					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164190	150164190	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:150164190G>A	ENST00000307271.3	+	2	978	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	135						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R135Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCTTCACTCGGAAGGATGAT	0.468000													10	23					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770108	112770108	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:112770108G>A	ENST00000390666.3	-	1	620	c.429C>T	c.(427-429)ctC>ctT	p.L143L	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	143	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CCTTGTCAAGGAGAAGGTTGT	0.542000													7	31					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													4	12					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209188	193209188	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:193209188C>T	ENST00000342695.4	-	6	856		c.e6-1		ATP13A4_ENST00000392443.3_Splice_Site|ATP13A4_ENST00000295548.3_Splice_Site	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4						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)		TATTAACCTCCTATAGAAAGA	0.358000													7	35					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922731	24922731	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:24922731C>T	ENST00000329468.2	+	1	2191	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCGGTAGACCCTGAAGTAGT	0.463000													13	52					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36651786	36651786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:36651786C>T	ENST00000543751.1	+	11	1014	c.869C>T	c.(868-870)gCc>gTc	p.A290V	MELK_ENST00000536860.1_Missense_Mutation_p.A274V|MELK_ENST00000298048.2_Missense_Mutation_p.A322V|MELK_ENST00000545008.1_Missense_Mutation_p.A251V|MELK_ENST00000541717.1_Missense_Mutation_p.A322V|MELK_ENST00000538311.1_Missense_Mutation_p.A128V|MELK_ENST00000536987.1_Missense_Mutation_p.A191V|MELK_ENST00000536329.1_Missense_Mutation_p.A251V	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	322						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CTGCTTCTAGCCAAGAAGGCT	0.428000													33	152					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	22					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101156461	101156461	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:101156461G>A	ENST00000259455.2	-	9	1833	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	458					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCTTACCTTGGAACCTGATGG	0.572000													7	26					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:6690673G>A	ENST00000321535.4	+	4	1385	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	419										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418000													7	26					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084500	58084500	+	Silent	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:58084500T>C	ENST00000357272.4	+	8	1375	c.1210T>C	c.(1210-1212)Ttg>Ctg	p.L404L	FLNB_ENST00000358537.3_Silent_p.L404L|FLNB_ENST00000490882.1_Silent_p.L404L|FLNB_ENST00000295956.4_Silent_p.L404L|FLNB_ENST00000429972.2_Silent_p.L404L|FLNB_ENST00000493452.1_Silent_p.L235L|FLNB_ENST00000419752.2_Silent_p.L235L|FLNB_ENST00000348383.5_Silent_p.L404L			O75369	FLNB_HUMAN	filamin B, beta	404					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACCGTGGAGTTGCTCGTGGA	0.532000													8	45					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765443	18765443	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:18765443C>T	ENST00000304081.4	-	5	902	c.802G>A	c.(802-804)Gag>Aag	p.E268K	NT5C1B_ENST00000359846.2_Missense_Mutation_p.E328K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E328K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E328K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											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)				CCCTCTTGCTCGTAGATTTTC	0.552000													25	77					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67457361	67457361	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:67457361C>T	ENST00000327367.4	+	2	645	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SMAD3_ENST00000559092.1_Missense_Mutation_p.P94S|SMAD3_ENST00000439724.3_Missense_Mutation_p.A68V|SMAD3_ENST00000540846.2_Missense_Mutation_p.A7V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	112	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TGTGAGTTCGCCTTCAATATG	0.592000													13	81					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30302607	30302607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:30302607C>T	ENST00000322652.5	+	7	927	c.698C>T	c.(697-699)tCc>tTc	p.S233F	SUZ12_ENST00000580398.1_Missense_Mutation_p.S210F	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	233					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTTGCAGTTTCCAGTAATGAA	0.418000			T	JAZF1	endometrial stromal tumours								11	37					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486228	41486228	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:41486228C>T	ENST00000359345.1	-	1	2681	c.105G>A	c.(103-105)acG>acA	p.T35T	SLFNL1_ENST00000397197.2_Silent_p.T35T|SLFNL1_ENST00000372613.2_Silent_p.T35T|SLFNL1_ENST00000439569.2_Silent_p.T35T|SLFNL1_ENST00000302946.8_Silent_p.T35T|SLFNL1_ENST00000372611.1_Silent_p.T35T	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	35							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGAGTACTCCGTCAGGGACT	0.622000													9	48					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415173	46415173	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:46415173C>T	ENST00000343801.4	+	3	1137	c.780C>T	c.(778-780)ttC>ttT	p.F260F	CCR5_ENST00000292303.4_Silent_p.F260F|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.F260F	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	260					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGAACACCTTCCAGGAATTCT	0.473000													30	189					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17085910	17085910	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:17085910G>A	ENST00000377833.4	-	26	3810	c.3745C>T	c.(3745-3747)Cgt>Tgt	p.R1249C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1249	CUB 7.				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)	CCACTAGAACGAATAAGAGGG	0.428000													10	22					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117633178	117633178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:117633178C>T	ENST00000369466.3	+	15	2565	c.2521C>T	c.(2521-2523)Cag>Tag	p.Q841*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	841					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCGTAAATTTCAGTTGCACCA	0.368000													7	20					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020509	167020509	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:167020509G>A	ENST00000061240.2	+	20	3384	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	TLL1_ENST00000507499.1_Missense_Mutation_p.G936R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	913	CUB 5.				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)		CAACTACCCAGGACAGGTTGA	0.448000													21	69					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643703	64643703	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:64643703C>T	ENST00000371079.1	+	9	2354	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	ROR1_ENST00000545203.1_Missense_Mutation_p.P111L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	660	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CGCTGGATGCCCCCTGAAGCC	0.458000													5	36					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137339517	137339517	+	Silent	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:137339517T>C	ENST00000424189.2	-	5	928	c.699A>G	c.(697-699)aaA>aaG	p.K233K	DGKI_ENST00000288490.5_Silent_p.K233K|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.K233K			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	233					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAAATGTTGGTTTACATCTGA	0.323000													5	22					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167642176	167642176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:167642176C>T	ENST00000519204.1	+	20	3732	c.3614C>T	c.(3613-3615)tCg>tTg	p.S1205L	TENM2_ENST00000520394.1_Missense_Mutation_p.S1087L|TENM2_ENST00000545108.1_Missense_Mutation_p.S1325L|TENM2_ENST00000403607.2_Missense_Mutation_p.S1150L|TENM2_ENST00000518659.1_Missense_Mutation_p.S1326L					teneurin transmembrane protein 2																		GCTGGGAATTCGGAAGTTGTG	0.592000													11	59					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619604	52619604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr10:52619604G>A	ENST00000282641.2	-	3	284	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373997.3_Nonsense_Mutation_p.Q33*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Q33*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Q33*|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000374001.1_Nonsense_Mutation_p.Q33*	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	33					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTCCTACCTGGACCAAGCTA	0.498000													6	21					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71410896	71410896	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:71410896G>A	ENST00000392650.3	-	18	2371	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	SDK2_ENST00000388726.3_Missense_Mutation_p.P791S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	791	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGACCGTGGGAACTAGAGGA	0.612000													8	30					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497481	50497481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr15:50497481G>A	ENST00000267842.5	+	4	1125	c.893G>A	c.(892-894)tGg>tAg	p.W298*	SLC27A2_ENST00000544960.1_Nonsense_Mutation_p.W63*|SLC27A2_ENST00000380902.4_Nonsense_Mutation_p.W245*	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	298					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGCCAGTTTTGGGATGACTGC	0.438000													6	58					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770069	38770069	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:38770069G>A	ENST00000449082.2	-	15	2603	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	868					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)	TCAAGAAAAGGATGAGGCATA	0.517000													9	21					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313733	41313733	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41313733C>T	ENST00000377801.3	-	3	1026	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.E318K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	318					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						GTGTTGGCTTCTCCTTCATCA	0.403000													6	32					0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873639	20873639	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:20873639A>C	ENST00000324344.3	-	2	507	c.222T>G	c.(220-222)gaT>gaG	p.D74E	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.D74E|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	74					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCCTCCCAGCATCTCCCGAGG	0.572000													11	120					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123395	40123395	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:40123395C>T	ENST00000261435.6	+	9	4080	c.3664C>T	c.(3664-3666)Ccc>Tcc	p.P1222S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1222						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAGTATATTTCCCAGTGCTGC	0.413000													9	56					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300222	10300222	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:10300222C>T	ENST00000403437.2	-	31	4354	c.4260G>A	c.(4258-4260)acG>acA	p.T1420T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCGCTGCTTCGTCTTCTCAA	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				12	34					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28622457	28622457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr13:28622457C>T	ENST00000380982.4	-	9	1241	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	FLT3_ENST00000537084.1_Missense_Mutation_p.R387Q|FLT3_ENST00000241453.7_Missense_Mutation_p.R387Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	387					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)	AAATGATTTTCGAGAGAAGGT	0.373000			"""Mis, O"""		"""AML, ALL"""								8	56					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044741	56044741	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:56044741C>T	ENST00000244728.5	-	3	672	c.275G>A	c.(274-276)gGa>gAa	p.G92E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G92E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G92E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	92	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)			ATCATAGCTTCCGAGAGGAAT	0.448000													6	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049206	9049206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:9049206G>A	ENST00000397910.4	-	5	32628	c.32425C>T	c.(32425-32427)Cga>Tga	p.R10809*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10811	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						GTCAGAGCTCGATTAGTTGTA	0.498000													12	79					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205818	43205818	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr18:43205818C>T	ENST00000255226.6	+	3	1137	c.321C>T	c.(319-321)atC>atT	p.I107I	SLC14A2_ENST00000586448.1_Silent_p.I107I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	107						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTACAGGATCTGGCTGAAAG	0.592000													3	14					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155495	38155495	+	Silent	SNP	C	C	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr22:38155495C>G	ENST00000407319.2	+	8	1267	c.1257C>G	c.(1255-1257)ccC>ccG	p.P419P	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000406386.3_Intron	NM_138632.2	NP_619538.2	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	54					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					gtgacttgcccaaggtcaccc	0.572000													7	45					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38287422	38287422	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:38287422G>A	ENST00000341462.5	-	3	1077	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	FGFR1_ENST00000425967.3_Missense_Mutation_p.H79Y|FGFR1_ENST00000397113.2_Missense_Mutation_p.H46Y|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Missense_Mutation_p.H46Y|FGFR1_ENST00000532791.1_Missense_Mutation_p.H46Y|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000447712.2_Missense_Mutation_p.H46Y|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000335922.5_Missense_Mutation_p.H38Y|FGFR1_ENST00000397091.5_Missense_Mutation_p.H46Y			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	46	Ig-like C2-type 1.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCACCGGGGTGGACCAGGAAG	0.682000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						3	22					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282893	59282893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:59282893G>A	ENST00000329328.3	+	1	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTTTCTGTGGACCCAATGT	0.532000													8	72					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2773086	2773086	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:2773086C>T	ENST00000381163.3	+	6	752	c.470C>T	c.(469-471)cCg>cTg	p.P157L	GYG2_ENST00000542787.1_Missense_Mutation_p.P157L|GYG2_ENST00000338623.5_Missense_Mutation_p.P157L|GYG2_ENST00000398806.3_Missense_Mutation_p.P126L|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	157					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				TCTGCGGCCCCGGACCCCGGA	0.557000													16	38					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978438	11978438	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:11978438C>T	ENST00000304030.2	+	3	754	c.554C>T	c.(553-555)cCc>cTc	p.P185L	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.P49L	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGAAAGAAACCCTATGCTTGT	0.393000													12	53					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17153524	17153524	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:17153524C>T	ENST00000357277.3	+	16	1974	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	REPS2_ENST00000303843.7_Silent_p.V600V|REPS2_ENST00000380064.4_Silent_p.V400V|REPS2_ENST00000469714.1_3'UTR	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	601	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					ATCCAACAGTCCAAAAGTAAG	0.473000													17	33					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196682875	196682875	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:196682875C>T	ENST00000367429.4	+	10	1587	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	449	Sushi 8.				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						AAACATGTTCCAAATCAAGTA	0.249000													7	11					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648636	130648636	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:130648636C>T	ENST00000539839.1	+	1	1633	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	FZD10_ENST00000229030.4_Silent_p.V383V	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCACCGGGGTCTGCTACGTGG	0.652000													11	53					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727018	73727018	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:73727018C>T	ENST00000200181.3	+	9	1252	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ITGB4_ENST00000449880.2_Silent_p.I355I|ITGB4_ENST00000579662.1_Silent_p.I355I|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.I355I|ITGB4_ENST00000450894.3_Silent_p.I355I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	355					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)			CGTCCAACATCGTGGAGCTGC	0.612000													18	83					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987133	215987133	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:215987133C>T	ENST00000366943.2	-	49	10070	c.9684G>A	c.(9682-9684)caG>caA	p.Q3228Q	USH2A_ENST00000307340.3_Silent_p.Q3228Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3228					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)		GTTGTGCCTCCTGTATTCGGC	0.453000										HNSCC(13;0.011)			21	50					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438142	58438142	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:58438142G>A	ENST00000396147.1	-	4	1698	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	ZNF418_ENST00000599852.1_Silent_p.L384L|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.L490L|ZNF418_ENST00000595830.1_Silent_p.L469L	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GGTGTTCAATGAGGTGGGACT	0.458000													15	78					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383918	108383918	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:108383918G>A	ENST00000265843.4	-	6	2426	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	EXPH5_ENST00000525344.1_Silent_p.V765V|EXPH5_ENST00000428840.1_Silent_p.V696V|EXPH5_ENST00000443411.1_Silent_p.V584V	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	772					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCTGGAAAAGACTCTGGGTG	0.373000													14	58					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41061770G>A	ENST00000399564.4	-	6	967	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTGGGGTAGGGAAAATCTCTC	0.448000													6	42					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243768	43243768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr18:43243768C>T	ENST00000255226.6	+	11	2186	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P457L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	457						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGGAGCATCCACCCACAGCA	0.587000													4	19					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	31					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573845	48573845	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:48573845G>A	ENST00000232375.3	-	8	796	c.684C>T	c.(682-684)aaC>aaT	p.N228N	PFKFB4_ENST00000383734.2_Silent_p.N228N|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Silent_p.N194N|PFKFB4_ENST00000536104.1_Silent_p.N217N|PFKFB4_ENST00000416568.1_Silent_p.N228N|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	228	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCCACACGGTTCACCACGT	0.572000													17	87					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459496	122459496	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:122459496A>G	ENST00000306103.2	-	8	1306	c.1163T>C	c.(1162-1164)tTt>tCt	p.F388S	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	388						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ATCAGGGCCAAAGGGACTTGC	0.498000													15	117					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box.				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						GGGCAAAAATCGCTGGGCACA	0.428000													9	62					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45797952	45797952	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:45797952G>A	ENST00000450313.1	-	10	1034	c.819C>T	c.(817-819)gcC>gcT	p.A273A	MUTYH_ENST00000372100.5_Silent_p.A256A|MUTYH_ENST00000372104.1_Silent_p.A245A|MUTYH_ENST00000372110.3_Silent_p.A260A|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Silent_p.A246A|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Silent_p.A245A|MUTYH_ENST00000448481.1_Silent_p.A256A|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Silent_p.A259A|MUTYH_ENST00000372098.3_Silent_p.A270A|MUTYH_ENST00000355498.2_Silent_p.A245A	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	270					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	p.A270A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCCTGGCCGGGCTGGGTCCA	0.612000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				6	27					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49723650	49723650	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:49723650C>T	ENST00000551245.1	+	12	1286	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	TROAP_ENST00000547923.1_Missense_Mutation_p.A100V|TROAP_ENST00000257909.3_Missense_Mutation_p.A392V			Q12815	TROAP_HUMAN	trophinin associated protein	392					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAGCAGGTTGCCGTCCGGTTG	0.567000													22	108					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794105	13794105	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:13794105C>T	ENST00000265104.4	-	48	8054	c.7950G>A	c.(7948-7950)aaG>aaA	p.K2650K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2650	AAA 3 (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)					CAGTCATCTTCTTTCCCGCAG	0.358000									Kartagener syndrome				13	26					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2																						CAGGCCTGCACGACTCTGCGA	0.537000													3	37					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150903121	150903121	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:150903121C>T	ENST00000474524.1	+	11	1537	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	MED12L_ENST00000422248.2_Missense_Mutation_p.A500V|MED12L_ENST00000273432.4_Missense_Mutation_p.A360V|MED12L_ENST00000309237.4_Missense_Mutation_p.A500V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	500					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.A500V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATTAGGTTGCGCCCAACGAT	0.517000													4	42					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271564	22271564	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:22271564C>T	ENST00000594947.1	+	4	1156	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGATGATTCATACTGGAGA	0.403000													6	23					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303725	171303725	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:171303725C>T	ENST00000367749.3	+	8	1333	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	335					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCTTTTCCATTTTTTGA	0.363000													11	40					0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55026970	55026970	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:55026970C>A	ENST00000257867.4	-	2	159	c.106G>T	c.(106-108)Ggg>Tgg	p.G36W	LACRT_ENST00000547511.1_Missense_Mutation_p.G36W	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	36					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TCACAGGTCCCAGCTTCCTGG	0.587000													15	137					4.7546e-09	4.84145e-09	1	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802784	31802784	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:31802784C>T	ENST00000334068.2	+	1	213	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	64	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TGCCAGAAATCCTGCTACCGC	0.612000													5	48					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140246656	140246656	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:140246656G>A	ENST00000275884.6	-	12	2538	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	DENND2A_ENST00000537639.1_Silent_p.F707F|DENND2A_ENST00000496613.1_Silent_p.F707F|DENND2A_ENST00000492720.1_Silent_p.F707F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	707	DENN.							p.F707F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCAGGGCTGGGAAAGGGGCTT	0.537000													4	19					0	0	1	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211006	107211006	+	RNA	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:107211006C>T	ENST00000390636.2	-	0	362																											TTCTTTGAATCATCTCTGGAG	0.507000													24	78					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	20					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3639990	3639990	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:3639990T>A	ENST00000378295.4	+	6	844	c.689T>A	c.(688-690)gTc>gAc	p.V230D	TP73_ENST00000604479.1_Missense_Mutation_p.V230D|TP73_ENST00000378280.1_Missense_Mutation_p.V181D|TP73_ENST00000354437.4_Missense_Mutation_p.V230D|TP73_ENST00000603362.1_Missense_Mutation_p.V230D|TP73_ENST00000604074.1_Missense_Mutation_p.V230D|TP73_ENST00000378285.1_Missense_Mutation_p.V181D|TP73_ENST00000378288.4_Missense_Mutation_p.V181D|TP73_ENST00000357733.3_Missense_Mutation_p.V230D|TP73_ENST00000378290.4_Missense_Mutation_p.V159D|TP73_ENST00000346387.4_Missense_Mutation_p.V230D	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	230	DNA-binding (Potential).				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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GATGACCCTGTCACCGGCAGG	0.642000													4	16					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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				6	40					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20000654	20000654	+	Silent	SNP	A	A	G			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr13:20000654A>G	ENST00000400230.2	-	18	1350	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	TPTE2_ENST00000382978.1_Silent_p.L396L|TPTE2_ENST00000382977.4_Silent_p.L436L|TPTE2_ENST00000400103.2_Silent_p.L325L|TPTE2_ENST00000255310.6_Silent_p.L359L|TPTE2_ENST00000457266.2_Silent_p.L325L|TPTE2_ENST00000382975.4_Silent_p.L396L|TPTE2_ENST00000390680.2_Silent_p.L359L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	436	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)		ATGTCATGCAATATCTATGAA	0.328000													3	38					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480520	181480520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:181480520C>T	ENST00000526775.1	+	3	551	c.386C>T	c.(385-387)cCt>cTt	p.P129L	CACNA1E_ENST00000367573.2_Missense_Mutation_p.P129L|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P80L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P129L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P129L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P80L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	129					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						AAGACAGAACCTTATTTCATT	0.502000													21	143					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347692	38347692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:38347692G>A	ENST00000273173.4	+	1	266	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	SLC22A14_ENST00000448498.1_Missense_Mutation_p.V59M	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	59						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTGGATGCGGTGGGGGAGTT	0.537000													8	55					0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24122672	24122672	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr22:24122672C>T	ENST00000215743.3	+	3	517	c.465C>T	c.(463-465)atC>atT	p.I155I	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	155					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GTGCTGACATCATGATCGACT	0.637000													8	49					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542579	182542579	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:182542579C>T	ENST00000295108.3	-	2	1466	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	337					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAATGGCTATCGAAGGACATA	0.532000													13	69					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116710	161116710	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:161116710G>A	ENST00000523217.1	+	6	810	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	GABRA6_ENST00000274545.5_Missense_Mutation_p.E200K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	200					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGTCCCAGAAGAATCTTC	0.338000										TCGA Ovarian(5;0.080)			4	27					0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141008818	141008818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:141008818G>A	ENST00000305264.3	-	7	611	c.532C>T	c.(532-534)Caa>Taa	p.Q178*		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	178	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	AAAGCTTCTTGAACCCCGTCA	0.512000													5	25					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132512040	132512040	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr12:132512040C>T	ENST00000333577.4	+	27	5290	c.5181C>T	c.(5179-5181)gcC>gcT	p.A1727A	EP400_ENST00000389562.2_Silent_p.A1690A|EP400_ENST00000330386.6_Silent_p.A1610A|EP400_ENST00000389561.2_Silent_p.A1691A|EP400_ENST00000332482.4_Silent_p.A1654A			Q96L91	EP400_HUMAN	E1A binding protein p400	1727					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGGAACGGCCTCCAAACCAG	0.577000													6	22					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464494	10464494	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:10464494G>A	ENST00000382483.3	-	4	7337	c.7114C>T	c.(7114-7116)Cta>Tta	p.L2372L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2372					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)		TCCTCTTGTAGGTCATAACCT	0.552000													13	58					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789868	59789868	+	Silent	SNP	T	T	C			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr14:59789868T>C	ENST00000395125.1	+	5	722	c.699T>C	c.(697-699)gtT>gtC	p.V233V	DAAM1_ENST00000351081.1_Silent_p.V233V|DAAM1_ENST00000360909.3_Silent_p.V233V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	233	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGTGCCTGGTTCCCGGGGGCC	0.532000													3	23					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778965	84778965	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:84778965C>T	ENST00000219473.7	+	4	991	c.878C>T	c.(877-879)tCg>tTg	p.S293L	USP10_ENST00000570191.1_Missense_Mutation_p.S297L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	293					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTTGAATCCTCGGGTGAGGGC	0.557000													6	27					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949528	45949528	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:45949528G>A	ENST00000531526.1	+	12	1773	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	GYLTL1B_ENST00000325468.5_Silent_p.P554P|GYLTL1B_ENST00000529052.1_Silent_p.P523P|GYLTL1B_ENST00000536139.1_Silent_p.P523P|GYLTL1B_ENST00000401752.1_Silent_p.P554P	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	554					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGTGGTGCCGGCATTCGAGA	0.642000													5	38					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45509063	45509063	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:45509063G>A	ENST00000359600.5	-	6	1642	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	479							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTCTGGATAAGGAGTCTGGAG	0.458000													11	35					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937383	6937383	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:6937383G>A	ENST00000312053.4	+	19	2548	c.2511G>A	c.(2509-2511)ggG>ggA	p.G837G	EMR1_ENST00000450315.3_Silent_p.G660G|EMR1_ENST00000381404.4_Silent_p.G818G|EMR1_ENST00000381407.5_Silent_p.G696G|EMR1_ENST00000250572.8_Silent_p.G772G	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	837					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)					GCCTGCAGGGGGCCTTCATCT	0.602000													16	53					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948940	198948940	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:198948940G>A	ENST00000428675.1	+	2	1097	c.699G>A	c.(697-699)gaG>gaA	p.E233E	PLCL1_ENST00000437704.2_Silent_p.E135E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	233					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTTTATGGAGGGCAACCAGA	0.473000													13	42					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45797951	45797951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:45797951G>A	ENST00000450313.1	-	10	1035	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	MUTYH_ENST00000372100.5_Missense_Mutation_p.R257W|MUTYH_ENST00000372104.1_Missense_Mutation_p.R246W|MUTYH_ENST00000372110.3_Missense_Mutation_p.R261W|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.R247W|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.R246W|MUTYH_ENST00000448481.1_Missense_Mutation_p.R257W|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.R260W|MUTYH_ENST00000372098.3_Missense_Mutation_p.R271W|MUTYH_ENST00000355498.2_Missense_Mutation_p.R246W	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	271					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCTCCTGGCCGGGCTGGGTCC	0.612000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				7	26					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164371	150164371	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:150164371G>A	ENST00000307271.3	+	2	1159	c.585G>A	c.(583-585)acG>acA	p.T195T		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	195						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGTGAATACGAACGGAGGAC	0.423000													13	50					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041863	14041863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:14041863C>T	ENST00000311895.7	+	11	2419	c.2410C>T	c.(2410-2412)Ccc>Tcc	p.P804S		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	804	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTCTGGTGCCCCTCTCCTCA	0.512000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	32					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561163	41561163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr21:41561163G>A	ENST00000400454.1	-	12	2836	c.2359C>T	c.(2359-2361)Cct>Tct	p.P787S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	787	Ig-like C2-type 9.				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)				ATCATCGCAGGAACTGAAAAA	0.468000													5	32					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570874	71570874	+	Silent	SNP	A	A	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:71570874A>T	ENST00000338482.5	+	3	637	c.294A>T	c.(292-294)atA>atT	p.I98I	CHST4_ENST00000572450.1_Silent_p.I98I|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Silent_p.I98I			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	98					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGGATCTGATACGGGCCGTCT	0.592000													10	43					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129658543	129658543	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:129658543G>A	ENST00000358303.4	-	10	1554	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Silent_p.F469F|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Silent_p.F447F|ZC3HC1_ENST00000360708.5_Silent_p.F419F	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	490					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GAAATATTCGGAATACTTTCC	0.393000													9	67					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69028072	69028072	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:69028072G>T	ENST00000288368.4	+	26	3508	c.3231G>T	c.(3229-3231)aaG>aaT	p.K1077N		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	1077					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						ACAATGAGAAGGGAGAAAGAA	0.388000													7	44					1.26484e-09	1.29386e-09	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101812152	101812152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:101812152C>T	ENST00000375001.3	+	30	3302	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	960	Nonhelical region 6 (NC6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCCAATACCCGTCCGACCA	0.498000													10	71					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151921636	151921636	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr7:151921636C>T	ENST00000355193.2	-	19	3260	c.3042G>A	c.(3040-3042)ggG>ggA	p.G1014G	KMT2C_ENST00000262189.6_Silent_p.G1014G					lysine (K)-specific methyltransferase 2C																		CAGTTGCCTTCCCACAGGCCT	0.473000													5	14					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41529904	41529904	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr8:41529904G>A	ENST00000396942.1	-	38	5147	c.5064C>T	c.(5062-5064)acC>acT	p.T1688T	ANK1_ENST00000289734.7_Silent_p.T1688T|ANK1_ENST00000396945.1_Silent_p.T1688T|ANK1_ENST00000265709.8_Silent_p.T1729T|ANK1_ENST00000379758.2_Silent_p.T1688T|ANK1_ENST00000352337.4_Silent_p.T1688T|ANK1_ENST00000347528.4_Silent_p.T1688T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1688	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)			CCTGACTCACGGTGGGGGAAT	0.567000													13	57					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203186139	203186139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:203186139G>A	ENST00000367229.1	-	11	1313	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.L418F|CHIT1_ENST00000255427.3_Missense_Mutation_p.L408F	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	427	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTGGGATAGAGCCCATCAGCT	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	70					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47788478	47788478	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr18:47788478G>A	ENST00000398545.4	-	2	298	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	61										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCTTTCAAGCGATCCCGCTCA	0.468000													9	52					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322705	5322705	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr11:5322705G>A	ENST00000380224.1	-	1	521	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGTGAAAGAATTATGGGC	0.453000													4	38					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170502561	170502561	+	Silent	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:170502561C>T	ENST00000447353.1	-	9	1554	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TTGTTGTTTCCGATTCAAGTT	0.413000													19	86					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38179446	38179446	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:38179446G>A	ENST00000394126.1	-	19	2681	c.2263C>T	c.(2263-2265)Cac>Tac	p.H755Y	MED24_ENST00000394127.2_Missense_Mutation_p.H717Y|MED24_ENST00000356271.3_Missense_Mutation_p.H717Y|MED24_ENST00000394128.2_Missense_Mutation_p.H730Y|MED24_ENST00000501516.3_Missense_Mutation_p.H749Y			O75448	MED24_HUMAN	mediator complex subunit 24	730					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TCAAAGATGTGGATGGAGCGG	0.592000													10	37					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027666	37027666	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chrX:37027666C>T	ENST00000358047.3	+	1	1235	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	395										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGACCCCCAAGAATGG	0.612000													10	26					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5735093	5735093	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:5735093G>A	ENST00000382674.2	+	5	817	c.633G>A	c.(631-633)ctG>ctA	p.L211L	EVC_ENST00000509451.1_Silent_p.L211L|EVC_ENST00000264956.6_Silent_p.L211L			P57679	EVC_HUMAN	Ellis van Creveld syndrome	211					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACGTTGACCTGTGTATCTACA	0.443000													36	214					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400118	138400118	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr2:138400118C>A	ENST00000409968.1	+	21	4038	c.3860C>A	c.(3859-3861)cCc>cAc	p.P1287H	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P1290H|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1259H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCCATGCCCCACAGAGCTT	0.502000													10	67					3.07112e-06	3.113e-06	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603012	111603012	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr3:111603012G>A	ENST00000431670.2	+	2	499	c.88G>A	c.(88-90)Gat>Aat	p.D30N	PHLDB2_ENST00000478922.1_Missense_Mutation_p.D30N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D30N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D30N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D57N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D30N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D30N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	30						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						TGTTGAGAACGATTCCCAAAA	0.418000													15	92					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5927180	5927180	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr20:5927180C>T	ENST00000203001.2	-	2	259		c.e2-1		TRMT6_ENST00000473131.1_Splice_Site|TRMT6_ENST00000453074.2_Splice_Site	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)						regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AGTTACTTTTCTAGGGAAAAA	0.373000													7	15					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574755	22574755	+	Missense_Mutation	SNP	G	G	A	rs74170714		TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr19:22574755G>A	ENST00000357774.5	-	4	1403	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCTCCAGTATGAATTCTCTTA	0.373000													3	20					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757907	156757907	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr4:156757907G>A	ENST00000537611.2	-	8	1215	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	390						integral to membrane|plasma membrane											ACTTGGAAAAGAGGAATAAGA	0.343000													5	35					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730651	140730651	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr5:140730651C>T	ENST00000523390.1	+	1	824	c.824C>T	c.(823-825)aCc>aTc	p.T275I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGATCACCTATGCCTTC	0.493000													8	64					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538520	58538520	+	Silent	SNP	G	G	A			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr16:58538520G>A	ENST00000394282.4	+	7	902	c.495G>A	c.(493-495)gtG>gtA	p.V165V	NDRG4_ENST00000258187.5_Silent_p.V145V|NDRG4_ENST00000356752.4_Silent_p.V143V|NDRG4_ENST00000569923.1_Silent_p.V58V|NDRG4_ENST00000568640.1_Silent_p.V131V|NDRG4_ENST00000394279.2_Silent_p.V145V|NDRG4_ENST00000570248.1_Silent_p.V113V|NDRG4_ENST00000563799.1_Silent_p.V131V|NDRG4_ENST00000562999.1_Silent_p.V113V|NDRG4_ENST00000566192.1_Silent_p.V113V	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	113					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCATCGGAGTGGGCGCCGGAG	0.592000													6	61					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970	by1000genomes	TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENST00000314675.7	-	11	1229_1252	c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1150-1173)del	p.GPGPGPSP384del	UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	504						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													6	7	---	---	---	---					
TIE1	7075	broad.mit.edu	37	1	43779573	43779573	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr1:43779573delA	ENST00000372476.3	+	14	2422	c.2343delA	c.(2341-2343)ttfs	p.L781fs	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Frame_Shift_Del_p.L426fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	781					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCCTTTTAACCCTGGTGT	0.642													7	63	---	---	---	---					
PRRT1	80863	broad.mit.edu	37	6	32118562	32118564	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr6:32118562_32118564delGTG	ENST00000211413.5	-	2	263_265	c.139_141delCAC	c.(139-141)del	p.H47del	PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	47	Poly-His.			H -> Y (in Ref. 1; BAB70821).	response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						ACtgatggtagtggtggtggtgg	0.700													3	3	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139231460	139231460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr9:139231460delC	ENST00000440944.1	+	4	729	c.509delC	c.(508-510)gcfs	p.A170fs	GPSM1_ENST00000392945.3_Frame_Shift_Del_p.A170fs	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	170	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCCGCAAACGCCACGCAGGAC	0.667													2	4	---	---	---	---					
GSDMB	55876	broad.mit.edu	37	17	38061748	38061749	+	Splice_Site	DEL	CT	CT	-			TCGA-EB-A44N-01A-11D-A25O-08	TCGA-EB-A44N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C3D62038-9115-46D3-8013-EABF182A62C0	890B643C-B77F-4FF4-8A4B-C0BA51F8CF86	g.chr17:38061748_38061749delCT	ENST00000394175.2	-	7	1185_1186	c.961_splice	c.e7-1	p.E321_splice	GSDMB_ENST00000360317.3_Splice_Site_p.E343_splice|GSDMB_ENST00000520542.1_Splice_Site_p.E334_splice|GSDMB_ENST00000309481.7_Splice_Site_p.E330_splice|GSDMB_ENST00000418519.1_Splice_Site_p.E343_splice|GSDMB_ENST00000394179.1_Splice_Site_p.E338_splice	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	338						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTCAGACAGCTCTGGGGGCAA	0.540													2	4	---	---	---	---