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
GOLGA1	2800	broad.mit.edu	37	9	127651460	127651460	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr9:127651460G>A	uc004bpc.3	-	17	2065	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	575						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAATGGGCCCCGCAGC	0.647000													5	87					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400935	78400935	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr12:78400935A>C	uc001syp.3	+	7	1790	c.1617A>C	c.(1615-1617)caA>caC	p.Q539H	NAV3_uc001syo.3_Missense_Mutation_p.Q539H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	539						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTAAAGCAAACCATTTCAC	0.468000										HNSCC(70;0.22)			6	48					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56597934	56597934	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:56597934A>G	uc003dhz.3	+	3	412	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.K75E|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Missense_Mutation_p.K109E	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	109										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCATATCCAGAAAGAGATTTC	0.358000													4	22					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106108793	106108793	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:106108793G>A	uc004emo.3	+	14	2522	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	786						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAAAGTTGCGTGTTGTATCA	0.303000													6	65					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52084880	52084880	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:52084880G>A	uc003dct.3	-	2	1290	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M		NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	404					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.T353M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGGTGGGCGTGGAAAAGTA	0.622000													3	53					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47110844	47110844	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:47110844T>C	uc001cqh.3	-	6	778	c.673A>G	c.(673-675)Ata>Gta	p.I225V	ATPAF1_uc009vyk.3_Missense_Mutation_p.I74V|ATPAF1_uc010omg.2_Missense_Mutation_p.I137V|ATPAF1_uc001cqi.3_Intron	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TGAATATTTATAAGTGCAGTG	0.443000													48	117					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928233	92928233	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:92928233C>T	uc004efq.3	-	0	450	c.71G>A	c.(70-72)aGc>aAc	p.S24N	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	24	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACTAGTCGAGCTAGCCATCTC	0.542000													23	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598614	179598614	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:179598614G>T	uc021vsy.1	-	49	11995	c.11770C>A	c.(11770-11772)Cca>Aca	p.P3924T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P585T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4851							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)			ACAAAGGTTGGAGGTTCTAGT	0.368000													6	34					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125476246	125476246	+	Silent	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr11:125476246C>T	uc001qcd.2	+	7	776	c.666C>T	c.(664-666)caC>caT	p.H222H	STT3A_uc009zbm.2_Silent_p.H222H|STT3A_uc001qce.2_Silent_p.H222H|STT3A_uc010sbg.1_Silent_p.H130H|STT3A_uc009zbn.2_5'UTR	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	222					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCCTCTCCACGTCCTCGTGC	0.478000													4	170					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835974	61835974	+	Silent	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr10:61835974C>T	uc001jky.3	-	36	5003	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1555	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.A1555T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTAGTTGACGCGCCTAATG	0.418000													6	212					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377559	113377559	+	Silent	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:113377559T>C	uc003eam.3	-	6	3381	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_uc003eal.3_Silent_p.S934S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	990					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393000													3	105					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49925022	49925022	+	Missense_Mutation	SNP	C	C	T	rs149022536		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr13:49925022C>T	uc001vcw.3	-	4	920	c.422G>A	c.(421-423)cGt>cAt	p.R141H	CAB39L_uc001vcx.3_Missense_Mutation_p.R141H|CAB39L_uc010adf.3_Missense_Mutation_p.R138H	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	141					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.R141H(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AATCCCACAACGTAAGGCAAT	0.358000													9	78					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398945	233398945	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:233398945G>A	uc002vsw.3	+	10	1268	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	CHRND_uc010zmg.2_Missense_Mutation_p.A407T|CHRND_uc010zmh.2_Missense_Mutation_p.A228T	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	422					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.P421Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CCGGCCCCCAGCAAGCTCTGA	0.592000													3	59					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75113626	75113626	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:75113626G>A	uc002snd.3	+	14	3971	c.2045G>A	c.(2044-2046)aGc>aAc	p.S682N		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	682	Catalytic.|Substrate 2 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCACGGGCAGCAATGCCTGC	0.592000													3	92					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108405390	108405390	+	Silent	SNP	A	A	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:108405390A>G	uc003dxd.3	+	27	3530	c.3108A>G	c.(3106-3108)agA>agG	p.R1036R	DZIP3_uc003dxf.1_Silent_p.R1036R|DZIP3_uc011bhm.2_Silent_p.R487R	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	1036					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGGGAGAGAATTACAGACA	0.498000													20	129					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991293	152991293	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:152991293G>A	uc004fif.2	+	0	971	c.572G>A	c.(571-573)cGc>cAc	p.R191H	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	191	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCGGCTTCGCAACCCTGAC	0.647000													15	103					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114499825	114499825	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:114499825C>T	uc001eem.3	+	6	1833	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	HIPK1_uc001eel.3_Missense_Mutation_p.P558S|HIPK1_uc001een.3_Missense_Mutation_p.P558S|HIPK1_uc001eeo.3_Missense_Mutation_p.P184S|HIPK1_uc001eep.3_Missense_Mutation_p.P164S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCAAGAGTCCCTTCACTAC	0.388000													6	122					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33583639	33583639	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:33583639C>T	uc009vug.3	+	7	1298	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	ADC_uc001bwr.3_Missense_Mutation_p.A389V|ADC_uc001bws.3_Missense_Mutation_p.A389V|ADC_uc009vue.3_Missense_Mutation_p.A389V|ADC_uc001bwt.1_Missense_Mutation_p.A294V|ADC_uc001bwu.3_Missense_Mutation_p.A294V|ADC_uc001bwv.3_Missense_Mutation_p.A294V|ADC_uc001bwx.1_Missense_Mutation_p.A366V	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	389					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	AACATGGGCGCCTACACTGTG	0.632000													13	56					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12387912	12387912	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:12387912G>A	uc001atv.3	+	36	8338	c.8197_splice	c.e36+1	p.R2733_splice	VPS13D_uc001atw.3_Splice_Site_p.R2733_splice|VPS13D_uc001atx.3_Splice_Site_p.R1921_splice|VPS13D_uc001aty.1_Splice_Site_p.R471_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2733					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCTTTTCCCGTGAGTGTTGT	0.403000													3	38					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126343	32126343	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:32126343G>A	uc003jhp.1	-	3	1157	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	291					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.W290L(1)|p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CGCCACCACCGCCCACAGAAC	0.498000													10	179					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153207421	153207421	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:153207421C>G	uc004fjo.2	-	6	921	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R	RENBP_uc011mzh.1_Intron	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	251					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTGTCTCCCCAGGCAGCCA	0.627000													56	195					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62081111	62081111	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:62081111G>C	uc002sbm.4	-	0	168	c.66C>G	c.(64-66)atC>atG	p.I22M	FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Missense_Mutation_p.I22M|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_5'UTR	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	22					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGCTCCAGTGATGGGATTTA	0.672000													15	20					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611096	47611096	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr20:47611096C>T	uc002xtx.4	+	21	3234	c.3082C>T	c.(3082-3084)Cac>Tac	p.H1028Y	ARFGEF2_uc010zyf.2_Missense_Mutation_p.H321Y	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1028					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTGAAGGGCCACACATTGGC	0.572000													5	37					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786908	125786908	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:125786908G>A	uc003eij.3	-	1	381	c.155C>T	c.(154-156)cCa>cTa	p.P52L	SLC41A3_uc003eil.3_Missense_Mutation_p.P52L|SLC41A3_uc003eik.3_Missense_Mutation_p.P52L|SLC41A3_uc011bkh.2_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.P52L	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	52						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGTCTCCAGTGGCTTGGGGGT	0.632000													13	126					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105464772	105464772	+	Silent	SNP	G	G	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:105464772G>T	uc003dwc.3	-	5	1156	c.834C>A	c.(832-834)acC>acA	p.T278T	CBLB_uc011bhi.2_Silent_p.T300T|CBLB_uc003dwd.2_Silent_p.T278T|CBLB_uc003dwe.2_Silent_p.T278T|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	278	Cbl-PTB.|SH2-like.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCCGGGTTTGGTGCTATATT	0.373000			Mis S		AML								10	169					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149782174	149782174	+	Nonsense_Mutation	SNP	C	C	T	rs139226964		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:149782174C>T	uc003lse.3	-	4	643	c.456G>A	c.(454-456)tgG>tgA	p.W152*	CD74_uc003lsc.3_Missense_Mutation_p.E278K|CD74_uc003lsd.3_Missense_Mutation_p.E214K	NM_001025158	NP_001020329	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 3, mRNA.	0					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGGTCCTCCAGTTCCAGT	0.602000			T	ROS1	NSCLC								4	183					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740227	133740227	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr8:133740227C>T	uc003ytn.3	-	5	665	c.436G>A	c.(436-438)Gat>Aat	p.D146N	TMEM71_uc003ytm.2_5'UTR|TMEM71_uc003yto.3_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	165						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGTCTAAATCATCTGCTGAA	0.478000													9	60					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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				37	56					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31911265	31911265	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr6:31911265C>T	uc011dor.2	+	8	1333	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	CFB_uc003nyc.2_Missense_Mutation_p.R297C|CFB_uc011doo.2_Missense_Mutation_p.R264C|CFB_uc011dop.2_Missense_Mutation_p.R296C|CFB_uc003nyf.3_Missense_Mutation_p.R510C|CFB_uc010jtk.3_Missense_Mutation_p.R378C|CFB_uc011doq.2_Missense_Mutation_p.R481C|CFB_uc003nyh.2_Missense_Mutation_p.R161C|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.4_5'Flank	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	529	VWFA.			KK -> EE (in Ref. 10; AAA36225).	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCATTGCTTCCGCGATGGCAA	0.597000													21	174					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249717	140249717	+	Silent	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:140249717C>T	uc003lia.2	+	0	1887	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.N343N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	359	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACACCAACGATAACTCTC	0.512000													3	97					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169781177	169781177	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:169781177T>C	uc002ueo.1	-	26	3881	c.3755A>G	c.(3754-3756)gAa>gGa	p.E1252G	ABCB11_uc010zda.1_Missense_Mutation_p.E670G|ABCB11_uc010zdb.1_Missense_Mutation_p.E728G	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1252	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTTCACTTTCTGTGTCTAA	0.363000													6	72					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73927266	73927266	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:73927266G>A	uc010lbq.3	+	2	623	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	GTF2IRD1_uc003uap.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uaq.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R77Q	NM_001199207	NP_001186136	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 3, mRNA.	77						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A76V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAATGCCCGGAAGGAGCTA	0.637000													3	98					0	0	1	0	0