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
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	24					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34255814	34255814	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:34255814G>C	ENST00000379166.2	-	11	3910	c.3791C>G	c.(3790-3792)gCa>gGa	p.A1264G	KIF24_ENST00000379174.3_Missense_Mutation_p.A1130G|KIF24_ENST00000402558.2_Missense_Mutation_p.A1264G|KIF24_ENST00000345050.2_Missense_Mutation_p.A1130G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1264					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ACTTGGCCTTGCTAAGCACCT	0.557000											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	1					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7728540	7728540	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr4:7728540C>T	ENST00000507866.2	+	21	2888	c.2779C>T	c.(2779-2781)Cgg>Tgg	p.R927W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R755W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	927						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGACAACGCGGTTTTCGGA	0.657000													24	113					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164086	92164086	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:92164086A>T	ENST00000481551.1	+	4	860	c.819A>T	c.(817-819)agA>agT	p.R273S	RBM48_ENST00000265732.5_Missense_Mutation_p.R273S			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	273							nucleotide binding										CAGTTGACAGATTTATGCCTA	0.423000													29	29					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485495	54485495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr19:54485495G>A	ENST00000270458.2	+	4	773	c.670G>A	c.(670-672)Gtc>Atc	p.V224I		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	224					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGTGCTGGCCGTCAACATCTA	0.672000													8	17					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145747957	145747957	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr8:145747957C>T	ENST00000529415.2	-	5	1561	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.E479K			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	482						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCGGACCCTCGGCGAAGAGC	0.711000													6	13					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70404869	70404869	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr10:70404869A>G	ENST00000373644.4	+	4	2592	c.2383A>G	c.(2383-2385)Aaa>Gaa	p.K795E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	795					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAAATTCCTAAAAGACACTGC	0.348000													22	21					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	29					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488000													4	129					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12799806	12799806	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr17:12799806G>A	ENST00000379672.5	+	3	476	c.176G>A	c.(175-177)gGg>gAg	p.G59E	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G59E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G59E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	59	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G59E(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGCCAGCAAGGGGCAGAGGCT	0.597000													3	4					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140109296	140109296	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:140109296C>G	ENST00000371521.4	+	8	974	c.891C>G	c.(889-891)caC>caG	p.H297Q	NDOR1_ENST00000427047.2_Missense_Mutation_p.H263Q|NDOR1_ENST00000344894.5_Missense_Mutation_p.H297Q|NDOR1_ENST00000458322.2_Missense_Mutation_p.H297Q	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	297	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCATGCGGCACCTCGTGTCCC	0.682000													38	34					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61077377	61077377	+	Silent	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr11:61077377G>A	ENST00000301764.7	-	20	2854	c.2457C>T	c.(2455-2457)tgC>tgT	p.C819C	DDB1_ENST00000450997.2_Silent_p.C130C	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	819	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCCCAGCTTGCAGGAAACCA	0.498000								Nucleotide excision repair (NER)					29	52					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128127069	128127069	+	Silent	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr3:128127069C>T	ENST00000254730.6	+	7	1812	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	586						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTTATGTCTTCGACACCCACA	0.647000													38	32					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654766	247654766	+	RNA	SNP	G	G	A	rs145704231		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr1:247654766G>A	ENST00000522351.1	+	0	397							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCGAGTGCGTCCTCCTGGT	0.602000													18	54					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62935845	62935845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr4:62935845C>T	ENST00000514591.1	+	25	3958	c.3629C>T	c.(3628-3630)gCc>gTc	p.A1210V	LPHN3_ENST00000508693.1_Silent_p.C1338C|LPHN3_ENST00000545650.1_Missense_Mutation_p.A1210V|LPHN3_ENST00000514157.1_Silent_p.C1261C|LPHN3_ENST00000506700.1_Silent_p.C1218C|LPHN3_ENST00000509896.1_Silent_p.C1295C|LPHN3_ENST00000506720.1_Missense_Mutation_p.A1321V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A1312V|LPHN3_ENST00000504896.1_Silent_p.C1270C|LPHN3_ENST00000507164.1_Silent_p.C1329C|LPHN3_ENST00000514996.1_Missense_Mutation_p.A1244V|LPHN3_ENST00000508946.1_Missense_Mutation_p.A1253V|LPHN3_ENST00000512091.1_Silent_p.C1227C|LPHN3_ENST00000511324.1_Silent_p.C1286C|LPHN3_ENST00000507625.1_Missense_Mutation_p.A1269V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTGAACAATGCCAGGGATACA	0.418000													21	30					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	31					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27382105	27382105	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr17:27382105G>T	ENST00000323372.4	+	6	1158	c.832G>T	c.(832-834)Gca>Tca	p.A278S	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	278					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CGGCAACCACGCAGACCCTGA	0.602000													26	37					4.59853e-10	4.93501e-10	1	1	0
IFNL1	282618	broad.mit.edu	37	19	39789131	39789131	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr19:39789131C>T	ENST00000333625.2	+	5	675	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_172140.1	NP_742152.1			interferon, lambda 1																		TGTCTGAGAACGTCAACCCAC	0.527000													24	157					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542168	21542168	+	Silent	SNP	A	A	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr14:21542168A>G	ENST00000298694.4	+	3	406	c.279A>G	c.(277-279)gcA>gcG	p.A93A	ARHGEF40_ENST00000298693.3_Silent_p.A93A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	93					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGCTAGCAGCCCTACCCT	0.622000													19	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425173	179425173	+	Silent	SNP	C	C	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:179425173C>A	ENST00000589042.1	-	326	85910	c.85686G>T	c.(85684-85686)gtG>gtT	p.V28562V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V19689V|TTN_ENST00000342992.6_Silent_p.V25994V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V19497V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.V26921V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V19622V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26921	Ig-like 132.						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)			ATTCTTTGGTCACAGAAGTAA	0.408000													8	28					0.0381472	0.0381472	1	1	0
ELN	2006	broad.mit.edu	37	7	73467615	73467615	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:73467615G>T	ENST00000252034.7	+	18	1471	c.1072G>T	c.(1072-1074)Ggg>Tgg	p.G358W	ELN_ENST00000380575.4_Missense_Mutation_p.G348W|ELN_ENST00000414324.1_Missense_Mutation_p.G353W|ELN_ENST00000380553.4_Missense_Mutation_p.G241W|ELN_ENST00000380562.4_Missense_Mutation_p.G358W|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380576.5_Missense_Mutation_p.G358W|ELN_ENST00000458204.1_Missense_Mutation_p.G348W|ELN_ENST00000357036.5_Missense_Mutation_p.G363W|ELN_ENST00000445912.1_Missense_Mutation_p.G358W|ELN_ENST00000320399.6_Missense_Mutation_p.G358W|ELN_ENST00000320492.7_Missense_Mutation_p.G322W|ELN_ENST00000429192.1_Missense_Mutation_p.G363W|ELN_ENST00000358929.4_Missense_Mutation_p.G358W|ELN_ENST00000380584.4_Missense_Mutation_p.G344W	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	358	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCCAGGTGCTGGGATCCCAGG	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						38	35					1.57019e-19	1.7715e-19	1	1	0
APOB	338	broad.mit.edu	37	2	21235473	21235473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:21235473C>T	ENST00000233242.1	-	26	4394	c.4267G>A	c.(4267-4269)Gat>Aat	p.D1423N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1423					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGAGACCCATCATATGATAGT	0.338000													12	23					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012610	99012610	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:99012610A>G	ENST00000393504.1	+	8	1394	c.977A>G	c.(976-978)aAg>aGg	p.K326R	CNGA3_ENST00000409937.1_Missense_Mutation_p.K330R|CNGA3_ENST00000272602.2_Missense_Mutation_p.K326R|CNGA3_ENST00000436404.2_Missense_Mutation_p.K308R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	326					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCATTTCCAAGTTCATTGGT	0.473000													32	22					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124969	119124969	+	Silent	SNP	C	C	T	rs144490263		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:119124969C>T	ENST00000328252.3	+	18	4815	c.4446C>T	c.(4444-4446)aaC>aaT	p.N1482N	PAPPA_ENST00000534838.1_Silent_p.N520N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1482	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGGTTCCAAACGAGCTCAACA	0.557000													18	31					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	21					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242154251	242154251	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:242154251C>T	ENST00000274979.8	+	18	2025	c.1922C>T	c.(1921-1923)gCa>gTa	p.A641V	ANO7_ENST00000402430.3_Missense_Mutation_p.A640V	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	641						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ATCGAGCTGGCACAGGAGCTC	0.627000													16	22					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042978	31042978	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr22:31042978G>A	ENST00000343605.4	+	2	1812	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	338						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCCGTCGGGGGCTGTGG	0.637000													14	26					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455134	44455134	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr13:44455134G>T	ENST00000441843.1	+	2	498	c.13G>T	c.(13-15)Gtt>Ttt	p.V5F	LACC1_ENST00000325686.6_Missense_Mutation_p.V5F	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	5																	GGCAGAAGCTGTTTTGATTGA	0.313000													10	18					4.68919e-08	4.91248e-08	1	1	0
RBM46	166863	broad.mit.edu	37	4	155719277	155719277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr4:155719277G>T	ENST00000510397.1	+	3	645	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	RBM46_ENST00000281722.3_Nonsense_Mutation_p.E156*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.E156*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	156	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAGAAAGAAGAAATTTTAGA	0.333000													23	23					2.39556e-15	2.63512e-15	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100621501	100621501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr3:100621501G>A	ENST00000471714.1	-	3	419	c.310C>T	c.(310-312)Cga>Tga	p.R104*	ABI3BP_ENST00000284322.5_Nonsense_Mutation_p.R104*|ABI3BP_ENST00000495063.1_Nonsense_Mutation_p.R104*|ABI3BP_ENST00000532144.1_5'UTR			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	104						extracellular space		p.R104*(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAGCAGGTCGCACAACTATC	0.408000													10	21					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	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				54	64					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76940739	76940739	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:76940739T>C	ENST00000257626.7	-	31	2579	c.2501A>G	c.(2500-2502)aAt>aGt	p.N834S	GSAP_ENST00000441833.2_Missense_Mutation_p.N155S	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TGCATCCACATTGTCATGTCC	0.438000													5	53					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982849	131982849	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:131982849C>T	ENST00000359827.3	-	4	2466		c.e4+1		PLXNA4_ENST00000321063.4_Splice_Site			Q9HCM2	PLXA4_HUMAN	plexin A4							integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGCCTTACCTGCCTCTCT	0.547000													67	75					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22011545	22011545	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr8:22011545C>T	ENST00000306317.2	-	5	719	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	LGI3_ENST00000424267.2_Missense_Mutation_p.A120T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	144					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTATTGTTGGCCAGCGAGCTG	0.557000													3	38					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147001	42147001	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr6:42147001delT	ENST00000394237.1	+	6	1442	c.466delT	c.(466-468)ttfs	p.F156fs	GUCA1A_ENST00000053469.4_Frame_Shift_Del_p.F156fs|GUCA1A_ENST00000372958.1_Frame_Shift_Del_p.F156fs|GUCA1A_ENST00000541991.1_Frame_Shift_Del_p.F156fs			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	156	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTGGAAGAGTTTATAGAGGG	0.572													13	92	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73850042	73850054	+	Frame_Shift_Del	DEL	CTCCCAGGGGCAA	CTCCCAGGGGCAA	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr8:73850042_73850054delCTCCCAGGGGCAA	ENST00000523207.1	+	3	3040_3052	c.2452_2464delCTCCCAGGGGCAA	c.(2452-2466)ggfs	p.LPGAR818fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	818					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P819S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTTCTTAGAGCTCCCAGGGGCAAGGGAGGAGAA	0.521													11	91	---	---	---	---					
LDHAL6CP	121498	broad.mit.edu	37	12	63398142	63398143	+	RNA	INS	-	-	AA			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr12:63398142_63398143insAA	ENST00000552996.1	-	0	509_510				LDHAL6CP_ENST00000550738.1_RNA																							TAGGAACTGATAAAGATCCTGA	0.426													7	15	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													2	4	---	---	---	---					
LRRC37A7P	100421589	broad.mit.edu	37	18	29304425	29304425	+	RNA	DEL	C	C	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr18:29304425delC	ENST00000583900.1	+	0	265																											TAACTCCCCACCCCCGGGCAG	0.622													2	4	---	---	---	---					
AC007204.2	0	broad.mit.edu	37	19	20067365	20067367	+	RNA	DEL	AGG	AGG	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr19:20067365_20067367delAGG	ENST00000592245.1	+	0	72																											AAGCTGGGCAAGGAGAACTCGGG	0.621													2	4	---	---	---	---					
