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
HFM1	164045	broad.mit.edu	37	1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313													22	71	---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161326467	161326467	+	Splice_Site	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000432287.2_Splice_Site_p.G47E|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				59	139	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617													12	29	---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20402631	20402631	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:20402631G>T	ENST00000381150.1	-	6	1219	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.R277S	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	277					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTCTTCATGCGGTACAGCATG	0.597													5	397	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:179593776T>C	ENST00000589042.1	-	65	19213	c.18989A>G	c.(18988-18990)cAg>cGg	p.Q6330R	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6013	Ig-like 44.						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)			ATCAAGAATCTGATCATCCTT	0.398													19	37	---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443													14	60	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438													85	141	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468													107	168	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TAGATGATGTGCTGAGCTTCA	0.488													5	422	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984772	123984772	+	Silent	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572													36	75	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		597	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721													34	131	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677													83	142	---	---	---	---
ERMARD	55780	broad.mit.edu	37	6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:170175420G>T	ENST00000588451.1	+	13	1477	c.964G>T	c.(964-966)Gaa>Taa	p.E322*	ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366773.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*					ER membrane-associated RNA degradation	458																	TTTCCCCGAAGAACTCACTCG	0.502													16	34	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547													91	132	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313													18	36	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110420309	110420309	+	Silent	SNP	T	T	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)			35	44	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960861	143960861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:143960861C>T	ENST00000377675.3	-	2	281	c.275G>A	c.(274-276)aGg>aAg	p.R92K	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGCTGCACTCCTTCCCCATCT	0.647									Familial Hyperaldosteronism type I				27	42	---	---	---	---
IFNA16	3449	broad.mit.edu	37	9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463													192	273	---	---	---	---
CYP2C8	1558	broad.mit.edu	37	10	96827286	96827286	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331G>T	c.(331-333)Gga>Tga	p.G111*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448													21	173	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome				24	125	---	---	---	---
GSTO2	119391	broad.mit.edu	37	10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:106035064C>A	ENST00000369707.2	+	1	145	c.31C>A	c.(31-33)Cgc>Agc	p.R11S	GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2						water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	101	---	---	---	---
ARL2	402	broad.mit.edu	37	11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532													8	22	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612													95	231	---	---	---	---
COG6	57511	broad.mit.edu	37	13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:40239254G>A	ENST00000416691.1	+	4	491	c.391G>A	c.(391-393)Gat>Aat	p.D131N	COG6_ENST00000455146.3_Missense_Mutation_p.D131N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274													42	44	---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100613165	100613165	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr14:100613165A>G	ENST00000305631.5	-	3	1480	c.905T>C	c.(904-906)tTt>tCt	p.F302S	DEGS2_ENST00000553834.1_Silent_p.V54V	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	302					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGAGTCCTCAAACACAAAATC	0.632													59	108	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54306249	54306249	+	Silent	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:54306249C>G	ENST00000545554.1	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388													14	89	---	---	---	---
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020709	33020709	+	RNA	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020709G>C	ENST00000565407.2	+	0	117				RP11-19N8.2_ENST00000567619.1_RNA																							CCCTGAGACTGTCCTGTCCAG	0.577													5	371	---	---	---	---
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020716	33020716	+	RNA	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020716C>G	ENST00000565407.2	+	0	124				RP11-19N8.2_ENST00000567619.1_RNA																							ACTGTCCTGTCCAGCCTCTGG	0.582													10	413	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578253C>A	ENST00000420246.2	-	6	728	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCAAATTTCCTTCCACTCG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	53	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215726	8215726	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682													21	271	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:42865114C>G	ENST00000334370.4	+	31	6110	c.5475C>G	c.(5473-5475)tgC>tgG	p.C1825W	MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672													39	67	---	---	---	---
ZNF404	342908	broad.mit.edu	37	19	44384267	44384267	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:44384267C>A	ENST00000587539.1	-	2	30	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCTATGGCAACATCGCTGAAT	0.378													4	159	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr20:9360791G>A	ENST00000378501.2	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299													16	44	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144906346	144906346	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468													7	153	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cacfs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637													8	701	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gttfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363													38	14	---	---	---	---
