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
DOCK10	55619	broad.mit.edu	37	2	225652092	225652092	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:225652092T>A	uc010fwz.1	-	48	5680	c.5441A>T	c.(5440-5442)tAc>tTc	p.Y1814F	DOCK10_uc002vob.2_Missense_Mutation_p.Y1808F|DOCK10_uc002voa.2_Missense_Mutation_p.Y470F|DOCK10_uc002voc.2_Missense_Mutation_p.Y635F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1814	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACACATGTATAGCTGCTC	0.423000													57	145					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205768182	205768182	+	Silent	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:205768182G>T	uc001hdh.1	-	4	1472	c.600C>A	c.(598-600)gtC>gtA	p.V200V	AX748016_uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	200						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCCAGCCAAAGACGACGGCTG	0.607000													19	55					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809478	31809478	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:31809478A>G	uc001ivs.4	+	6	1278	c.1215A>G	c.(1213-1215)atA>atG	p.I405M	ZEB1_uc001ivr.4_Missense_Mutation_p.I187M|ZEB1_uc010qef.2_Missense_Mutation_p.I187M|ZEB1_uc009xlj.1_Missense_Mutation_p.I331M|ZEB1_uc010qeg.1_Missense_Mutation_p.I264M|ZEB1_uc009xlk.1_Missense_Mutation_p.I187M|ZEB1_uc001ivu.4_Missense_Mutation_p.I406M|ZEB1_uc010qeh.2_Missense_Mutation_p.I338M|ZEB1_uc001ivv.4_Missense_Mutation_p.I385M|ZEB1_uc001ivt.4_Missense_Mutation_p.I187M|ZEB1_uc009xlo.2_Missense_Mutation_p.I388M|ZEB1_uc009xlp.3_Missense_Mutation_p.I389M	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	405					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P404S(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCTCCCATAAGTATCAATT	0.438000													20	53					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219888790	219888790	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:219888790A>T	uc002vjl.1	-	14	2626	c.2542T>A	c.(2542-2544)Tgg>Agg	p.W848R		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	848						integral to membrane	structural molecule activity	p.S847F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGCTTCCAGGAGCTGCCC	0.602000													27	82					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089490	57089490	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:57089490T>G	uc002qnl.4	+	5	2369	c.1693T>G	c.(1693-1695)Tac>Gac	p.Y565D	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAGAAGCCTTACGAATGTAT	0.443000													17	53					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132854651	132854651	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:132854651G>A	uc004bze.2	+	8	1081	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	GPR107_uc004bzb.2_Missense_Mutation_p.R96Q|GPR107_uc011mbx.1_Missense_Mutation_p.R285Q|GPR107_uc004bzd.2_Missense_Mutation_p.R285Q	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	285						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATATCCTTCGAAAACGACGG	0.423000													5	84					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140963116G>A	uc003llb.4	-	4	610	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_uc003llc.4_Missense_Mutation_p.R148W|DIAPH1_uc021yep.1_Missense_Mutation_p.R157W|DIAPH1_uc021yeq.1_Missense_Mutation_p.R148W	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	157	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512000													4	131					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38684211	38684211	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:38684211C>T	uc002ohk.3	+	17	5140	c.4631C>T	c.(4630-4632)tCg>tTg	p.S1544L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1544					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGACGCTGTCGGACGAGAGC	0.697000													4	12					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200544	155200544	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:155200544T>C	uc021xge.1	-	22	3572	c.3295A>G	c.(3295-3297)Aca>Gca	p.T1099A	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.T1061A	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1099					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATCTTGTGTGGGGTTAACT	0.478000													46	134					0	0	1	0	0
FAM165B	54065	broad.mit.edu	37	21	35757886	35757886	+	Silent	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:35757886A>G	uc002ytu.4	+	2	318	c.123A>G	c.(121-123)aaA>aaG	p.K41K	FAM165B_uc002ytv.2_Intron|FAM165B_uc002ytw.2_Non-coding_Transcript	NM_058182	NP_478062	P58511	F165B_HUMAN	Homo sapiens family with sequence similarity 165, member B (FAM165B), mRNA.	41						integral to membrane											TGGAGGCAAAACAACAAAAAC	0.443000													11	46					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520476	52520476	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr14:52520476T>C	uc001wzo.3	-	4	1484	c.1250A>G	c.(1249-1251)aAc>aGc	p.N417S	NID2_uc010tqs.2_Missense_Mutation_p.N417S|NID2_uc010tqt.1_Missense_Mutation_p.N417S|NID2_uc001wzp.3_Missense_Mutation_p.N417S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	417						basement membrane	calcium ion binding|collagen binding	p.E416K(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATGCTTCCGTTTTCGGGGTA	0.557000													31	83					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26286730	26286730	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:26286730A>T	uc003abz.1	+	25	4572	c.4322A>T	c.(4321-4323)gAc>gTc	p.D1441V	MYO18B_uc003aca.1_Missense_Mutation_p.D1322V|MYO18B_uc010guy.1_Missense_Mutation_p.D1323V|MYO18B_uc010guz.1_Missense_Mutation_p.D1322V|MYO18B_uc011aka.1_Missense_Mutation_p.D595V|MYO18B_uc011akb.1_Missense_Mutation_p.D954V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1441	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGATTGCTGACTTGACCTCT	0.582000													6	20					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39163706	39163706	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:39163706T>A	uc003oon.3	-	1	608	c.244A>T	c.(244-246)Aac>Tac	p.N82Y		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	82					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGTTCCAGTTGTTGAAGGTC	0.502000													17	19					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847438	47847438	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:47847438T>A	uc011dwm.2	-	2	1176	c.1142A>T	c.(1141-1143)tAc>tTc	p.Y381F	PTCHD4_uc011dwn.2_Missense_Mutation_p.Y128F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	381	SSD.					integral to membrane	hedgehog receptor activity										GGAGAAAATGTAGAAGTAGTT	0.448000													15	26					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23556149	23556149	+	Splice_Site	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:23556149T>A	uc003swi.3	-	3	384	c.171_splice	c.e3-1	p.R57_splice	TRA2A_uc011jzb.2_Splice_Site|TRA2A_uc011jzc.2_Splice_Site|TRA2A_uc011jzd.2_Splice_Site|TRA2A_uc010kuo.1_Splice_Site	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	57	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GACCTCGACCTTTGAGAGAAA	0.408000													30	28					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230980	147230980	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:147230980A>T	uc021ovl.1	-	0	367	c.367T>A	c.(367-369)Tac>Aac	p.Y123N	GJA5_uc001eps.1_Missense_Mutation_p.Y123N|GJA5_uc001ept.1_Missense_Mutation_p.Y123N	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	123					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGGTACTCGTAAGAGCCAGAG	0.607000													27	88					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2603	2603	+	RNA	SNP	C	C	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrGL000237.1:2603C>G	uc011mgu.1	-	0		c.84G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gttacaggctccagcctccag	0.612000													4	25					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38338661	38338661	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:38338661T>C	uc001ccf.1	-	12	1673	c.1636A>G	c.(1636-1638)Aca>Gca	p.T546A	INPP5B_uc009vvk.1_Missense_Mutation_p.T651A|INPP5B_uc001ccg.1_Missense_Mutation_p.T710A	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	790					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAACACAGTGTATGAATGGGA	0.443000													9	38					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89702352	89702352	+	Silent	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:89702352T>C	uc003hse.1	-	10	1630	c.1422A>G	c.(1420-1422)aaA>aaG	p.K474K	FAM13A_uc003hsb.1_Silent_p.K148K|FAM13A_uc003hsd.1_Silent_p.K148K|FAM13A_uc003hsc.1_Silent_p.K134K|FAM13A_uc011cdq.1_Silent_p.K120K|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Silent_p.K288K|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	474					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCTCAGAAAGTTTAGTACTGG	0.358000													31	69					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42657359	42657359	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:42657359T>G	uc011dur.2	+	45	5375	c.5077T>G	c.(5077-5079)Tat>Gat	p.Y1693D	UBR2_uc011dus.2_Missense_Mutation_p.Y1338D|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.Y281D|UBR2_uc011duu.2_Missense_Mutation_p.Y85D	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1693					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGCTGTTTTTATTCTCCTCC	0.468000													128	302					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69985925	69985925	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:69985925A>T	uc001svb.1	+	7	830	c.736A>T	c.(736-738)Aca>Tca	p.T246S	CCT2_uc010stl.1_Missense_Mutation_p.T199S	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	246					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTATGGATACAGACAAAAT	0.333000													24	45					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95070306	95070306	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:95070306T>A	uc001kin.3	-	51	6107	c.5984A>T	c.(5983-5985)aAg>aTg	p.K1995M	MYOF_uc001kio.3_Missense_Mutation_p.K1982M|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1995					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAGTCCAGCTTGGGGTTCAT	0.562000													19	56					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266100	41266100	+	Missense_Mutation	SNP	T	T	G	rs121913416		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:41266100T>G	uc010hia.1	+	3	253	c.97T>G	c.(97-99)Tct>Gct	p.S33A	CTNNB1_uc003ckq.2_Missense_Mutation_p.S33A|CTNNB1_uc003ckp.2_Missense_Mutation_p.S33A|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33A|CTNNB1_uc011azf.1_Missense_Mutation_p.S26A|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(176)|p.D32Y(140)|p.A5_A80del(119)|p.S33F(103)|p.S33P(96)|p.D32N(87)|p.D32G(69)|p.S33Y(62)|p.D32V(41)|p.D32H(41)|p.S33A(32)|p.D32A(18)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.W25_D32del(9)|p.H24_S47del(9)|p.S33L(8)|p.W25_I140del(7)|p.V22_G38del(6)|p.S33N(5)|p.S23_S33del(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.Y30_S33del(4)|p.V22_S33del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.Q28_Q61del(2)|p.S33T(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.S29_H36del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.D32E(2)|p.W25_I35del(2)|p.A5_I35del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.W25_S33del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.D32_H36>D(2)|p.P16_K133del(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.S33_S37del(2)|p.D32_S33insS(2)|p.Y30_T40del(2)|p.A5_Q143>E(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.D32fs*9(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S23_I35del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D32_H36del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.S33S(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.D32del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S33_G34del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S33_G34insGTS(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.S33_G34insS(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.Q28_D32>H(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTACCTGGACTCTGGAATCCA	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				3	39					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95043126	95043126	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:95043126T>C	uc004art.1	-	6	904	c.647A>G	c.(646-648)gAa>gGa	p.E216G	IARS_uc004ars.1_Missense_Mutation_p.E61G|IARS_uc004aru.3_Missense_Mutation_p.E216G|IARS_uc010mqr.2_Missense_Mutation_p.E106G|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	216					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGATACAGTTTCATCTTCTTC	0.353000													10	25					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167289254	167289254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:167289254G>T	uc002udu.2	-	14	2296	c.2166C>A	c.(2164-2166)taC>taA	p.Y722*	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	722					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CCAGAAACAGGTAAAGTACCT	0.328000													4	12					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17914091	17914091	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:17914091G>C	uc001ban.3	+	2	333	c.174G>C	c.(172-174)gaG>gaC	p.E58D	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E58D|ARHGEF10L_uc001bao.3_Missense_Mutation_p.E58D|ARHGEF10L_uc001bap.3_Missense_Mutation_p.E58D|ARHGEF10L_uc010ocr.1_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	58					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGCTCCTGAGAGGGACACAG	0.587000													78	211					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081347	157081347	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:157081347A>G	uc003fbj.2	-	8	1960	c.1541T>C	c.(1540-1542)aTa>aCa	p.I514T	VEPH1_uc003fbk.2_Missense_Mutation_p.I514T|VEPH1_uc010hvu.2_Missense_Mutation_p.I514T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	514						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTCTATATGTATAATATTTGG	0.413000													31	76					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23419974	23419974	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:23419974G>T	uc001bgk.2	-	3	1331	c.781C>A	c.(781-783)Ctg>Atg	p.L261M	LUZP1_uc010odv.1_Missense_Mutation_p.L261M|LUZP1_uc001bgl.3_Missense_Mutation_p.L261M|LUZP1_uc001bgm.1_Missense_Mutation_p.L261M	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	261						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTAGTCCAGACCACCCTTC	0.408000													19	38					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575729	22575729	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:22575729T>A	uc002nqt.2	-	3	430	c.308A>T	c.(307-309)tAt>tTt	p.Y103F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N102K(1)|p.Y103*(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTTTGGAAATAATTTTTTTT	0.303000													6	21					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32599590	32599590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:32599590G>T	uc003xiv.2	+	6	1214	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Nonsense_Mutation_p.E233*|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Nonsense_Mutation_p.E123*|NRG1_uc003xiy.3_Intron|NRG1_uc011lbg.1_Nonsense_Mutation_p.E79*|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_Nonsense_Mutation_p.E36*	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	233					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAAACCAAGAAAGTATGTC	0.398000													16	29					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853136	40853136	+	Silent	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:40853136C>T	uc003jmg.3	+	2	1777	c.1702C>T	c.(1702-1704)Cta>Tta	p.L568L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	568					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGACTTGCTAATGTTTTT	0.398000													8	129					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071863	131071863	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:131071863G>C	uc004buq.1	-	7	972	c.962C>G	c.(961-963)tCt>tGt	p.S321C		NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	321					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCCCAAGGTAGAGCTCGGGCC	0.622000													26	69					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:52595854G>A	uc001jjj.3	-	5	772	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_uc010qho.2_Missense_Mutation_p.A203V|A1CF_uc010qhn.2_Missense_Mutation_p.A203V|A1CF_uc009xov.3_Missense_Mutation_p.A195V|A1CF_uc001jji.3_Missense_Mutation_p.A195V|A1CF_uc001jjh.3_Missense_Mutation_p.A203V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	195	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A195V(4)|p.A203V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488000													22	66					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288741	17288741	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:17288741T>C	uc002zlv.3	-	1	321	c.223A>G	c.(223-225)Att>Gtt	p.I75V	XKR3_uc011agf.2_Missense_Mutation_p.I75V	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	75						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCCCCACAATAATAAAGCTG	0.353000													28	48					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013852	9013852	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:9013852A>C	uc001quz.4	+	27	3559	c.3461A>C	c.(3460-3462)aAc>aCc	p.N1154T	A2ML1_uc001qva.1_Missense_Mutation_p.N734T|A2ML1_uc010sgm.2_Missense_Mutation_p.N654T	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	998						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GACATCAGAAACATTCTCCTT	0.448000													25	92					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687905	60687905	+	Silent	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:60687905G>A	uc002sae.1	-	3	2370	c.2142C>T	c.(2140-2142)agC>agT	p.S714S	BCL11A_uc002sab.3_Silent_p.S714S|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.S383S|BCL11A_uc010ypj.2_Silent_p.S680S|BCL11A_uc002sad.1_Silent_p.S562S|BCL11A_uc002saf.1_Silent_p.S680S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	714					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCCCGTGCCGCTGCGCCCCG	0.652000			T	IGH@	B-CLL								6	98					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	28807502	28807502	+	Silent	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:28807502T>A	uc004dby.2	+	1	550	c.42T>A	c.(40-42)acT>acA	p.T14T		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	14					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATACGCTACTTTTACTCAGA	0.368000													3	34					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484336	87484336	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:87484336A>T	uc001kdl.1	-	10	1732	c.1631T>A	c.(1630-1632)cTa>cAa	p.L544Q	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.L115Q	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	544						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTTCTTAATTAGAATCCCCAC	0.522000										Multiple Myeloma(13;0.14)			32	44					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681549	100681549	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:100681549A>G	uc003uxp.1	+	2	6905	c.6852A>G	c.(6850-6852)atA>atG	p.I2284M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2284	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAAGTATACCTGTCAGCC	0.463000													160	402					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183539961	183539961	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:183539961A>T	uc001gqj.4	-	5	898	c.623T>A	c.(622-624)gTg>gAg	p.V208E	NCF2_uc010pod.2_Missense_Mutation_p.V163E|NCF2_uc010poe.2_Missense_Mutation_p.V127E|NCF2_uc001gqk.4_Missense_Mutation_p.V208E	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	208					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGATCCACCACAGATGCCAC	0.532000													21	41					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791307	15791307	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:15791307A>C	uc002nbl.3	+	4	622	c.503A>C	c.(502-504)aAc>aCc	p.N168T	CYP4F12_uc010xoo.2_Missense_Mutation_p.N168T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACGATCTTCAACAAGAGTGCA	0.532000													12	38					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751641	62751641	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:62751641G>T	uc003dll.2	-	1	820	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	CADPS_uc003dlm.2_Missense_Mutation_p.Q154K|CADPS_uc003dln.2_Missense_Mutation_p.Q154K|CADPS_uc021wzv.1_Missense_Mutation_p.Q154K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	154					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGACTGTCTGCAGCTGCTGT	0.468000													33	58					0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79933789	79933789	+	Silent	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:79933789T>C	uc003kgy.1	-	3	774	c.282A>G	c.(280-282)ctA>ctG	p.L94L	DHFR_uc011ctl.2_Silent_p.L252L|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Intron	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	94	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	AGGCATCATCTAGACTTCTGG	0.353000													21	52					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	186					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18924261	18924261	+	Silent	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:18924261G>T	uc002yki.3	+	2	629	c.405G>T	c.(403-405)ctG>ctT	p.L135L	CXADR_uc002ykh.2_Silent_p.L135L|CXADR_uc010gld.2_Silent_p.L135L|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Silent_p.L135L|CXADR_uc002ykj.2_Silent_p.L135L	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	135					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AGATTCATCTGGTAGTTCTTG	0.333000													3	40					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:47696644A>C	uc002ipg.3	-	3	601	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_uc010dbk.3_Missense_Mutation_p.F102V|SPOP_uc002ipb.3_Missense_Mutation_p.F102V|SPOP_uc002ipc.3_Missense_Mutation_p.F102V|SPOP_uc002ipd.3_Missense_Mutation_p.F102V|SPOP_uc002ipe.3_Missense_Mutation_p.F102V|SPOP_uc002ipf.3_Missense_Mutation_p.F102V	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408000										Prostate(2;0.17)			30	37					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246269	216246269	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:216246269A>G	uc001hku.1	-	28	6206	c.5819T>C	c.(5818-5820)gTa>gCa	p.V1940A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1940	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCACTATATACTGAACCTCC	0.368000										HNSCC(13;0.011)			25	60					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31747573	31747573	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:31747573G>C	uc003nxe.3	-	26	3523	c.3100C>G	c.(3100-3102)Ctg>Gtg	p.L1034V	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1034					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCCATTCAGTACAGGTTTC	0.622000													5	40					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79770385	79770385	+	Splice_Site	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:79770385T>A	uc011dyp.2	-	5	566	c.340_splice	c.e5+1	p.S114_splice	PHIP_uc003pir.3_Splice_Site_p.S114_splice	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	114					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTTTCATACTTTTATTTGTG	0.333000													7	53					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802756	96802756	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:96802756T>C	uc001kkb.3	-	6	1135	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	CYP2C8_uc010qoa.2_Missense_Mutation_p.Y277C|CYP2C8_uc010qoc.2_Missense_Mutation_p.Y245C|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.Y261C|CYP2C8_uc021pwl.1_Missense_Mutation_p.Y277C|CYP2C8_uc010qod.1_Missense_Mutation_p.Y261C	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	347					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)	AGCATCAGTGTAAGGCATGTG	0.498000													31	79					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201645	140201645	+	Silent	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140201645C>T	uc003lhl.2	+	0	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.C95C|PCDHAC2_uc003lhj.1_Silent_p.C95C	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	111	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCCGGCGGAGGG	0.587000													5	260					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030696	3030696	+	Silent	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:3030696A>T	uc002fvc.1	-	0	150	c.150T>A	c.(148-150)atT>atA	p.I50I		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAGTGTCAGTAATGATGACTA	0.517000													35	98					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41169988	41169988	+	Silent	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:41169988T>C	uc003azc.3	-	7	869	c.729A>G	c.(727-729)acA>acG	p.T243T	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Silent_p.T206T|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Silent_p.T170T	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	243					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GACTTCCCAATGTTCTGTTTT	0.408000													9	42					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53578098	53578098	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:53578098G>A	uc004dsp.3	-	64	9551	c.9149C>T	c.(9148-9150)gCc>gTc	p.A3050V	HUWE1_uc004dsn.3_Missense_Mutation_p.A1858V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3050					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCTGAGCTGGCATTCTGTGC	0.552000													3	42					0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250218	17250218	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:17250218C>T	uc002grf.3	+	4	829	c.644C>T	c.(643-645)gCg>gTg	p.A215V	NT5M_uc002grg.3_Missense_Mutation_p.A221V	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	215					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CACTCGTGGGCGGACGACTGG	0.692000													24	57					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186099650	186099650	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:186099650T>C	uc001grq.1	+	84	13280	c.13051T>C	c.(13051-13053)Ttc>Ctc	p.F4351L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4351	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCTCCAGTCTTCAAAGGTGA	0.393000													20	57					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15028970	15028970	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrY:15028970A>T	uc004fsu.1	+	15	2070	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	DDX3Y_uc004fsv.2_Missense_Mutation_p.K587N|DDX3Y_uc010nww.1_Missense_Mutation_p.K403N|DDX3Y_uc011nar.1_Missense_Mutation_p.K584N	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	587						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACGATCTAAAAGGTACACAC	0.393000													3	3					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234581	15234581	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:15234581G>C	uc002gon.3	-	2	509	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	108					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGACTCTTGATAGTTGGTT	0.423000													17	162					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94066494	94066494	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:94066494G>C	uc003poe.3	-	4	1506	c.1265C>G	c.(1264-1266)tCt>tGt	p.S422C	EPHA7_uc003pof.3_Missense_Mutation_p.S422C|EPHA7_uc011eac.2_Missense_Mutation_p.S422C	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	422	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTAAGTCAGAAACTCCATT	0.433000													14	59					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149502	34149502	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:34149502A>T	uc004ddg.3	-	0	946	c.894T>A	c.(892-894)tgT>tgA	p.C298*		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	298										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAATTTCCCACAAGGGTATT	0.592000													16	5					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227407	112227407	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:112227407A>G	uc021ycm.1	+	0	99	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						CACAAAAAGTACAGGGCCGCC	0.512000													7	35					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721228	63721228	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:63721228G>C	uc003tsx.3	+	3	452	c.183G>C	c.(181-183)aaG>aaC	p.K61N		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTGTCTCTAAGCCAGACTTGA	0.353000													3	54					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479847	4479847	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:4479847G>A	uc001qmq.1	-	2	564	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	140					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.R140W(2)|p.G139D(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTTCGCCCGGCCCAGACTG	0.577000													50	153					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	71					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266782	124266782	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:124266782C>T	uc003yqe.3	-	2	2015	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.A469T|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.A469T|ZHX1_uc022bak.1_Missense_Mutation_p.A469T	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	469	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R468W(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCTTTTTTGCCCGAATGCCA	0.388000													4	155					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77208864	77208864	+	Missense_Mutation	SNP	C	C	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:77208864C>G	uc010xfg.2	+	3	1922	c.1469C>G	c.(1468-1470)gCc>gGc	p.A490G	NFATC1_uc002lnc.1_Missense_Mutation_p.A490G|NFATC1_uc010xff.1_Missense_Mutation_p.A490G|NFATC1_uc002lnd.3_Missense_Mutation_p.A490G|NFATC1_uc002lne.3_Missense_Mutation_p.A18G|NFATC1_uc010xfh.2_Missense_Mutation_p.A490G|NFATC1_uc010xfi.1_Missense_Mutation_p.A477G|NFATC1_uc010xfj.2_Missense_Mutation_p.A18G|NFATC1_uc002lnf.3_Missense_Mutation_p.A477G|NFATC1_uc002lng.3_Missense_Mutation_p.A477G|NFATC1_uc010xfk.2_Missense_Mutation_p.A477G	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	490	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCCCGCACGCCTTCTACCAG	0.612000													31	63					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132860433	132860433	+	Silent	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:132860433G>A	uc011eci.2	+	1	1004	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	335						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGACTGATTCGTCAACAACTA	0.328000													7	19					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169508849	169508849	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:169508849T>A	uc003maf.3	+	50	5371	c.5291T>A	c.(5290-5292)cTg>cAg	p.L1764Q	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.L1256Q|DOCK2_uc003mah.3_Missense_Mutation_p.L320Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1764					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.L1764M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGCCCTGGCGCTCTCA	0.627000													17	43					0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50000530	50000530	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:50000530A>C	uc002pob.1	+	1	175	c.95A>C	c.(94-96)aAg>aCg	p.K32T	SNORD35B_uc002poc.3_5'Flank	NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	32					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GGCAAGGAGAAGCTCCCGCGG	0.532000													16	63					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606062	13606062	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:13606062C>T	uc003gmz.1	-	9	2579	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H	BOD1L1_uc010idr.1_Missense_Mutation_p.R158H	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	821	Lys-rich.						DNA binding										GTTTTCTTTACGAACATTCTC	0.323000													3	18					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117058	117058	+	RNA	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrGL000205.1:117058G>A	uc002kgk.4	+	0		c.436G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAACTATAGAGTTTGTGAACA	0.433000													4	24					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111954061	111954061	+	Silent	SNP	C	C	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:111954061C>A	uc001tsj.3	-	9	1914	c.1752G>T	c.(1750-1752)ccG>ccT	p.P584P	ATXN2_uc001tsh.3_Silent_p.P319P|ATXN2_uc001tsi.3_Silent_p.P295P|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Silent_p.P319P	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	584	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCTGGAGGGCGGCCGTGTAG	0.637000													8	26					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466070	160466070	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:160466070A>T	uc001fwe.2	-	1	233	c.163T>A	c.(163-165)Tgg>Agg	p.W55R	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.W55R|SLAMF6_uc010pjh.2_Intron|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Intron	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	55						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGAAAAGCCAAGTGATGAAG	0.463000													59	168					0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167489162	167489162	+	Silent	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:167489162A>G	uc010jjd.3	+	6	1407	c.1407A>G	c.(1405-1407)tcA>tcG	p.S469S	ODZ2_uc003lzq.2_Silent_p.S348S|ODZ2_uc003lzr.4_Silent_p.S237S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTTGGAGGTCACAAATTCACA	0.498000													24	61					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691723	109691723	+	Missense_Mutation	SNP	C	C	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:109691723C>G	uc004bcz.3	+	2	5819	c.5530C>G	c.(5530-5532)Ctc>Gtc	p.L1844V	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.L1692V|ZNF462_uc004bda.3_Missense_Mutation_p.L1692V	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1844					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATCGAGTGGCTCCCATTCCG	0.522000													33	58					0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114401240	114401240	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr11:114401240A>T	uc001ppa.3	-	2	481	c.64T>A	c.(64-66)Tac>Aac	p.Y22N	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.Y164N	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	164						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		CTGACCAGGTAGGTGCCATTG	0.587000													27	60					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767776	143767776	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:143767776A>C	uc001ejt.3	-	0	106	c.73T>G	c.(73-75)Ttt>Gtt	p.F25V		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	25	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTGTCTGCAAACTGTTTGATG	0.478000													81	245					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123256220	123256220	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:123256220T>C	uc021pzz.1	-	12	2336	c.1689A>G	c.(1687-1689)atA>atG	p.I563M	FGFR2_uc021pzv.1_Missense_Mutation_p.I451M|FGFR2_uc021pzw.1_Missense_Mutation_p.I448M|FGFR2_uc021pzx.1_Missense_Mutation_p.I474M|FGFR2_uc021pzy.1_Missense_Mutation_p.I564M|FGFR2_uc010qtl.2_Missense_Mutation_p.I447M|FGFR2_uc010qtm.2_Missense_Mutation_p.I446M|FGFR2_uc021qaa.1_Missense_Mutation_p.I564M|FGFR2_uc021qab.1_Missense_Mutation_p.I475M|FGFR2_uc021qac.1_Missense_Mutation_p.I492M|FGFR2_uc001lfg.4_Missense_Mutation_p.I171M	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	563	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATACTCAACTATGACATAGA	0.498000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				27	71					0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33647512	33647512	+	RNA	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr16:33647512A>G	uc010vga.2	-	0		c.31T>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		GGCTGTACCAAGCCTCCCCCA	0.567000													7	164					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170149724	170149724	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:170149724T>A	uc003mas.3	+	5	897	c.368T>A	c.(367-369)gTa>gAa	p.V123E	KCNIP1_uc003map.3_Missense_Mutation_p.V121E|KCNIP1_uc003mat.3_Missense_Mutation_p.V112E|KCNIP1_uc010jjp.3_Missense_Mutation_p.V84E|KCNIP1_uc010jjq.3_Missense_Mutation_p.V137E	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	123	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGACTTTGTAACCGCTCTG	0.428000													7	35					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25810628	25810628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:25810628delG	uc001bkk.3	+	6	1378	c.1176delG	c.(1174-1176)aagfs	p.K392fs	TMEM57_uc009vru.3_Frame_Shift_Del_p.K165fs|TMEM57_uc009vrv.3_Frame_Shift_Del_p.K34fs	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	392						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTAAAAAGTTAAAGGCTG	0.542													9	142	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													4	8	---	---	---	---					
DERL2	51009	broad.mit.edu	37	17	5383387	5383387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:5383387delT	uc002gcc.1	-	5	614	c.601delA	c.(601-603)acafs	p.T201fs		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	201					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						ATAGATGGTGTTTTCAGAATT	0.398													28	80	---	---	---	---					
CPLX4	339302	broad.mit.edu	37	18	56985676	56985676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:56985676delT	uc002lhy.3	-	0	206	c.19delA	c.(19-21)agtfs	p.S7fs		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	7					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTATCATACTTTTCATAAGG	0.378													14	34	---	---	---	---					
