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
CCDC13	152206	broad.mit.edu	37	3	42784452	42784452	+	Missense_Mutation	SNP	G	G	A	rs143310118	by1000genomes	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:42784452G>A	uc003cly.4	-	7	1007	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	308								p.S308L(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTCCTGTGCCGACAGCTTCCT	0.572000													10	276					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	uc002hxf.2	-	1	658	c.597C>G	c.(595-597)gaC>gaG	p.D199E	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	199	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.D199E(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502000													4	96					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	uc021xgr.1	-	7	938	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.V161M|IFT80_uc021xgq.1_Missense_Mutation_p.V296M|IFT80_uc003fde.2_Missense_Mutation_p.V161M|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	298						cilium axoneme|microtubule basal body		p.V298M(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398000													8	219					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1633695	1633695	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:1633695G>T	uc002ftj.2	+	1	3818	c.3689G>T	c.(3688-3690)cGc>cTc	p.R1230L	WDR81_uc002fth.2_Missense_Mutation_p.R179L|WDR81_uc010vqp.1_Missense_Mutation_p.R27L|WDR81_uc002fti.2_Missense_Mutation_p.R3L|WDR81_uc010vqq.1_5'UTR	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	3								p.R179L(2)|p.R27L(2)|p.R1230L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGATGGTCCGCTGGCTGTCT	0.657000													3	39					0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	uc001bcu.3	-	2	308	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_uc001bcv.3_Missense_Mutation_p.K30N|PLA2G2A_uc010oda.2_Missense_Mutation_p.K30N|PLA2G2A_uc010odb.2_Missense_Mutation_p.K30N	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	30					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.K30N(2)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCGTCAACTTGATCATTC	0.557000													12	61					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114510461	114510461	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	uc001eem.3	+	11	2616	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_uc001eel.3_Silent_p.L819L|HIPK1_uc001een.3_Silent_p.L819L|HIPK1_uc001eeo.3_Silent_p.L445L|HIPK1_uc001eep.3_Silent_p.L425L|HIPK1_uc001eeq.3_Silent_p.L111L	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L819L(4)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488000													7	210					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	6					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448000													18	259					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	uc001gvs.2	-	1	503	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_uc009wzl.2_Missense_Mutation_p.Q62H|KIF21B_uc001gvr.2_Missense_Mutation_p.Q62H|KIF21B_uc010ppn.2_Missense_Mutation_p.Q62H	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	62	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q62H(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572000													11	99					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:43270068C>T	uc021yzt.1	+	7	1291	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_uc010jyl.1_Missense_Mutation_p.R399C|SLC22A7_uc003ous.3_Missense_Mutation_p.R396C|SLC22A7_uc003out.3_Missense_Mutation_p.R396C	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	398						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R398C(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTGTCGGTGCGCTACGCAGG	0.637000													14	35					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207351	148207351	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	uc003lpr.2	+	0	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	319					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.S319S(2)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATGTCAATTCTGGTTTCAATC	0.478000													15	142					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442220	103442220	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	uc001ymi.1	-	10	1619	c.1387_splice	c.e10+1	p.E463_splice		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	463					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E463Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCCCTCACCTTGCAGCTTC	0.662000													13	154					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171821588	171821588	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	uc003mbr.3	-	3	459	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_uc003mbs.1_Silent_p.I96I	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	96	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding	p.I96I(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCAATTGGTATCAGGCGTT	0.468000													9	67					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19559759	19559759	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:19559759G>A	uc002gwa.1	+	3	773	c.552G>A	c.(550-552)acG>acA	p.T184T	ALDH3A2_uc002gwb.1_Silent_p.T184T|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwd.1_5'UTR	NM_001031806	NP_001026976	P51648	AL3A2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A2 (ALDH3A2), transcript variant 1, mRNA.	184			T -> M (in SLS; severe loss of activity).|T -> R (in SLS; severe loss of activity).		cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	p.T184T(2)|p.T184M(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TTTTCTATACGGGAAACACTG	0.438000													32	167					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42807818	42807818	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr21:42807818G>A	uc010goq.3	+	3	506	c.160G>A	c.(160-162)Gac>Aac	p.D54N	MX1_uc002yzh.3_Missense_Mutation_p.D54N|MX1_uc002yzi.3_Missense_Mutation_p.D54N	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	54					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	p.D54N(2)|p.I53I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CCCCTGCATCGACCTCATTGA	0.582000													7	150					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118633	118633	+	RNA	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrGL000205.1:118633C>T	uc002kgk.4	+	0		c.2011C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGAAAACTGACAATGTCGTCT	0.373000													4	28					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	uc001dqh.3	-	21	3352	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1083	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1083A(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567000													9	144					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130357672	130357672	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:130357672G>T	uc003vqi.3	-	5	889	c.432C>A	c.(430-432)ccC>ccA	p.P144P	TSGA13_uc003vqj.3_Silent_p.P144P	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	144										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GAGGCATGCGGGGCAGCCAGA	0.468000													5	102					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95713710	95713710	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:95713710G>A	uc002stx.1	+	1	159	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.G34R|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	Homo sapiens mal, T-cell differentiation protein (MAL), transcript variant a, mRNA.	34	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	p.G34R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		GCAGATCTTCGGGGGCCTGGT	0.667000													26	60					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610895	42610895	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	uc003bcj.1	-	0	551	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_uc003bck.1_Silent_p.F139F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.F139F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577000													56	162					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	uc021tms.1	+	6	1989	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	ZNF778_uc010vpg.2_Missense_Mutation_p.E285D|ZNF778_uc002fmv.3_Missense_Mutation_p.E522D|ZNF778_uc002fmw.2_Missense_Mutation_p.E480D	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458000													7	108					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36360602	36360602	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36360602G>T	uc002oce.3	+	1	319	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	APLP1_uc010xsz.2_Missense_Mutation_p.G22W|APLP1_uc002ocf.3_Missense_Mutation_p.G61W|APLP1_uc002ocg.3_Intron|APLP1_uc010xta.2_Missense_Mutation_p.G55W	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	61					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGACTATGCGGGCGCCTAAC	0.687000													3	34					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157558993	157558993	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	uc001fqw.3	-	3	443	c.307_splice	c.e3+1	p.D103_splice	FCRL4_uc010phy.2_Splice_Site	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	103	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493000													18	146					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117188739	117188739	+	Silent	SNP	T	T	C	rs62469440	by1000genomes	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:117188739T>C	uc003vjd.3	+	9	1386	c.1254T>C	c.(1252-1254)aaT>aaC	p.N418N	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	418					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.N418N(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAATAACAATAGAAAAACTT	0.333000									Cystic Fibrosis				4	43					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130284	36130284	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	uc003gsq.2	-	20	3849	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1171	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.R1171R(2)|p.R1171K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358000													11	175					0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:41523608C>T	uc001znl.3	+	0	172	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CHP1_uc021sjk.1_Non-coding_Transcript|CHP1_uc021sjl.1_Non-coding_Transcript|EXD1_uc001znk.3_5'Flank|EXD1_uc010ucv.2_5'Flank	NM_007236	NP_009167	Q99653	CHP1_HUMAN	Homo sapiens calcium binding protein P22 (CHP), mRNA.	10					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677000													3	7					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667882	49667882	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:49667882G>T	uc001jgu.3	-	4	849	c.552C>A	c.(550-552)ggC>ggA	p.G184G	ARHGAP22_uc001jgs.3_Silent_p.G78G|ARHGAP22_uc001jgt.3_Silent_p.G168G|ARHGAP22_uc010qgl.2_Silent_p.G125G|ARHGAP22_uc010qgm.2_Silent_p.G174G|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	168	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGCGGGGGCCATACTTCC	0.652000													7	84					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108724127	108724127	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:108724127G>A	uc003dxl.3	-	18	1890	c.1803C>T	c.(1801-1803)ggC>ggT	p.G601G	MORC1_uc011bhn.2_Silent_p.G580G	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	601					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.G601G(4)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAGTCATCGCCCAAAAGCC	0.353000													7	153					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39914706	39914706	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	uc004den.4	-	11	4948	c.4656T>C	c.(4654-4656)taT>taC	p.Y1552Y	BCOR_uc004dep.4_Silent_p.Y1518Y|BCOR_uc004deo.4_Silent_p.Y1500Y|BCOR_uc010nhb.3_Silent_p.Y260Y|BCOR_uc004dem.4_Silent_p.Y1518Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1552					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	83					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000													4	40					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080405	30080405	+	Missense_Mutation	SNP	C	C	T	rs143020056	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:30080405C>T	uc003npg.1	-	1	288	c.178G>A	c.(178-180)Gta>Ata	p.V60I	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	60						mitochondrion	ligase activity|zinc ion binding	p.V60I(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTCTTCCTTACGGAAGTTTTG	0.473000													13	228					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27942065	27942065	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:27942065G>T	uc001boj.3	-	6	1044	c.898C>A	c.(898-900)Ccg>Acg	p.P300T	FGR_uc001boi.3_Missense_Mutation_p.P3T|FGR_uc001bok.3_Missense_Mutation_p.P300T|FGR_uc001bol.3_Missense_Mutation_p.P300T|FGR_uc001bom.3_Missense_Mutation_p.P300T	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	300	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGCCTTCGGGGACATGGTG	0.647000													5	95					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468360	86468360	+	Silent	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:86468360C>T	uc003uid.3	+	3	2629	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.S382S|GRM3_uc010leh.3_Silent_p.S102S	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	510					synaptic transmission	integral to plasma membrane		p.S510S(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCAGTGCAGCGACCCCTGTG	0.512000													35	134					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4874640	4874640	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:4874640G>A	uc001qne.1	+	9	1781	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	563	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A563A(2)|p.A563V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGGCAAGGCGGAGAAGCCCA	0.463000													5	98					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44004137	44004137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:44004137C>T	uc002xny.3	-	3	391	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	104					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		p.G104R(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCGGAGCACCCGATCTCCTGG	0.502000													43	326					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	uc001pxn.2	+	17	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_uc009zav.1_Missense_Mutation_p.R683H|GRIK4_uc009zaw.1_Missense_Mutation_p.R683H|GRIK4_uc009zax.1_Missense_Mutation_p.R683H	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	683					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R683H(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAGAATTCCCGCTACCAGACC	0.483000													5	42					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315914	30315914	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:30315914G>T	uc009xle.2	-	2	3300	c.3163C>A	c.(3163-3165)Cct>Act	p.P1055T	KIAA1462_uc001iux.3_Missense_Mutation_p.P1055T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P917T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1055										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTGCCCAGGGGTGAGCCCC	0.592000													13	438					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	uc010jij.1	-	3	792	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_uc011ddl.1_Missense_Mutation_p.P34S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P203S|HAVCR1_uc021ygj.1_Missense_Mutation_p.P203S|HAVCR1_uc021ygk.1_Missense_Mutation_p.P34S|HAVCR1_uc011ddm.2_Missense_Mutation_p.P203S	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	198	Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.P203S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468000													67	448					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75833100	75833100	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:75833100G>T	uc021zbv.1	-	41	6927	c.6892C>A	c.(6892-6894)Cct>Act	p.P2298T	COL12A1_uc021zbw.1_Missense_Mutation_p.P1134T|COL12A1_uc003phs.3_Missense_Mutation_p.P2298T|COL12A1_uc003pht.3_Missense_Mutation_p.P1134T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2298					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGCTCTGTAGGGGCTTCTGTT	0.418000													4	36					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846388	20846388	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:20846388C>A	uc001vxe.3	-	38	5556	c.5516G>T	c.(5515-5517)gGg>gTg	p.G1839V	TEP1_uc010ahk.3_Missense_Mutation_p.G1182V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.G1731V|TEP1_uc010tlh.1_Missense_Mutation_p.G177V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1839					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGGGTGCCCCCAGGTCCTA	0.592000													5	95					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63976243	63976243	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	uc001srp.1	-	17	1849	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_uc010sso.1_Silent_p.L3L	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	556					multicellular organismal development|spermatid development	integral to membrane		p.L556L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343000													23	82					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	uc021ulp.1	-	3	3341	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1008					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1008L(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706000													25	29					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37125219	37125219	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	uc003cgp.2	-	19	1609	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_uc011ayf.1_Silent_p.L212L|LRRFIP2_uc003cgs.3_Silent_p.L164L|LRRFIP2_uc003cgt.3_Silent_p.L140L	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	396					Wnt receptor signaling pathway		LRR domain binding	p.L396L(2)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353000													58	207					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	uc001uvn.3	-	7	1801	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_uc010ten.2_Missense_Mutation_p.P501S|SPG20_uc001uvm.3_Missense_Mutation_p.P511S|SPG20_uc001uvo.3_Missense_Mutation_p.P511S|SPG20_uc001uvq.3_Missense_Mutation_p.P511S	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	511					cell death	cytoplasm	ubiquitin protein ligase binding	p.P511S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGACATGTGGAGCTAGTTCT	0.368000													42	283					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:55956221G>A	uc003has.3	-	22	3396	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(2)|p.R1032*(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	210					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099282	168099282	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	uc002udx.3	+	8	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.L285L|XIRP2_uc010fpq.3_Silent_p.L238L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	285					actin cytoskeleton organization	cell junction	actin binding	p.L460L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACGTACTTCAAACTTCAG	0.448000													24	188					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91961	91961	+	RNA	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrGL000211.1:91961C>T	uc003bnz.1	+	6		c.1317C>T			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTATAGATTTCCATTATTGTC	0.308000													3	37					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	uc001uox.4	-	2	573	c.445G>T	c.(445-447)Gta>Tta	p.V149L		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	149					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.V149L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502000													11	115					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25833004	25833004	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	uc003cdn.3	+	1	600	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Silent_p.L165L|OXSM_uc011awp.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.L165L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423000													29	268					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253748	134253748	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:134253748G>T	uc001qhq.3	-	3	708	c.447C>A	c.(445-447)ccC>ccA	p.P149P	B3GAT1_uc001qhr.3_Silent_p.P149P|B3GAT1_uc010scv.1_Silent_p.P162P	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	149					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGTAGTTGCGGGGCGTCTCCA	0.731000													3	16					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276736	186276736	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:186276736C>A	uc001gru.4	+	6	1936	c.1885C>A	c.(1885-1887)Ccc>Acc	p.P629T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P588T|PRG4_uc009wyl.3_Missense_Mutation_p.P536T|PRG4_uc009wym.3_Missense_Mutation_p.P495T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	629	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCCCACCACCCCCGAGAAGCT	0.672000													4	24					0	0	1	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577000													3	24					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340607	136340607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136340607G>T	uc004cee.3	-	4	784	c.689C>A	c.(688-690)gCc>gAc	p.A230D	SLC2A6_uc004cef.3_Missense_Mutation_p.A230D|SLC2A6_uc004ceg.3_Missense_Mutation_p.A207D|SLC2A6_uc011mdj.1_3'UTR	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	230						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	p.A230D(6)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCCCGCAGGGCCTCTTCGTC	0.667000													4	38					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446111	51446111	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:51446111G>A	uc001wyx.4	-	8	2829	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	TRIM9_uc001wyy.2_Silent_p.N769N	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	688	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.N688N(3)|p.N769N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTACCTGCACGTTCCTGTTCA	0.512000													65	203					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	uc002vpx.1	-	26	4020	c.3911A>G	c.(3910-3912)cAg>cGg	p.Q1304R	TRIP12_uc021vxw.1_Missense_Mutation_p.Q1289R|TRIP12_uc002vpy.1_Missense_Mutation_p.Q986R|TRIP12_uc002vpw.1_Missense_Mutation_p.Q1256R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328000													16	119					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713982	10713982	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:10713982delC	uc001aro.3	-	10	2452	c.2132delG	c.(2131-2133)ggcfs	p.G711fs	CASZ1_uc001arp.1_Frame_Shift_Del_p.G711fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.G735fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCCTTGGCGCCCAGCAGCGA	0.662													9	124	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	-	-	rs143222885	by1000genomes	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:152082957_152082959delCTC	uc009wne.1	-	2	3006_3008	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del	TCHH_uc001ezp.2_In_Frame_Del_p.E912del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													7	513	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:109087883_109087884insA	uc002tec.3	+	5	2252_2253	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													7	565	---	---	---	---					
CCNYL1	151195	broad.mit.edu	37	2	208618360	208618362	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	uc002vci.3	+	7	1222_1224	c.865_867delAGA	c.(865-867)agadel	p.R290del	CCNYL1_uc002vch.3_In_Frame_Del_p.R271del|CCNYL1_uc021vvq.1_5'Flank	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	Homo sapiens cyclin Y-like 1 (CCNYL1), transcript variant 1, mRNA.	341					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404													72	356	---	---	---	---					
UBA6	55236	broad.mit.edu	37	4	68529609	68529610	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	uc003hdg.4	-	10	1005_1006	c.953_954insA	c.(952-954)aacfs	p.N318fs	UBA6_uc003hdi.3_Frame_Shift_Ins_p.N318fs|UBA6_uc003hdj.2_Frame_Shift_Ins_p.N318fs	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	318					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.S317R(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386													8	279	---	---	---	---					
SURF4	6836	broad.mit.edu	37	9	136231748	136231748	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	uc004cdj.3	-	4	641	c.511delA	c.(511-513)accfs	p.T171fs	SURF4_uc011mda.2_Frame_Shift_Del_p.T162fs|SURF4_uc010nal.3_Intron|SURF4_uc011mdd.2_Intron|SURF4_uc011mdb.2_Frame_Shift_Del_p.T128fs|SURF4_uc011mdc.2_Frame_Shift_Del_p.T128fs	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	171						ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562													12	69	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													3	3	---	---	---	---					
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	uc022cfm.1	-	0	1182	c.1182delA	c.(1180-1182)gtafs	p.V394fs	SLITRK4_uc022cfl.1_Frame_Shift_Del_p.V394fs|SLITRK4_uc004fbx.3_Frame_Shift_Del_p.V394fs|SLITRK4_uc004fby.3_Frame_Shift_Del_p.V394fs	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	394						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393													110	164	---	---	---	---					
