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
CNTN2	6900	broad.mit.edu	37	1	205033529	205033529	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:205033529C>T	ENST00000331830.4	+	11	1604	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	440	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTATCCCCTGCCAGCCCCGGG	0.637													4	185	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130877697	130877697	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:130877697G>A	ENST00000357462.5	-	1	485	c.392C>T	c.(391-393)cCc>cTc	p.P131L	POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	131						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGGTACCTGGGCTCCATGAA	0.592													38	60	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976367	131976367	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:131976367C>T	ENST00000356920.5	+	1	486	c.392C>T	c.(391-393)cCc>cTc	p.P131L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	131							ATP binding										TTCATGGAGCCCAGGTACCAC	0.602													5	96	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155253687	155253687	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:155253687G>T	ENST00000357232.4	-	9	2175	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATAATAGCTGTCCATTCTTT	0.383													35	37	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32069683	32069683	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr5:32069683G>T	ENST00000438447.1	+	15	2848	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D			O15018	PDZD2_HUMAN	PDZ domain containing 2	820					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						AGGTTTCCGAGCAGGAAATGG	0.413													5	35	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70854121	70854121	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:70854121G>A	ENST00000322773.4	+	24	1748	c.1646G>A	c.(1645-1647)gGt>gAt	p.G549D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	549	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAACATGGTATCCCAGGA	0.358													5	160	---	---	---	---
SRSF12	135295	broad.mit.edu	37	6	89814872	89814872	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:89814872C>T	ENST00000452027.2	-	4	575	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	128	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CTATTTCTTCCCCATGAAGAA	0.383													4	11	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55268923	55268923	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:55268923T>G	ENST00000275493.2	+	25	3166	c.2989T>G	c.(2989-2991)Ttc>Gtc	p.F997V	EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	997					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGACTCCAACTTCTACCGTGC	0.522		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	71	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107782091	107782091	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr8:107782091A>G	ENST00000311955.3	-	1	382	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	110					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACCGTTTTGGACACCTCTTTC	0.562													5	61	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108469017	108469017	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr10:108469017G>T	ENST00000263054.6	-	7	1114	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	369						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAATCAAAGAGTCTGGGTCAA	0.388													30	49	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955897	18955897	+	Silent	SNP	C	C	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:18955897C>G	ENST00000302797.3	-	1	659	c.435G>C	c.(433-435)ctG>ctC	p.L145L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	145					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGCCCAGAGCAGGACACACA	0.597													28	25	---	---	---	---
MEDAG	84935	broad.mit.edu	37	13	31498491	31498491	+	Silent	SNP	A	A	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:31498491A>T	ENST00000380482.4	+	5	1156	c.831A>T	c.(829-831)tcA>tcT	p.S277S	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238			mesenteric estrogen-dependent adipogenesis									p.S277S(1)									CACCCAGATCATCTCTGACAG	0.363													31	52	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42267091	42267091	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:42267091C>A	ENST00000379310.3	-	30	3650	c.3582G>T	c.(3580-3582)ttG>ttT	p.L1194F	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TAGTATCTAACAACAGGATAA	0.383													10	23	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5039897	5039897	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:5039897C>T	ENST00000159111.4	+	4	410	c.192C>T	c.(190-192)gaC>gaT	p.D64D	KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	64					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACATCGACGACGTGGTGA	0.612													23	56	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363305	22363305	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:22363305G>A	ENST00000397121.2	-	3	1531	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAGCTTTGAGGATGAGTTGGA	0.423													50	73	---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43142587	43142587	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:43142587A>C	ENST00000342374.4	-	2	291	c.134T>G	c.(133-135)aTt>aGt	p.I45S	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	45						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAGGAGGAGAATGAAAGCATA	0.448													30	49	---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43706090	43706090	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr21:43706090A>G	ENST00000398437.1	+	9	1545	c.1397A>G	c.(1396-1398)aAc>aGc	p.N466S	ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	320	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACCTACCACAACCCAGCAGAT	0.517													74	81	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121968	38121968	+	Silent	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr22:38121968A>G	ENST00000406386.3	+	7	3660	c.3405A>G	c.(3403-3405)ttA>ttG	p.L1135L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1135					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTTCCCTCTTATTCCAGGACC	0.642													40	49	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3238698	3238698	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:3238698C>T	ENST00000217939.6	-	5	5182	c.5028G>A	c.(5026-5028)ttG>ttA	p.L1676L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1676						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGACATGTGCAATGGGAGAG	0.418													14	141	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129148368	129148369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:129148368_129148369insC	ENST00000540052.1	+	3	1664_1665	c.1620_1621insC	c.(1621-1623)cccfs	p.P541fs	BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	541	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCAGCCTGCACCCGATGGGGT	0.624													7	105	---	---	---	---
