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
IRX2	153572	broad.mit.edu	37	5	2748624	2748624	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:2748624C>T	uc003jda.3	-	2	1440	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T	IRX2_uc003jdb.3_Missense_Mutation_p.A400T	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	400						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCGCCGCGTTCAAGTTC	0.706000													5	34					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7727530	7727530	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:7727530A>T	uc002giu.1	+	74	11584	c.11570A>T	c.(11569-11571)cAc>cTc	p.H3857L	DNAH2_uc010cnm.1_Missense_Mutation_p.H795L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3857	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGCAGAGCACATGGGCATG	0.662000													44	35					0	0	1	0	0
POLD4	57804	broad.mit.edu	37	11	67120525	67120525	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr11:67120525C>T	uc001okm.3	-	1	303	c.121G>A	c.(121-123)Gag>Aag	p.E41K	LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.	41					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GCTTCCTCCTCGTCGCGGGGC	0.667000													3	53					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9683003	9683003	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:9683003C>T	uc004csr.3	+	16	2154	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	TBL1X_uc004csq.4_Missense_Mutation_p.A505V|TBL1X_uc010ndr.3_Missense_Mutation_p.A505V|TBL1X_uc010ndq.3_Missense_Mutation_p.A556V|TBL1X_uc004css.3_Missense_Mutation_p.A507V	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	556					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N555N(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGCTGGAACGCCCGAGGAGAC	0.592000													62	71					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78194350	78194350	+	Silent	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:78194350T>C	uc001dht.3	-	10	1205	c.858A>G	c.(856-858)gaA>gaG	p.E286E	USP33_uc001dhs.3_Silent_p.E7E|USP33_uc001dhu.3_Silent_p.E255E|USP33_uc001dhv.3_Silent_p.E91E|USP33_uc001dhw.3_Silent_p.E286E	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	286					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCTCTTTCAATTCTTCATGAA	0.368000													14	18					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													6	205					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19285118	19285118	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:19285118C>A	uc002gvn.3	+	4	1888	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	MAPK7_uc002gvo.3_Missense_Mutation_p.A362D|MAPK7_uc002gvq.3_Missense_Mutation_p.A501D|MAPK7_uc002gvp.3_Missense_Mutation_p.A501D	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	501	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.A501D(2)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCTGGAGGCTCCTGAGCCT	0.672000													11	60					3.07112e-06	3.23623e-06	1	1	0
MSH3	4437	broad.mit.edu	37	5	79970928	79970928	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:79970928A>T	uc003kgz.3	+	6	1407	c.1154A>T	c.(1153-1155)aAc>aTc	p.N385I		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	385					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AAAAAGGGCAACATTTTTATT	0.333000								Mismatch excision repair (MMR)					30	42					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873700	91873700	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:91873700C>T	uc004efk.2	+	6	4650	c.3805C>T	c.(3805-3807)Cgt>Tgt	p.R1269C	PCDH11X_uc004efl.2_Missense_Mutation_p.R1259C|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.R1261C|PCDH11X_uc004efn.2_Missense_Mutation_p.R1251C|PCDH11X_uc004efo.2_Missense_Mutation_p.R1232C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1269					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCCTCCATCGTAGTCAGGC	0.552000													20	595					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077779	9077779	+	Missense_Mutation	SNP	T	T	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr19:9077779T>G	uc002mkp.3	-	2	9871	c.9667A>C	c.(9667-9669)Act>Cct	p.T3223P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3224	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCTCACAGTGGACCTGATC	0.512000													32	71					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	T	C	rs79284655		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr16:32890639T>C	uc002edh.1	-	4	423	c.247A>G	c.(247-249)Aag>Gag	p.K83E	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ACCAGCGGCTTGTAGTACACA	0.627000													5	86					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57894254	57894254	+	Silent	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr12:57894254G>C	uc001sog.3	+	9	1396	c.1242G>C	c.(1240-1242)cgG>cgC	p.R414R	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Silent_p.R287R|MARS_uc010srq.1_Silent_p.R180R	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	414					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AGGAGGCTCGGGGTGACCAGT	0.562000													37	113					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53913972	53913972	+	Silent	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:53913972T>C	uc003dhd.3	-	1	389	c.288A>G	c.(286-288)ggA>ggG	p.G96G	ACTR8_uc003dhb.3_5'Flank|ACTR8_uc003dhc.3_5'UTR	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	96					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTACATTTAGTCCCTCCCTTA	0.478000													58	41					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20988333	20988333	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:20988333G>A	uc003zog.1	+	42	5272	c.4909G>A	c.(4909-4911)Gtt>Att	p.V1637I	FOCAD_uc003zoh.1_Missense_Mutation_p.V1073I	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1637						integral to membrane	binding										CATTTCAGGCGTTTTGAAGAG	0.378000													5	63					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33393615	33393615	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:33393615G>C	uc011dri.2	+	2	425	c.230G>C	c.(229-231)aGt>aCt	p.S77T	SYNGAP1_uc003oeo.1_Missense_Mutation_p.S62T|SYNGAP1_uc010juy.3_Missense_Mutation_p.S62T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	77					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGCGAGTCCAGTCGCAACAAA	0.682000													32	67					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64892965	64892965	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:64892965C>T	uc003jty.3	-	7	1308	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	TRIM23_uc003jtw.3_Missense_Mutation_p.V408I|TRIM23_uc003jtx.3_Missense_Mutation_p.V408I	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	408	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V408I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCTAACGTAACGACCCGAATT	0.323000													4	62					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454107	35454107	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr11:35454107G>A	uc001mwf.3	-	11	2054	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S	PAMR1_uc001mwg.3_Missense_Mutation_p.P654S|PAMR1_uc010rew.2_Missense_Mutation_p.P543S|PAMR1_uc010rex.2_Missense_Mutation_p.P614S	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	654	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P671P(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGGCAGTGGGTTCCCAGCTG	0.592000													42	39					0	0	1	0	0
C21orf67	84536	broad.mit.edu	37	21	46355710	46355710	+	Silent	SNP	A	A	G	rs11088971	by1000genomes	TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr21:46355710A>G	uc011afm.2	-	1	417	c.171T>C	c.(169-171)cgT>cgC	p.R57R	C21orf67_uc002zgj.4_Silent_p.R54R|C21orf67_uc002zgk.4_Silent_p.R57R					Homo sapiens chromosome 21 open reading frame 67 (C21orf67), transcript variant 1, non-coding RNA.											breast(1)	1						CAGGATCCTCACGCGTGCCGC	0.622000													4	24					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295575	7295575	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr12:7295575G>C	uc001qss.3	+	9	2225	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	CLSTN3_uc001qsr.3_Missense_Mutation_p.E551Q	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	551					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCATGTCGGGAGGGGCTGGA	0.602000													82	57					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48053578	48053578	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:48053578G>T	uc004diz.1	-	4	443	c.390C>A	c.(388-390)aaC>aaA	p.N130K	SSX5_uc004dja.1_Missense_Mutation_p.N89K	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GATTCCCACGGTTAGGGTCAT	0.498000													17	635					3.08376e-08	3.35787e-08	1	1	0
C18orf42	642597	broad.mit.edu	37	18	5145687	5145687	+	Silent	SNP	A	A	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr18:5145687A>G	uc010wzc.1	-	1	287	c.84T>C	c.(82-84)aaT>aaC	p.N28N		NM_001145194	NP_001138666	P0CW23	CR042_HUMAN	Homo sapiens chromosome 18 open reading frame 42 (C18orf42), mRNA.	28																	GCAGGATTGCATTCTGCACAA	0.512000													3	59					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862809	31862809	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr7:31862809C>A	uc003tcm.2	-	13	1921	c.1460G>T	c.(1459-1461)gGt>gTt	p.G487V	PDE1C_uc003tcn.1_Missense_Mutation_p.G487V|PDE1C_uc003tco.2_Missense_Mutation_p.G547V|PDE1C_uc003tcr.3_Missense_Mutation_p.G487V|PDE1C_uc003tcs.3_Missense_Mutation_p.G487V	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	487	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCCCTCTGAACCAGAGGTCTT	0.443000													31	67					6.05902e-23	7.24127e-23	1	1	0
ABCA4	24	broad.mit.edu	37	1	94546179	94546179	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:94546179G>A	uc001dqh.3	-	7	1058	c.954C>T	c.(952-954)atC>atT	p.I318I	ABCA4_uc010otn.1_Silent_p.I318I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	318					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)		GGTCAGACAGGATGCCCATCA	0.542000													26	59					0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622318	241622318	+	Splice_Site	SNP	C	C	T	rs139037294	by1000genomes	TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr2:241622318C>T	uc010fzj.3	-	1	1	c.-62_splice	c.e1-1		AQP12B_uc002vzt.3_Non-coding_Transcript	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.							integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AGGAGCTGGCCGGTTCCCACA	0.672000													4	33					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41689069	41689069	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:41689069G>A	uc001znx.3	-	1	587	c.189C>T	c.(187-189)caC>caT	p.H63H	NDUFAF1_uc010bcf.3_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	63					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTTCTTTCTGGTGATCTCCTT	0.423000													22	33					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2937874	2937874	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr11:2937874G>T	uc001lwx.3	+	5	777	c.559G>T	c.(559-561)Gct>Tct	p.A187S	SLC22A18_uc001lwy.3_Missense_Mutation_p.A187S	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	187					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCATCCTGGCTGCCCTGGC	0.687000													41	57					2.51966e-14	2.87124e-14	1	1	0
ERC2	26059	broad.mit.edu	37	3	56114913	56114913	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:56114913C>T	uc021wzo.1	-	5	1713	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	ERC2_uc003dhr.1_Missense_Mutation_p.G525S|ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	525						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGAATTTCACCGGCCAGTGTC	0.408000													4	49					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44855441	44855441	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:44855441A>T	uc001ztx.3	-	39	7241	c.7210T>A	c.(7210-7212)Tat>Aat	p.Y2404N	SPG11_uc010bdw.3_Missense_Mutation_p.Y534N|SPG11_uc010ueh.2_Missense_Mutation_p.Y2291N|SPG11_uc010uei.2_3'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2404					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTCACAATATGTGAGTAAT	0.348000													32	45					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99160073	99160073	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:99160073C>T	uc001knf.3	-	1	497	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RRP12_uc010qou.2_Missense_Mutation_p.A120T|RRP12_uc009xvn.3_Missense_Mutation_p.A120T	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	120						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTTGTGGGCAGCCGAGTTG	0.582000													18	47					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037862	48037862	+	Silent	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr4:48037862T>C	uc003gxw.3	+	5	972	c.906T>C	c.(904-906)aaT>aaC	p.N302N		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	302						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACACCTTTAATACCTCTCTTG	0.423000													48	70					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310106	178310106	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:178310106C>T	uc003mjl.3	+	4	879	c.653C>T	c.(652-654)aCa>aTa	p.T218I	ZNF354B_uc003mjm.3_Missense_Mutation_p.T218I	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAATGCAGTACATGTGAAAAA	0.299000													26	41					0	0	1	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072805	90072805	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr16:90072805G>T	uc002fqe.1	-	3	549	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	DBNDD1_uc002fqf.1_Missense_Mutation_p.P139T|DBNDD1_uc002fqg.1_Non-coding_Transcript	NM_024043	NP_076948	Q9H9R9	DBND1_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 1 (DBNDD1), transcript variant 2, mRNA.	139						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCCGCTCGGGGTCGCCTAGG	0.677000													14	37					2.62699e-14	2.95914e-14	1	1	0
TEKT2	27285	broad.mit.edu	37	1	36552574	36552574	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:36552574C>T	uc001bzr.3	+	5	802	c.675C>T	c.(673-675)aaC>aaT	p.N225N	TEKT2_uc001bzs.3_Silent_p.N131N|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	225					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGGTTCAACAAGGACCGAG	0.592000													17	23					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770159	35770159	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr13:35770159G>T	uc021rid.1	+	30	5620	c.5086G>T	c.(5086-5088)Ggc>Tgc	p.G1696C	NBEA_uc021ric.1_Missense_Mutation_p.G1693C|NBEA_uc010abi.3_Missense_Mutation_p.G352C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1696						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AACAAGTACAGGCCCTGATGC	0.433000													46	45					6.3008e-33	7.71848e-33	1	1	0
TOPORS	10210	broad.mit.edu	37	9	32541932	32541932	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:32541932C>T	uc003zrb.3	-	2	2783	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	TOPORS_uc003zrc.3_Missense_Mutation_p.S799N	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	864	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TACACTTAGGCTCCGGGTCTT	0.358000													10	22					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348665	150348665	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:150348665G>A	uc010ntg.2	+	1	748	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	GPR50_uc011myc.2_Missense_Mutation_p.V204M	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	204					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCATCGTGGGTTTCTG	0.532000													11	29					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367789	142367789	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:142367789A>T	uc022bby.1	-	0	235	c.235T>A	c.(235-237)Tgc>Agc	p.C79S	GPR20_uc003ywf.3_Missense_Mutation_p.C79S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	79						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGCGGCAGCAGAAGACGTAC	0.647000													40	93					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36702092	36702092	+	Silent	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr22:36702092G>T	uc003apg.3	-	16	2274	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	MYH9_uc003aph.1_Silent_p.G545G	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	681	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.G681G(2)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCCAGCTTGCCGGCCTGGA	0.597000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	57					0.0293803	0.0296832	1	1	0
MATN2	4147	broad.mit.edu	37	8	99039960	99039960	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:99039960G>T	uc003yic.3	+	13	2490	c.2259G>T	c.(2257-2259)agG>agT	p.R753S	MATN2_uc010mbh.1_Missense_Mutation_p.R712S|MATN2_uc003yid.3_Missense_Mutation_p.R753S|MATN2_uc003yie.1_Missense_Mutation_p.R753S|MATN2_uc010mbi.1_Missense_Mutation_p.R586S|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	753	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAGGGGCCAGGCCCCTTTCCA	0.562000													40	63					4.10826e-27	4.97049e-27	1	1	0
IGF2BP2	10644	broad.mit.edu	37	3	185542743	185542743	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:185542743C>G	uc003fpo.3	-	0	85	c.6G>C	c.(4-6)atG>atC	p.M2I	IGF2BP2_uc003fpp.3_Missense_Mutation_p.M2I|IGF2BP2_uc003fpq.3_Missense_Mutation_p.M1I	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	2					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AAAGCTTGTTCATCATCCGTC	0.706000													22	105					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24465122	24465122	+	Missense_Mutation	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:24465122G>T	uc001biq.2	-	1	329	c.126C>A	c.(124-126)gaC>gaA	p.D42E	IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Missense_Mutation_p.D42E	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	42	Fibronectin type-III 1.					integral to membrane	interferon receptor activity	p.W41C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCGGCCCGCTGTCCCACGTCA	0.592000													3	55					0.00909568	0.00928517	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10273887	10273887	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr16:10273887G>C	uc010uym.2	-	2	692	c.382C>G	c.(382-384)Cat>Gat	p.H128D	GRIN2A_uc002czo.4_Missense_Mutation_p.H128D|GRIN2A_uc002czr.4_Missense_Mutation_p.H128D|GRIN2A_uc010buk.3_Missense_Mutation_p.H128D	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	128					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGCCCCCATGAATGCCCAAG	0.597000													34	93					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31962347	31962347	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:31962347G>A	uc011doy.2	+	20	2716	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	C4B_uc011doz.2_Missense_Mutation_p.V889M	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	889					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCAGGTGCTGGTGCCTGCGGG	0.687000													30	87					0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161559585	161559585	+	RNA	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:161559585C>T	uc009wuj.2	+	2		c.466C>T			FCGR2C_uc009wuk.2_Non-coding_Transcript|FCGR2C_uc021pdh.1_Non-coding_Transcript|FCGR2C_uc021pdi.1_Non-coding_Transcript|FCGR2C_uc021pdj.1_Non-coding_Transcript					Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTCAGCGACCCTGTGCATCT	0.587000													39	195					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137717257	137717257	+	Missense_Mutation	SNP	A	A	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr5:137717257A>C	uc003lcy.1	+	5	958	c.758A>C	c.(757-759)gAt>gCt	p.D253A	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	253					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATGCTGATGGATAATTCAGCG	0.433000													16	32					0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874285	31874285	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr21:31874285C>T	uc011ada.2	-	0	124	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	42						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCGTAGCCTCCGTAGCCACCG	0.572000													29	11					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592879	2592879	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr20:2592879C>G	uc002wgf.1	+	12	1651	c.1636C>G	c.(1636-1638)Ctg>Gtg	p.L546V	TMC2_uc002wgg.1_Missense_Mutation_p.L530V|TMC2_uc010zpw.1_Missense_Mutation_p.L378V|TMC2_uc010zpx.1_Missense_Mutation_p.L377V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	546						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCACTGGACTCTGTTTAACTA	0.512000													7	53					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141771172	141771172	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr2:141771172C>A	uc002tvj.1	-	13	3305	c.2333G>T	c.(2332-2334)aGa>aTa	p.R778I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	778					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGGTGGTCTTTCATGCCT	0.343000										TSP Lung(27;0.18)			34	107					1.07637e-12	1.19868e-12	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56390202	56390202	+	Silent	SNP	C	C	G	rs139521551	byFrequency	TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr19:56390202C>G	uc002qmd.4	+	8	3161	c.2739C>G	c.(2737-2739)ctC>ctG	p.L913L	NLRP4_uc002qmf.3_Silent_p.L838L|NLRP4_uc010etf.3_Silent_p.L688L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	913							ATP binding	p.D912N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTAAGGATCTCGCGTCTGTTC	0.542000													4	124					0	0	1	0	0
PTPLA	9200	broad.mit.edu	37	10	17636308	17636308	+	Missense_Mutation	SNP	T	T	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:17636308T>A	uc001ipg.3	-	5	715	c.680A>T	c.(679-681)cAt>cTt	p.H227L		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	Homo sapiens protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A (PTPLA), mRNA.	227			H -> Y (in dbSNP:rs1053926).		fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						TTTCTTCACATGCGGCAAGGC	0.323000													3	66					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71802352	71802352	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:71802352G>A	uc004eax.4	-	30	3695	c.3394C>T	c.(3394-3396)Ctt>Ttt	p.L1132F	PHKA1_uc004eay.4_Missense_Mutation_p.L1119F|PHKA1_uc011mqi.2_Missense_Mutation_p.L1060F|PHKA1_uc010nll.3_Missense_Mutation_p.L164F	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1132					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTGAGGACAAGGATGGCTTCA	0.448000													67	161					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15227275	15227275	+	Silent	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr19:15227275G>T	uc002nam.3	-	10	1366	c.1245C>A	c.(1243-1245)gcC>gcA	p.A415A		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	415						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCCAGTCTGGGGCCCAGGTCT	0.647000													3	67					0.004672	0.00481954	1	1	0
ANK3	288	broad.mit.edu	37	10	61829169	61829169	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:61829169C>T	uc001jky.3	-	36	11808	c.11470G>A	c.(11470-11472)Gtg>Atg	p.V3824M	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3824					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGACTTTCACTGGGTTATCT	0.378000													19	30					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40056080	40056080	+	Silent	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:40056080C>T	uc001zki.3	-	4	719	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	167										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTCCATCTCCTCTTTACTTT	0.299000													36	54					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160902	12160902	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:12160902T>C	uc001ild.4	+	14	2656	c.2557T>C	c.(2557-2559)Tac>Cac	p.Y853H		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	853					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATGAGCAAATACAAACATGT	0.433000													16	20					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091620	74091620	+	Missense_Mutation	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr18:74091620C>G	uc021ulp.1	-	3	2768	c.2450G>C	c.(2449-2451)gGc>gCc	p.G817A	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		AGGCGGGGGGCCCGTGCGTCC	0.622000													29	48					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101387350	101387350	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:101387350A>G	uc001dtn.2	+	7	982	c.795A>G	c.(793-795)atA>atG	p.I265M	SLC30A7_uc001dto.2_Missense_Mutation_p.I265M	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	265					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GTCTGATGATAGCAGATCCTA	0.328000													10	14					0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr13:50235160G>C	uc001vdg.3	-	3	628	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(18)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418000													3	76					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139262487	139262487	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:139262487A>T	uc003qii.3	-	7	1699	c.1120T>A	c.(1120-1122)Ttg>Atg	p.L374M	REPS1_uc003qig.4_Missense_Mutation_p.L374M|REPS1_uc011edr.2_Missense_Mutation_p.L374M|REPS1_uc003qij.3_Missense_Mutation_p.L374M|REPS1_uc003qik.3_Missense_Mutation_p.L7M	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	374	EH 2.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GAATCTTCCAAATCAATCAGT	0.388000													8	39					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658844	39658844	+	Silent	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:39658844T>C	uc002hwu.1	-	5	1089	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	KRT13_uc002hwv.1_Silent_p.K342K|KRT13_uc010wfr.2_Silent_p.K235K|KRT13_uc010cxo.3_Silent_p.K342K|KRT13_uc021txk.1_Silent_p.K235K	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	342	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.M341I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCAGCCCCGCTTTCTGGTGGA	0.627000													16	39					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3869791	3869791	+	Missense_Mutation	SNP	C	C	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr20:3869791C>T	uc002wkc.3	+	0	50	c.44C>T	c.(43-45)gCg>gTg	p.A15V	BC012193_uc002wjz.2_5'Flank|BC012193_uc002wka.1_5'Flank|PANK2_uc002wkb.3_Intron|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_5'Flank|PANK2_uc002wkf.3_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	15					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATTGGGCGGCGCCGCCATCA	0.701000													30	65					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813800	24813800	+	Missense_Mutation	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:24813800G>A	uc003xee.3	-	0	332	c.230C>T	c.(229-231)gCc>gTc	p.A77V		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	77	Head.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCTGATGGCGGCTACCTGGCT	0.637000													11	125					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703695	88703695	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr10:88703695G>A	uc001kea.3	-	5	973	c.846C>T	c.(844-846)gcC>gcT	p.A282A	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.A239A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	282						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGTCAGCCCTGGCCACGGCAC	0.602000													30	41					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912886	26912886	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr17:26912886T>C	uc002hbq.3	-	6	1828	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	579					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCTTACCGCATCCTTGCCTCT	0.498000													41	28					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8038748	8038748	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr19:8038748G>A	uc002mjb.3	-	3	458	c.291C>T	c.(289-291)cgC>cgT	p.R97R		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	97	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.R97L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGAGCTCGGGCGAGCATACG	0.542000													29	122					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824167	2824167	+	Missense_Mutation	SNP	A	A	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr8:2824167A>G	uc022aqr.1	-	57	9415	c.9025T>C	c.(9025-9027)Tac>Cac	p.Y3009H	CSMD1_uc011kwj.2_Missense_Mutation_p.Y2339H|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3010	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGTCTTGTAGCCTTCCCAG	0.547000													40	57					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573643	90573643	+	Missense_Mutation	SNP	T	T	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:90573643T>C	uc003pnr.3	+	6	2411	c.2215T>C	c.(2215-2217)Tat>Cat	p.Y739H	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.Y739H|CASP8AP2_uc011dzz.2_Missense_Mutation_p.Y739H	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	739					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAATTCAGATTATTGTGGTAT	0.403000													3	49					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777085	137777085	+	Splice_Site	SNP	G	G	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:137777085G>T	uc004cfg.1	+	5	312	c.302_splice	c.e5-1	p.G101_splice	FCN2_uc004cfh.1_Splice_Site_p.G63_splice	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	101	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTTCCCAGGCCCGCGTACC	0.667000													14	27					2.31682e-05	2.41541e-05	1	1	0
RNF25	64320	broad.mit.edu	37	2	219536685	219536685	+	Silent	SNP	C	C	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr2:219536685C>G	uc002vit.3	-	0	97	c.9G>C	c.(7-9)gcG>gcC	p.A3A	STK36_uc002viu.3_5'Flank|STK36_uc002viv.3_5'Flank|RNF25_uc010fvw.3_5'UTR	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	3					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGACGCAGACGCCGCCATAT	0.612000													112	67					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847782	49847782	+	Missense_Mutation	SNP	A	A	T			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:49847782A>T	uc003cxr.3	-	12	1718	c.1547T>A	c.(1546-1548)cTg>cAg	p.L516Q		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	516	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTGGGATCCAGTGGGTAGGT	0.587000													117	83					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67519574	67519574	+	Silent	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:67519574C>A	uc001ddk.2	-	0	507	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SLC35D1_uc010oph.2_5'Flank	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	41					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CCAGCAGCTTCAGAAACACGG	0.612000													26	51					6.00712e-18	7.09275e-18	1	1	0
C15orf42	90381	broad.mit.edu	37	15	90167321	90167321	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr15:90167321G>A	uc002boe.3	+	19	3780	c.3780G>A	c.(3778-3780)acG>acA	p.T1260T	C15orf42_uc021sug.1_Silent_p.T1259T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1260	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATGGGCACGCCTCAGAATC	0.542000													12	20					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037280	75037280	+	Missense_Mutation	SNP	C	C	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:75037280C>A	uc001dgg.3	-	13	4333	c.4114G>T	c.(4114-4116)Gca>Tca	p.A1372S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1372	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTTATTTGCTATTGTTTTC	0.522000													31	47					5.8336e-16	6.7258e-16	1	1	0
GMPPB	29925	broad.mit.edu	37	3	49759370	49759370	+	Missense_Mutation	SNP	C	C	T	rs71324991		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr3:49759370C>T	uc003cxl.1	-	7	1204	c.979G>A	c.(979-981)Gag>Aag	p.E327K	AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Intron	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	317					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGCCCCTCTCCCCACCCAGC	0.632000													59	34					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743060	234743060	+	Silent	SNP	G	G	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:234743060G>A	uc001hwg.3	-	1	1618	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	IRF2BP2_uc009xfw.3_Silent_p.F139F|IRF2BP2_uc001hwf.3_Silent_p.F513F	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	529	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.F529C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AAGGGAAGCAGAACTTGTGCG	0.587000													30	47					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222803477	222803477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr1:222803477delA	uc001hnl.3	+	3	2924	c.2915delA	c.(2914-2916)gaafs	p.E972fs	MIA3_uc009xea.1_Frame_Shift_Del_p.E808fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	972					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.V974fs*4(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TATAATATGGAAAAAGTCCTA	0.428													32	43	---	---	---	---					
FAM46A	55603	broad.mit.edu	37	6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr6:82461728_82461742delCCGCCGAAGTCGCCG	uc003pjf.3	-	1	487_501	c.174_188delCGGCGACTTCGGCGG	c.(172-189)ggcggcgacttcggcggt>ggt	p.58_63GGDFGG>G	FAM46A_uc003pjg.3_In_Frame_Del_p.39_44GGDFGG>G|FAM46A_uc003pjh.1_In_Frame_Del_p.39_44GGDFGG>G	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	39										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		gctgccgccaccgccgaagtcgccgccgccgaagt	0.670													12	44	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr7:20824941_20824943delGCC	uc003suz.3	-	1	584_586	c.493_495delGGC	c.(493-495)ggcdel	p.G165del	SP8_uc003suy.3_In_Frame_Del_p.G147del|SP8_uc022aak.1_In_Frame_Del_p.G147del	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													9	13	---	---	---	---					
DQ590227	0	broad.mit.edu	37	7	149578672	149578673	+	RNA	INS	-	-	G	rs112014832	by1000genomes	TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr7:149578672_149578673insG	uc003wgt.1	+	0		c.109_110insG								Homo sapiens cDNA clone IMAGE:40014135.																		GCTGGCTGGGCGGTGGGGCGGA	0.604													2	4	---	---	---	---					
PRRC2B	84726	broad.mit.edu	37	9	134351684	134351685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr9:134351684_134351685insG	uc004can.4	+	14	4223_4224	c.4168_4169insG	c.(4168-4170)cggfs	p.R1390fs	PRRC2B_uc010mzj.1_Frame_Shift_Ins_p.R973fs|PRRC2B_uc004cao.4_Frame_Shift_Ins_p.R748fs	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1390							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCGGGAGCGGCGGGAAGGCCCT	0.649											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	70	---	---	---	---					
SLC14A1	6563	broad.mit.edu	37	18	43316457	43316458	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr18:43316457_43316458insA	uc010dnk.3	+	6	897_898	c.675_676insA	c.(673-678)agcaaafs	p.S225fs	SLC14A1_uc002lbi.4_Frame_Shift_Ins_p.S37fs|SLC14A1_uc010xcn.2_Frame_Shift_Ins_p.S169fs|SLC14A1_uc002lbf.4_Frame_Shift_Ins_p.S169fs|SLC14A1_uc002lbg.4_Intron|SLC14A1_uc010xco.2_Frame_Shift_Ins_p.S64fs|SLC14A1_uc002lbh.4_Frame_Shift_Ins_p.S61fs|SLC14A1_uc002lbj.4_Frame_Shift_Ins_p.S225fs|SLC14A1_uc002lbk.4_Frame_Shift_Ins_p.S169fs|SLC14A1_uc021ujg.1_Frame_Shift_Ins_p.S169fs	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	169						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCATGCTCAGCAAATGGGACCT	0.455													51	77	---	---	---	---					
VAPB	9217	broad.mit.edu	37	20	57009683	57009684	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr20:57009683_57009684insC	uc002xza.3	+	2	578_579	c.237_238insC	c.(235-240)gatcccfs	p.D79fs	VAPB_uc010zzo.2_Intron|VAPB_uc002xzd.2_Intron|VAPB_uc002xzb.3_Intron	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	79	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TCGATTATGATCCCAATGAGAA	0.361													21	58	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	Splice_Site	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	uc002zfn.4	+	1	159	c.134_splice	c.e1+1	p.P45_splice	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													7	19	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42289217	42289217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chr22:42289217delT	uc003bbi.3	+	11	2474	c.2305delT	c.(2305-2307)tttfs	p.F769fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	769					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGGCCAGAAGTTTTTCATGGA	0.582													24	46	---	---	---	---					
AR	367	broad.mit.edu	37	X	66765159	66765161	+	In_Frame_Del	DEL	GCA	GCA	-	rs72181988		TCGA-PJ-A5Z9-01A-11D-A28G-10	TCGA-PJ-A5Z9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0040144d-5bfe-4476-b511-2fa1fed81583	32635493-96c3-4fed-a9f7-85537363c7f0	g.chrX:66765159_66765161delGCA	uc004dwu.2	+	0	1286_1288	c.171_173delGCA	c.(169-174)ctgcag>ctg	p.Q80del	AR_uc011mpd.2_In_Frame_Del_p.Q80del|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_In_Frame_Del_p.Q80del|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_In_Frame_Del_p.Q80del	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	78	Gln-rich.|Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcag	0.665									Androgen Insensitivity Syndrome				10	42	---	---	---	---					
